Global Prenatal & Maternal Diagnostic Market To 2020
Prenatal tests (fetus, embryos and newborns) currently on the market analyze chromosomes, DNA, RNA, genes, and/or gene products to determine whether an abnormality is present that is causative of a specific disease. Since 2011, the launch of noninvasive prenatal tests (NIPTs) is revolutionizing the prenatal screening industry providing detection rates of >99% and false positive rates of 0.1%. These screening results are only indicative of the risk and not confirmative. To confirm positive results of NIPT screening tests, prenatal diagnostic tests such as amniocentesis and chorionic villus sampling (CVS) are performed. Prior to NIPTs, ultrasound and maternal serum tests were routinely used to screen fetusus for genetic abnormalities.
Globally, 50 countries have effective newborn genetic test programs, the implementation of which is in various stages. In the U.S., four million newborns are tested annually, with 3,000 found to have metabolic and genetic diseases. The purpose of newborn screening is to identify affected newborns quickly and provide them with treatment to prevent mental retardation, prolonged illness and death. The newborn genetic screening market is crowded with different technologies, the common being tandem mass spectrometry, pulse oximetry, enzyme-based assays, DNA assays and electrophoresis.
Preimplantation genetic screening and preimplantation genetic diagnosis (PGS/PGD) are genetic tests performed in eight-celled embryos before implantation during in vitro fertilization (IVF) for the detection of genetic abnormalities and sex. These tests can detect and diagnose chromosomal rearrangements, X-linked diseases and help in reducing the incidence of spontaneous abortions, increase implantation rates, prevent trisomic offsprings and avoid the risk of transmitting single gene disorders. However, PGS and PGD results are not 100% accurate and after pregnancy, if required the diagnostic tests such as amniocentesis and CVS are to be performed to confirm the positive results of PGS/PGD. In the U.S. alone, more than 63,000 babies were born through IVF in 2013 and compared to 2012 data; it was an increase of 2,000 births.
The most important development in the field of prenatal screening, is the introduction of NIPTs using cell-free fetal DNA (cffDNA) in 2011. Obstetricians and patients who are deterred by the 10% to 15% false positive rates of ultrasound screening and 5% false positive rates of maternal serum tests are eagerly embracing NIPTs which claim to have only 0.1% of false positive results.
Within just four years, molecular genetics firms have successfully produced eight different types of kits for the detection of genetic abnormalities in the fetus. These products have been gradually marginalizing the maternal serum tests and in another decade, maternal serum tests are expected to become obsolete. If, companies can develop NIPTs with a 100% accuracy rate, maternal serum tests, amniocentesis and CVS will all be completely overshadowed by NIPTs. Despite the growing popularity of NIPTs, maternal serum tests still continue to have some market due to their low price. While the maternal serum tests are available for just $x to $x, NIPTs are priced between $x and $x. However, Sequenom reportedly sold over x tests in 2013 and so pricing does not seem to be a deterrent factor. The introduction of technologies such as digital PCR and next-generation sequencing (NGS) or massively parallel sequencing (MPS) have also enabled accurate estimation of very small differences in chromosome-specific sequences in maternal blood.
The objective of this report is to provide an overview of the various technologies being employed for detecting genetic diseases in embryos, fetuses and newborns. The various chapters describe common pregnancy disorders, numerical chromosome disorders and structural chromosome disorders, single gene disorders inherited by fetuses, newborns and embryos. The global prenatal and maternal diagnostic test market is assessed with respect to:
Emerging trends in associated markets are also analysed in order to give the reader a comprehensive overview of how prenatal and maternal diagnostic testing is affected by the following industries:
Key Questions Answered in this Report
Globally, 50 countries have effective newborn genetic test programs, the implementation of which is in various stages. In the U.S., four million newborns are tested annually, with 3,000 found to have metabolic and genetic diseases. The purpose of newborn screening is to identify affected newborns quickly and provide them with treatment to prevent mental retardation, prolonged illness and death. The newborn genetic screening market is crowded with different technologies, the common being tandem mass spectrometry, pulse oximetry, enzyme-based assays, DNA assays and electrophoresis.
Preimplantation genetic screening and preimplantation genetic diagnosis (PGS/PGD) are genetic tests performed in eight-celled embryos before implantation during in vitro fertilization (IVF) for the detection of genetic abnormalities and sex. These tests can detect and diagnose chromosomal rearrangements, X-linked diseases and help in reducing the incidence of spontaneous abortions, increase implantation rates, prevent trisomic offsprings and avoid the risk of transmitting single gene disorders. However, PGS and PGD results are not 100% accurate and after pregnancy, if required the diagnostic tests such as amniocentesis and CVS are to be performed to confirm the positive results of PGS/PGD. In the U.S. alone, more than 63,000 babies were born through IVF in 2013 and compared to 2012 data; it was an increase of 2,000 births.
The most important development in the field of prenatal screening, is the introduction of NIPTs using cell-free fetal DNA (cffDNA) in 2011. Obstetricians and patients who are deterred by the 10% to 15% false positive rates of ultrasound screening and 5% false positive rates of maternal serum tests are eagerly embracing NIPTs which claim to have only 0.1% of false positive results.
Within just four years, molecular genetics firms have successfully produced eight different types of kits for the detection of genetic abnormalities in the fetus. These products have been gradually marginalizing the maternal serum tests and in another decade, maternal serum tests are expected to become obsolete. If, companies can develop NIPTs with a 100% accuracy rate, maternal serum tests, amniocentesis and CVS will all be completely overshadowed by NIPTs. Despite the growing popularity of NIPTs, maternal serum tests still continue to have some market due to their low price. While the maternal serum tests are available for just $x to $x, NIPTs are priced between $x and $x. However, Sequenom reportedly sold over x tests in 2013 and so pricing does not seem to be a deterrent factor. The introduction of technologies such as digital PCR and next-generation sequencing (NGS) or massively parallel sequencing (MPS) have also enabled accurate estimation of very small differences in chromosome-specific sequences in maternal blood.
The objective of this report is to provide an overview of the various technologies being employed for detecting genetic diseases in embryos, fetuses and newborns. The various chapters describe common pregnancy disorders, numerical chromosome disorders and structural chromosome disorders, single gene disorders inherited by fetuses, newborns and embryos. The global prenatal and maternal diagnostic test market is assessed with respect to:
- Fetal Ultrasound
- Prenatal MRI Screening
- Maternal Serum Screening Tests
- Noninvasive Prenatal Tests (NIPTs) using cffDNA
- NIPTs by Product
- Prenatal Diagnostic Invasive Tests
- Newborn Screening for Genetic Diseases
- Newborn Screening Market by Technology
- Preimplantation Screening/Diagnosis (PGS/PGD)
Emerging trends in associated markets are also analysed in order to give the reader a comprehensive overview of how prenatal and maternal diagnostic testing is affected by the following industries:
- Molecular Diagnostics Market
- Liquid Biopsy Market
- Personalized Medicine Diagnostics Market
- In vitro Diagnostics (IVD) Market
Key Questions Answered in this Report
- What are the major prenatal pregnancy complications?
- What are the major genetic diseases detected in fetuses?
- What are the appropriate technologies for the detection of aneuploidies, microdeletions, duplications, copy number variations and translocations?
- How far is genetic counseling important in educating pregnant women and healthcare professionals?
- What is the impact of recent advances in clinical genomics on genetic counseling?
- What different noninvasive and invasive prenatal screening tests are performed during a pregnancy?
- What are the detection rate, true positive rate and true negative rate for NIPTs?
- Currently, in which countries are the NIPTs available?
- What is the cost of NIPTs region-wise?
- What is the uptake of conventional maternal serum tests, NIPTs and invasive diagnostic tests in the U.S.?
- What is the average cost of maternal serum screening, NIPTs, fetal ultrasound screening and invasive diagnostic tests in the U.S.?
- What are the strategies to be adopted for clinical implementation of NIPTs for all pregnancies?
- What is the “patient directed model” for the integration of NIPTs into healthcare systems?
- How does the detection rate of NIPTs compare with the rates of conventional maternal serum screening tests?
- What are the genetic disorders detectable by different prenatal screening and diagnostic tests?
- What is the reliability of amniocentesis and CVS results?
- Is the future of invasive diagnostic tests uncertain?
- Do the intact fetal cells in maternal blood have use in noninvasive prenatal diagnosis (NIPD)?
- What about the use of trophoblast cells obtained from cervix in NIPD?
- How many genetic conditions are detected during newborn genetic screening in the U.S.?
- What is the status of newborn genetic screening in developed, developing and other countries?
- What are the different preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD)?
- What are the currently available PGS/PGD testing products available in the market?
- What are the currently used advanced technologies in prenatal, newborn and PGD testing?
- What is the global market for fetal ultrasound screening, through 2021?
- Who are the market leaders in fetal ultrasound systems?
- What is the global and regional market for prenatal screening by fetal MRI, through 2021?
- What is the global and regional market for maternal screening tests, through 2021?
- What is the global and regional market for NIPTs using cffDNA, through 2021?
- What is the global and regional market for invasive prenatal diagnostic tests, through 2021?
- What is the global and regional market for newborn screening tests, through 2021?
- What is the global market for newborn screening tests by technology, through 2021?
- What is the global and regional market for pre-implantation genetic diagnosis (PGD), through 2021?
- What is the global market for molecular diagnostics, through 2021?
- What is the global market for liquid biopsy tests, through 2021?
- What is the overall global market for personalized medicine diagnostics, through 2021?
- What is the overall global market for in vitro diagnostics (IVD), through 2021?
- What are the recent acquisition activities in prenatal screening industry?
- What are the important factors that drive the growth of prenatal & newborn genetic testing industry?
- What are the challenges faced by the prenatal screening industry?
- What are the possible future developments in prenatal screening industry?
1. INTRODUCTION
1.1 Executive Summary
1.2 Objectives of this Report
1.3 Key Questions Answered in this Report
2. PRENATAL PREGNANCY COMPLICATIONS: AN OVERVIEW
2.1 Advanced Maternal Age (AMA)
2.1.1 Risk of Down Syndrome with Increased AMA
2.1.2 Risk of Miscarriage with Increased AMA
2.1.3 Risk of Cesarean Section with Increasing AMA
2.1.4 Risk of Gestational Diabetes with AMA
2.1.5 Risk for Pregnancy-Induced Hypertension with AMA
2.1.6 Risk of Placenta Previa with AMA
2.1.7 Delayed First Pregnancy in the U.S.
2.1.7.1 First Birth Rates for 35-39 Aged U.S. Women by Race
2.2 Pre-Existing Maternal Medical Conditions
2.2.1 Pregnancy Outcome in Women with Renal Disease
2.2.2 Pregnancy Outcome in Diabetic Women
2.2.3 Pregnancy Outcome in Women with Pre-Existing Thyroid Disease
2.2.4 Pregnancy Outcome in Obese Women
2.2.5 Pregnancy Outcome in Asthmatic Women
2.2.6 Pregnancy Outcome in Women with Epilepsy
2.2.7 Pregnancy Outcome in Women with Autoimmune Diseases
2.2.8 Pregnancy Outcome in Women with Hemoglobinopathies
2.2.9 Pre-Existing Chronic Diseases among Women of Reproductive Ages in the U.S.
2.2.9.1 Chronic Disease Risk Behaviors and Risk Factors among Women of Reproductive Ages in the U.S.
2.3 Medical Conditions Occurring During Pregnancy
2.3.1 Preeclampsia (Toxemia)
2.3.1.1 Prevalence of Preeclampsia in the U.S.
2.3.2 Gestational Diabetes in the U.S.
2.3.2.1 Prevalence of Gestational Diabetes in the U.S.
2.4 Pregnancy-Related Issues
2.4.1 Premature Labor
2.4.1.1 Common Medical Complications in Premature Babies
2.4.1.2 Global Prevalence of Preterm Labor
2.4.1.3 Prevalence of Preterm Births in the U.S. by Stage
2.4.1.4 Prevalence of Preterm Births in the U.S. by Race/Ethnicity
2.4.1.5 Prevalence of Preterm Births in the U.S. by Plurality of Birth
2.4.1.6 Prevalence of Preterm Births in the U.S. by Maternal Age
2.4.1.7 Multiple Births in the U.S.
2.4.2 Placenta Previa
2.4.3 Breech Presentation
2.4.4 Meconium Stained Liquor
2.4.5 Oligohydramnios and Polyhydramnios
2.5 Fetal Problems
2.5.1 Fetal Growth Restriction
2.5.2 Imperforate Anus
2.5.3 Congenital Heart Disease
3. TYPES OF GENETIC DISEASES IN FETUSES: AN OVERVIEW
3.1 Single Gene Disorders
3.1.1 Autosomal Dominant Genetic Disorders
3.1.1.1 Huntington Disease (HD)
3.1.1.2 Familial Hypercholesterolaemia (FH)
3.1.1.3 Marfan syndrome
3.1.1.4 Myotonic Dystrophy
3.1.2 Autosomal Recessive Genetic Disorders
3.1.2.1 Cystic Fibrosis (CF)
3.1.2.2 Canavan Disease
3.1.2.3 Neutropenia
3.1.2.4 Ellis-van Creveld Syndrome (EVC)
3.1.2.5 Familial Mediterranean fever (FMF)
3.1.2.6 Faconi Anemia (FA)
3.1.2.7 Gaucher Disease
3.1.2.8 Mucopolysaccharidosis (MPSs)
3.1.2.9 Phenylketonuria (PKU)
3.1.2.10 Sickle Cell Disease
3.1.2.11 Beta-Thalassaemia
3.1.2.12 Inheritance Pattern of Autosomal Recessive Genetic Disorders
3.1.2.13 Chances of Inheriting a Single Gene Disorder
3.1.2.14 Common Recessive Disease Traits in Selected Ethnic Groups
3.1.2.15 Comprehensive List of Common Single Gene Disorders
3.1.3 X-Linked Dominant Genetic Disorders
3.1.3.1 Hypophosphotemic Rickets
3.1.3.2 Incontinentia Pigmenti
3.1.3.3 Focal Dermal Hypoplasia
3.1.3.4 Orofaciodigital Syndrome
3.1.3.5 Inheritance of Sex-Linked Dominant Disorders
3.1.4 X-Linked Recessive Disorders
3.1.4.1 Lesch-Nyhan Syndrome
3.1.4.2 Menkes Disease (Kinky hair syndrome)
3.1.4.3 Hemophilia A and B
3.1.4.4 Fabry’s Disease
3.1.4.5 Wiskott-Aldrich syndrome (WAS)
3.1.4.6 Bruton’s Aggamaglobulinemia
3.1.4.7 Color Blindness
3.1.4.8 Complete Androgen Insensitivity Syndrome
3.1.4.9 Inheritance of X-Linked Recessive Traits
3.2 Chromosomal Disorders
3.2.1 47, XXY (Klinefelter Syndrome)
3.2.1.1 Prenatal Diagnosis of Klinefelter Syndrome
3.2.2 47, XYY Syndrome
3.2.2.1 Diagnosis of 47, XYY Syndrome
3.2.3 45, X Syndrome (Turner Syndrome)
3.2.3.1 Prenatal Diagnosis of Turner Syndrome
3.2.4 47, XXX (Triple X Syndrome)
3.2.4.1 Tests for Triple X Syndrome
3.2.5 Trisomy 21 (Down Syndrome)
3.2.5.1 Tests for Down Syndrome
3.2.5.2 Incidence of Down Syndrome by Maternal Age
3.2.5.3 Developmental Delay in Children with Down Syndrome
3.2.6 Trisomy 18 (Edward’s Syndrome)
3.2.6.1 Prenatal Diagnosis of Trisomy
3.2.6.2 Clinical Manifestations of Trisomy
3.2.7 Trisomy 13 (Patau Syndrome)
3.2.7.1 Prenatal Diagnosis of Trisomy
3.2.8 Triploid Syndrome
3.2.8.1 Congenital Anomalies Associated with Triploidy
3.2.8.2 Prenatal Diagnosis of Triploidy
3.2.9 Prevalence of Trisomies in the U.S.
3.2.9.1 Trisomies and Abortions
3.2.10 Maternal Age-Related Frequencies of Aneuploid Fetuses
3.2.11 Clinical Features of Common Chromosomal Aneuploidy
3.2.12 Maternal Age and Chromosomal Aneuploidy
3.2.13 Sensitivity and Specificity of Maternal Serum and Ultrasound Tests for Aneuploids
3.3 Structural Chromosomal Abnormalities
3.3.1 Autosomal Deletions
3.3.1.1 Wolf-Hirschhorn Syndrome (WHS)
3.3.1.2 Cri du chat Syndrome
3.3.1.3 Langer-Giedion Syndrome
3.3.2 Common Autosomal Microdeletion Syndrome
3.3.2.1 Williams Syndrome
3.3.2.2 WAGR Syndrome
3.3.2.3 Prader-Willi Syndrome (PWS)
3.3.2.4 Angelman Syndrome
3.3.2.5 Miller-Dieker Syndrome
3.3.2.6 Smith-Magenis Syndrome (SMS)
3.3.2.7 Alagille Syndrome (ALGS)
3.3.2.8 CATCH 22 Syndrome
3.3.2.9 DiGeorge Syndrome
3.3.3 Autosomal Duplication Syndromes
3.3.3.1 Beckwith-Wiedemann Syndrome (BWS)
3.3.3.2 Charcot-Marie-Tooth Disease Type 1A (CMT1A)
3.3.3.3 Cat-Eye Syndrome
3.3.4 Appropriate Technologies for the Detection of Microdeletions, Duplications and Copy Number Variants
4. GENETIC COUNSELLING: AN OVERVIEW
4.1 Impact of Recent Advances in Clinical Genomics on Genetic Counselling
4.2 Genetic Counsellors in DTC GT Industry
4.2.1 Types of Genetic Counselling Offered by DTC GT Companies
4.2.2 Roles of Genetic Counsellors in DCT GT Industry
5. PRENATAL SCREENING FOR GENETIC DISEASES: AN OVERVIEW
5.1 Routine Prenatal Screening Tests
5.2 Less-Routine Prenatal Screening Tests
5.3 Beta Human Chorionic Gonadotropin (β-hCG) Screening Test
5.3.1 hCG Kits and Manufacturers
5.4 First Trimester Pregnancy-Associated Plasma Protein-A (PAPP-A) Screening Test
5.5 Maternal Serum Alpha-Fetoprotein (MSAFP) Screening Test
5.6 Second Trimester Serum β-hCG Screening Test
5.7 Second Trimester Unconjugated Estriol (uE3) Screening Test
5.8 Second Trimester Inhibin-A Screening Test
5.9 Second Trimester Hexosaminidase Test
5.10 Second Trimester Triple-Screen Quad Screen Tests
5.11 Second Trimester Screening of Cell-Free Fetal DNA (cffDNA)
5.11.1 Sensitivity and Specificity of NIPTs
5.11.2 Diagnostic Applications of cffDNA
5.11.3 Time of Availability of cffDNA in Maternal Blood
5.11.4 The Cost of NIPTs
5.11.5 Cost of NIPTs by Product
5.11.6 History of Aneuploidy Testing from 1970s to 2011
5.11.7 NIPT Methods of Detecting Aneuploidy
5.11.7.1 Shotgun Method
5.11.7.2 Targeted Massively Parallel Sequencing (t-MPS)
5.11.7.3 Single Nucleotide Polymorphisms (SNPs)
5.11.8 Comparison of Amniocentesis and NIPT
5.11.9 Advantages of NIPTs
5.11.10 Disadvantages of NIPTs
5.11.11 Comparison of Performance Criteria for Commonly used Prenatal Tests
5.11.12 Comparison of NIPT Detection Rates with Traditional Tests
5.11.13 False Positive Rates of NIPTs Compared with Those of Traditional Tests
5.11.14 Fetal Genetic Disorders Detected by NIPTs and other Screening Tests
5.12 First Trimester Ultrasound Screening Test
5.12.1 Nuchal Translucency (NT) Screening Test
5.13 Magnetic Resonance Imaging (MRI) in Prenatal Screening
5.14 Prenatal Diagnosis of Genetic Disorders
5.14.1 Amniocentesis (AC)
5.14.1.1 Reliability of Amniocentesis
5.14.2 Chorionic Villus Sampling (CVS)
5.14.2.1 Reliability of CVS Test
5.14.3 Cordocentesis or Percutaneous Umbilical Blood Sampling
5.15 Advantages and Disadvantages of Prenatal Diagnostic Tests
5.16 Future of Invasive Prenatal Diagnostic Tests
5.16.1 Indispensability of Invasive Diagnostic Tests
5.17 Intact Circulating Fetal Cells for Noninvasive Prenatal Tests
5.17.1 Scheme for Isolating Intact Fetal Cells from Maternal Blood
5.18 Trophoblast Retrieval and Isolation from Cervix (TRIC)
6. NEWBORN SCREENING
6.1 Status of Newborn Screening in Developed and Developing Countries
6.2 Status of Newborn Screening in Middle East and North Africa (MENA)
6.3 Screening Tests Recommended for Newborns in the U.S.
6.4 Most Common Newborn Genetic Disorders
6.4.1 Phenylketonuria (PKU)
6.4.1.1 Screening Tests Used for Diagnosis of PKU
6.4.2 Congenital Hypothyroidism (CHT)
6.4.2.1 Inheritance of CHT
6.4.2.2 Signs and Symptoms of CHC
6.4.2.3 Diagnosis of CHT
6.4.3 Congenital Adrenal Hyperplasia
6.4.3.1 Inheritance of Congenital Adrenal Hyperplasia
6.4.3.2 Symptoms of Congenital Adrenal Hyperplasia
6.4.3.3 Diagnosis of Congenital Adrenal Hyperplasia
6.4.4 Galactosemia
6.4.4.1 Signs and Symptoms of Galactosemia
6.4.4.2 Diagnosis of Galactosemia
6.4.5 Sickle Cell Disease (SCD)
6.4.5.1 Symptoms of SCD
6.4.5.2 Diagnosis of SCD
6.4.6 Biotidinase Deficiency
6.4.6.1 Inheritance of Biotidinase Deficiency
6.4.6.2 Signs and Symptoms of Biotidinase Deficiency
6.4.6.3 Diagnosis of Biotidinase Deficiency
6.4.7 Homocystinuria
6.4.7.1 Signs and Symptoms of Homocystinuria
6.4.7.2 Diagnosis of Homocystinuria
6.4.8 Maple Syrup Urine Disease (MSUD)
6.4.8.1 Inheritance of MSUD
6.4.8.2 Diagnosis of MSUD
7. PREIMPLANTATION GENETIC SCREENING & GENETIC DIAGNOSIS (PGS/PGD)
7.1 PGS/PGD Technologies
7.1.1 Fluorescent in situ Hybridization (FISH)
7.1.2 Array Comparative Genome Hybridization (aCGH)
7.1.3 Single Nucleotide Polymorphism (SNP) Microarray
7.1.4 Oligonucleotide Genome Sequencing (OGS)
7.1.5 Express Genome Sequencing (EGS)
7.1.6 Next Generation Sequencing (NGS)
7.2 Strengths and Weaknesses of Currently Available PGS/PGD Technologies
7.3 Genetic Diseases Detected During PGD
7.4 PGS/PGD Testing Products in the Market
7.5 Cost of in vitro Fertilization and Related Procedures
8. PREGNANCY, PRENATAL, NEWBORN AND PGD-RELATED TECHNOLOGIES: AN OVERVIEW
8.1 Beta Human Chorionic Gonadotopin (β-hCG) Test
8.1.1 Setting up the Test Strip
8.1.2 Procedure of the Test
8.1.3 Interpretation of β-hCG Test Result
8.2 Pregnancy Associated Plasma Protein-A (PAPP-A) Test
8.2.1 Principle of PAPP-A Test
8.3 Maternal Serum Alpha Fetoprotein (MSAFP) Test
8.3.1 Principle of MSAFP Test
8.4 Unconjugated Estriol (uE3) Test
8.4.1 Principle of uE3 Test
8.5 Inhibin A Test
8.5.1 Principle of Inhibin A Test
8.6 Fetal Karyotyping
8.7 Extended Banding Chromosome Studies
8.8 Innovation in Invasive Prenatal Diagnosis
8.8.1 Microarray: An Alternative for Karyotyping
8.8.2 Rapid Aneuploid Detection by Quantitative Fluorescent PCR (QF-PCR)
8.8.2.1 Principles of QF-PCR
8.8.3 Fluorescence in situ Hybridization (FISH)
8.8.3.1 The Format of Fish Test Result
8.8.3.2 Commonly Used FISH-Based Tests
8.8.3.3 Microdeletions/Microduplications Detectable by FISH
8.8.3.4 Types of FISH Probes and Their Functions
8.8.4 Microarray-Based Comparative Genomic Hybridization (array-CGH)
8.9 Advances in Prenatal Screening: The Power to Know Sooner
8.9.1 NIPTs: An Overview of Tests and Technologies
8.9.1.1 Harmony Test
8.9.1.2 InformaSeq
8.9.1.3 Panorama Test
8.9.1.4 Prena Test
8.9.1.5 NIFTY Test
8.9.1.6 IONA Test
8.9.1.7 Verifi Test
8.9.1.8 MaterniT GENOME Test
8.9.1.9 MaterniT21 PLUS Test
8.9.1.10 HeridiT UNIVERSAL Carrier Screen
8.9.2 Comparison of MaterniT21 PLUS, Verifi, Harmony and Panorama Tests
8.9.3 U.S. Patents for NIPTs by Company
8.9.3.1 Selected Issued Patents of NIPTs
8.9.3.2 Assignees of Major U.S. Patents and their Current Licensees
8.9.4 Global Availability of NIPTs
8.9.5 Cost Effectiveness of NIPTs
8.9.6 Clinical Implementation Strategies to be adopted for NIPTs
8.9.7 Integration of NIPT into Healthcare System: Patient-Directed Model
8.10 Tandem Mass Spectrometry (MS/MS) in Newborn Screening
8.11 Fetal Ultrasound in Prenatal Screening
8.11.1 Types of Fetal Ultrasound Exams
8.11.2 Best Obstetric and Gynecological Ultrasound Systems in the Market
8.11.3 Best Premium Fetal Ultrasound Machines
8.11.3.1 Philips Epiq 7
8.11.3.2 GE Voluson E8
8.11.3.3 GE Voluson E10
8.11.3.4 Samsung UGEO WS80A
8.11.4 High-End Systems
8.11.4.1 Philips Epiq 5
8.11.4.2 Philips Affinity 70
8.11.4.3 GE Voluson E6
8.11.4.4 GE Voluson S8
8.11.5 Midrange Systems
8.11.5.1 Philips Affinity 50
8.11.5.2 GE Voluson S6
8.11.5.3 Samsung AccuVix A30
8.11.5.4 Philips Clear Vue 650
8.11.6 Economy Systems
8.11.6.1 Philips Clear Vue 550
8.11.6.2 GE Logiq P5
8.11.6.3 Samsung H60
8.11.6.4 Alpinion Ecube 7
8.11.7 Portable Systems
8.11.7.1 GE Voluson 1
8.11.7.2 Samsung UGEO HM70A
8.12 Therapeutic Genome Editing: A Breakthrough Technology
8.12.1 Genome Editing Technologies
8.12.1.1 Growing Popularity of CRISPR Kits
8.12.2 Therapeutic Applications of Genome Editing
8.12.3 The First Genetically Modified Human Embryos
9. PRENATAL SCREENING AND DIAGNOSTICS: MARKET OVERVIEW
9.1 Global Market for Fetal Ultrasound
9.1.1 Market Leaders in Fetal Ultrasound
9.2 Global Market for Prenatal MRI Screening
9.3 Global Market for Maternal Serum Screening Tests
9.4 Global Market for Noninvasive Prenatal Tests (NIPTs) using cffDNA
9.4.1 Global Market for NIPTs by Product
9.5 Global Market for Prenatal Diagnostic Invasive Tests
9.6 Global Market for Newborn Screening for Genetic Diseases
9.6.1 Newborn Screening Market by Technology
9.7 Global Market for Preimplantation Screening/Diagnosis (PGS/PGD)
10. OTHER GENETIC TESTING-RELATED MARKETS
10.1 Emerging Trends in Molecular Diagnostics Market
10.2 Emerging Trends in Liquid Biopsy Market
10.3 Emerging Trends in Personalized Medicine Diagnostics Market
10.4 Emerging Trends in in vitro Diagnostics (IVD) Market
11. MARKET SWOT AND STRATEGY ANALYSIS
11.1 Acquisition Activities in Prenatal Screening Industry
11.1.1 Acquisition of BlueGenome by Illumina
11.1.2 Illumina’s Acquisition of Verinata
11.1.3 Eurofin’s Joint Venture with Emory Genetics Laboratory
11.1.4 Roche’s Acquisition of Ariosa Diagnostics
11.1.5 Cooper Surgical’s Acquisition of Reprogenetics
11.2 Market Drivers
11.3 Market Restraints
11.4 Future of Prenatal Screening
11.5 Legislation Mandating Newborn Screening by Geography
11.5.1 Newborn Screening Programs in Americas
11.5.2 Newborn Screening Programs in Asia/Pacific
11.5.3 Newborn Screening Programs in Europe
11.5.4 Newborn Screening Programs in Middle East and Northern Africa
11.6 Ethical Voices against Problamatic Applications of NIPT and NIPD
11.7 Clinical Implemention of NIPTs
11.7.1 Implementation of NIPTs in Developed Countries
11.7.3 Implementation of NIPTs in Developing and Under-Developed Countries
11.8 Adoption Rates for Different Prenatal Tests in the U.S.
12. COMPANY PROFILES
12.1 23andMe Inc.
12.1.1 23andMe’s Agreement with Pfizer
12.1.2 23andMe’s Agreement with Genentech
12.1.3 FDA’s Approval for 23andMe’s Screening Test for Bloom Syndrome
12.2 Abbott Laboratories
12.2.1 ARCHITECT AFP Assay
12.3 Abbott Molecular Inc.
12.3.1 AneuVysion
12.3.2 Cystic Fibrosis Genotyping Assay
12.4 Abcam plc
12.4.1 hCG Human ELISA Kit
12.5 AB Sciex LLC
12.6 Adaltis S.r.l
12.6.1 CLIAgen Free Beta-hCG Kit
12.7 Adaptive Biotechnologies Corp.
12.7.1 ImmunoSEQ Platform
12.7.2 ClonoSEQ
12.7.3 Pipeline
12.7.3.1 Quantifying Tumor Infiltration Lymphocytes in Solid Tumors
12.7.3.2 Measuring Immune Reconstitution Post Transplant
12.7.3.3 Diagnosing Cutaneous T-Cell Lymphoma (CTCL)
12.7.3.4 Therapeutics
12.8 Affymetrix Inc.
12.8.1 Microarray Solutions
12.8.2 Affymetrix’s Collaborating Partners
12.8.3 Affymetrix’s R&D Investment
12.9 Agena Biosciences Inc.
12.9.1 MassARRAY System
12.9.2 Acquisition of Sequenom’s Bioscience Business by Agena Biosciences
12.10 Agilent Technologies Inc.
12.10.1 SureScan Microarray Scanner
12.10.2 OneSeq
12.11 Ambry Genetics Corp.
12.11.1 Clinical Diagnostic Tests
12.12 Analogic Corp.
12.12.1 Flex Focus 500
12.12.1 SonixTouchQ+
12.12.3 SonixSP Q+
12.13 Ariosa Diagnostics Inc.
12.13.1 Harmony Test
12.13.2 Granting of Licenses to Harmony Test
12.14 Ansh Labs
12.14.1 picoPAPP-A ELISA Kit
12.14.2 Inhibin A ELISA Kit
12.15 Appistry Inc.
12.15.1 GenomePilot
11.15.2 Ayrris for NGS Analysis
12.15.3 Variant Annotation and Analysis Suite
12.15.4 CloudDx Translational
12.15.5 CloudDx Clinical
12.15.6 Appistry’s Partnership with LifeMap Sciences
12.16 ARUP Laboratories
12.16.1 Prenatal Screening and Diagnosis
12.16.2 Next-Generation Sequencing (NGS)
12.16.3 Noninvasive Prenatal Test for Aneuploids
12.17 AssureRx Health Inc.
12.17.1 GeneSight Psychotropic
12.17.2 GeneSight Analgesic
12.17.3 GeneSight ADHD
12.17.4 GeneSight MTHFR
12.18 Asuragen Inc.
12.18.1 AmplideX FMR1 PCR
12.18.2 AmplideX FMR1 mPCR
12.18.3 AmplideX Controls
12.18.4 Quantidex Pan Cancer Kit
12.18.5 Quantidex BCR/ABL1 Quant Kit
12.18.6 Quantidex DNA Assay
12.18.7 Signature Technology
12.18.8 Signature KRAS Mutations
12.18.9 Signature BRAF Mutations
12.18.10 Signature LTx v2.
12.18.11 Signature NPM1 Mutations
12.19 Athena Diagnostics Inc.
12.20 AutoGenomics Inc.
12.20.1 INFINITI System
12.21 Base4 Innovation Ltd.
12.21.1 Microdroplet Sequencing
12.22 Beckman Coulter Inc.
12.22.1 SPRIworks System I for Illumina Genome Analyzer
12.22.2 SPRIworks HT for Illumina NGS Platform
12.22.3 SPRIselect Reagent Kit
12.22.4 Automated Sample Preparation
12.22.5 Genomic Services
12.22.6 Access Total Beta-hCG Reagent
12.22.7 Access Inhibin A Assay
12.23 Berry Genomics Co., Ltd.
12.23.1 Bambni Test
12.23.2 Berry’s Partnership with Illumina
12.24 Bina Technologies Inc.
12.24.1 Bina RAVE
12.24.2 Bina AAiM
12.24.3 Bina’s Collaboration with AsraZeneca
12.25 Bio-Rad (Israel) Laboratories Inc.
12.26 BGI
12.27 Blueprint Genetics Oy
12.27.1 Services
12.28 Boreal Genomics Inc.
12.28.1 OnTarget Mutation Detection System
12.28.2 Aurora Platform
12.29 Cambridge Epigenetix Ltd.
12.29.1 TrueMethyl Seq Kit
12.29.2 TrueMethyl Array
12.30 Caris Lifesciences
12.30.1 ADAPT Biotargeting System
12.30.2 Caris Molecular Intelligence
12.30.3 Collaboration between Caris Lifesciences and Syapse
12.31 CeGaT GmbH
12.31.1 NGS Service
12.31.2 ADME Research Panel
12.31.3 Forschungsexom
12.32 Centogene AG
12.33 Chromsystems Instruments & Chemicals GmbH
12.34 Chronix Biomedical Inc.
12.34.1 Technology
12.35 Claritas Genomics Inc.
12.36 CLC bio A/S
12.36.1 Products
12.37 Combimatrix Corp.
12.37.1 CombiSNP Array for Prenatal Diagnosis
12.37.2 CombiPGS
12.38 Contec Medical Systems Co., Ltd.
12.38.1 CMS600P B-Ultrasound Diagnostic System
12.38.2 CMS600B3 B-Ultrasound Diagnostic System
12.39 Coriell Life Sciences Inc.
12.39.1 GeneDose
12.40 Correlagen Diagnostics Inc.
12.41 Counsyl Inc.
12.41.1 Family Prep Screen
12.41.2 Informed Pregnancy Screen
12.41.3 Inherited Cancer Screen
12.42 Courtagen Life Sciences Inc.
12.43 Creative Diagnostics
12.43.1 Alpha-Fetoprotein, AFP ELISA Kit
12.43.2 hCG ELISA Kit
12.43.3 Human Free Estriol ELISA Kit
12.44 Cynvenio Biosystems Inc.
12.44.1 LiquidBiopsy
12.44.2 ClearID
12.44.3 Thermo Fisher’s Distribution Agreement with Crynvenio
12.44.4 Cynvenio’s Collaboration with the University of Southern Denmark
12.45 Diagnostic Automation/Cortez Diagnostics Inc.
12.46 Demeditec Diagnostics GmbH
12.46.1 Estriol, Free/Uncojugated ELISA
12.47 DRG International Inc.
12.47.1 DRG PAPP-A ELISA
12.48 DNA Electronics Ltd.
12.48.1 Genalysis
12.49 DNA Link Inc.
12.49.1 Services
12.49.2 Partnership between Affymetrix and DNA Link Inc.
12.49.3 DNAGPS
12.49.4 AccuID
12.50 DNAnexus Inc.
12.50.1 Adoption of DNAnexus’ Cloud Genomics Platform by Natera
12.51 Eagle Biosciences Inc.
12.51.1 Alport Syndrome Kit
12.51.2 Free Beta-hCG ELISA
12.52 Eagle Genomics Ltd.
12.52.1 EagleCore
12.52.2 EagleNsembl
12.53 Enzymatics Inc.
12.53.1 Reagents
12.53.2 SPARK DNA Sample Preparation Kit
12.54 Esoate SpA
12.54.1 MyLabGamma
12.54.2 MyLab GOLD Platform
12.54.3 MyLab 50
12.54.4 MyLab 40
12.54.5 MyLab 25Gold
12.55 Eurofins MWG Operon Inc.
12.55.1 Products and Services
12.56 Exiqon A/S
12.56.1 Products and Services
12.57 Fakuda Denshi Co., Ltd.
12.57.1 UF-400AX
12.57.2 UF-550XTD
12.57.3 UF-760AG
12.57.4 UF-870AG
12.58 GATC Biotech AG
12.58.1 Sanger Sequencing
12.59 GE Healthcare Ltd.
12.59.1 VScan
12.59.2 VScan with Dual Probe
12.59.3 Logiq P5
12.59.4 Logiq P6
12.59.5 GE Venue 50
12.59.6 GE Venue 40
12.59.7 Logiq S8
12.59.8 Logiq E9
12.60 GenapSys Inc.
12.60.1 GENIUS
12.61 Gene by Gene Ltd.
12.62 Genection Inc.
12.63 GeneDx Inc.
12.63.1 Cytogenetics and Biochemical Tests
12.63.2 Deletion/Duplication Analysis
12.63.3 Carrier Mutation-Specific Testing
12.64 GenePeeks Inc.
12.64.1 Matchright Technology
12.65 Genesis Genetics
12.65.1 GeniSeq24
12.65.2 UltraPGD
12.65.3 ArrayCGH
12.66 Genetadi Biotech S.L.
12.66.1 AMNIOCHIP
12.66.2 FERTICHIP
12.66.3 PRENATAL GENE
12.67 Genoma Group Srl
12.68 Genomed AG
12.68.1 Aneufast
12.69 GenPath Diagnostics
12.69.1 InheriGen, InheriGen Plus and InheriGen Tx
12.69.2 Prenatal Tests
12.70 Genway Biotech Inc.
12.71 Good Start Genetics Inc.
12.71.1 EmbryVu
12.72 Hitachi Medical Systems America Inc.
12.72.1 Arietta 70
12.72.2 ProSound Alpha 7
12.72.3 Noblus
12.72.4 ProSound F37
12.73 Hologic Inc.
12.73.1 InPlex CF Molecular Test
12.73.2 Rapid fFN Test
12.74 Illumina Inc.
12.74.1 The Verifi Prenatal Test
12.75 INEX Innovations Exchange Pte Ltd.
12.75.1 iGene
12.75.2 FlashFISH
12.75.3 INEX’s Collaborative Agreement with BGI
12.76 Invitae Corp.
12.77 Laboratory Corporation of America Inc.
12.77.1 Services
12.78 LifeCodexx AG
12.78.1 Prena Test
12.79 Monobind Inc.
12.79.1 Fertility VAST Panel: HCG, FSH, LH, SPRL
12.79.2 PAPP-A Test
12.80 Multiplicom NV
12.80.1 Clarigo
12.81 Myriad Genetics
12.82 Natera Inc.
12.82.1 Panorama Prenatal Screen
12.82.1.1 Accuracy of Panorama Test
12.82.1.2 Minimal False Negatives in Panorama
12.82.2 Horizon Carrier Screening
12.82.3 Spectrum Preimplantation Test
12.82.4 Natera’s 24-chromosome PGS
12.82.5 Anora Miscarriage Test
12.82.6 Prenatal Paternity Test
12.82.7 Agreement between Natera and LifeLabs
12.83 Natus Medical Inc.
12.83.1 ABaer
12.83.2 Algo 5
12.83.3 Algo 3i
12.83.4 AuDX
12.83.5 Echo-Screen III
12.84 NewGene Ltd.
12.84.1 Hereditary Disorders
12.84.2 Alport Syndrome
12.84.3 Aortopathy Panel
12.84.4 RASopathy Gene Panel
12.84.5 Familial Hypercholesterolaemia
12.85 NIPD Genetics Ltd.
12.85.1 VERACITY Test (NIPT)
12.86 Oxford Gene Technology (OGT)
12.86.1 SureSeq NGS Library Preparation Kit
12.86.2 CytoSure Embryo Screen Array
12.86.3 Cytocell FISH Probes
12.86.4 CytoSure Embryo Screen Array
12.86.5 CytoSure Aneuploidy Array
12.86.6 CytoSure Chromosome X Arrays
12.87 Parabase Genomics Inc.
12.87.1 NewbornDx Test
12.88 Pathway Genomics Corp.
12.88.1 Carrier Screening
12.89 PerkinElmer Life and Analytical Sciences Inc.
12.89.1 DELFIA Xpress PIGF Assay
12.89.2 DELFIA Xpress PAPP-A Kit
12.89.3 AutoDELFIA PAPP-A Kit
12.89.4 StepOne Newborn Screens
12.90 Premaitha Health PLC
12.90.1 IONA Test
12.90.2 Premaitha’s Investment Agreement with Thermo Fisher
12.91 Progenity Inc.
12.91.1 nxtPanel Test
12.91.2 Verifi Test
12.91.3 Acquisition of Carmenta Bioscience by Progenity
12.92 Qiagen N.V.
12.92.1 Next-Generation Sequencing (NGS)
12.92.2 Target Enrichment Solutions
12.92.3 Library Construction
12.93 Quest Diagnostics Inc.
12.93.1 QNatal Advanced
12.93.2 Inhibin A
12.94 Ravgen Inc.
12.94.1 Prenatal Downs Syndrome Testing
12.94.2 Single Gene Disorder Testing
12.95 Recombine Inc.
12.95.1 CarrierMap
12.96 Reproductive Genetics Institute Inc.
12.97 Reprogenetics Laboratories
12.97.1 Array CGH (aCGH)
12.97.2 Single Gene Disorder Testing
12.97.3 WaferGen Biosystems’ Supply Agreement with Reprogenetics
12.98 Sebia Inc.
12.99 Sequenom Inc.
12.99.1 MaterniT GENOME Test
12.99.1.1 Sensitivity and Specificity of MaterniT GENOME Test
12.99.2 MaterniT21 PLUS
12.99.2.1 Sensitivity and Specificity of MaterniT21 PLUS
12.99.3 HerediT UNIVERSAL Carrier Screen
12.99.4 VisibiliT Prenatal Test
12.99.5 HerediT Cystic Fibrosis Carrier Screen
12.99.5.1 Clinical Data for HerediT
12.99.6 SensiGene Fetal RHD Genotyping
12.99.7 NextView Prenatal Diagnostic Tests
12.100 SeraCare Life Sciences Inc.
12.100.1 Seraseq Trisomy 21 Aneuploidy Reference Material
12.101 Siemens Healthcare
12.101.1 Acuson S2000
12.101.2 Acuson X700
11.101.3 Acuson X600
12.101.4 Acuson X300 PE
12.101.5 Acuson X150
12.101.6 Acuson Antares
12.101.7 Acuson P300
12.102 Sophia Genetics SA
12.102.1 Clinical Genomic Modules
12.103 SpOtOn Clinical Diagnostics Ltd.
12.103.1 Newborn Screening
12.103.2 Ante-Natal Testing
12.104 Stra Biotech GmbH
12.105 Sygnis AG
12.105.1 TruePrime Single Cell WGA Kit
12.105.2 TruePrime WGA Kit
12.105.3 TruePrime RCA Kit
12.105.4 SunScript Reverse Transcriptase RNaseH+ and RNaseH- Kits
12.105.5 SensiPhi/QualiPhi
12.106 SynapDx Corporation
12.106.1 ASD Diagnosis
12.107.1 Thermo Fisher’s Brands
12.108 Transgenomic Inc.
12.108.1 Technology Suite
12.108.2 MX-ICP Technology
12.108.3 ICEme Kit
12.108.4 Other Products
12.109 Trivitron Healthcare Private Ltd.
12.110 Trovagene Inc.
12.110.1 PCM BRAF V600E Mutation Detection Test
12.110.2 PCM KRAS Mutation Detection Test
12.110.3 PCR EGFR Mutation Detection Test
12.110.4 HPV HR Detection Test
12.111 Tute Genomics Inc.
12.111.1 Tute Platform
12.112 Warp Drive Bio LLC
12.112.1 Wrap’s New Approach
12.112.2 Chemomemes
12.112.3 Genomic Search Engine
12.113 ZS Genetics Inc.
12.113.1 3G Sequencing
12.114 Zymo Research Corporation
12.114.1 DNA Methylation Products
12.114.1.1 Bisulfite Conversion
12.114.1.2 Methylated DNA Standards
12.114.1.3 DNA Methyltransferases
12.114.1.4 5-mC ELISA
12.114.1.5 5-mC Antibodies and Immunoprecipitation
11.114.1.6 Region-Specific DNA Methylation Analysis
12.114.1.7 Global 5-mC Quantification
12.114.1.8 Genome-wide 5-mC Analysis
12.114.2 DNA Purification Products
12.114.2.1 DNA Clean-up
12.114.2.2 Plasmid DNA Purification
12.114.2.3 Genomic DNA
12.114.2.4 Microbial and Environmental DNA Isolation
12.114.2.5 DNA/RNA Co-Purification
12.114.2.6 Sample Collection and Stabilization
12.114.2.7 DNA Ladders
12.114.2.8 Enzymes
12.114.2.9 High-Throughput/Automated Isolation
12.114.2.10 DNA Analysis Kits
12.114.3 Other Products
APPENDIX
Appendix 1: Representative Companies in Prenatal and Maternal Diagnostics and their Products
Appendix 2: Sources for Tables and Graphs
1.1 Executive Summary
1.2 Objectives of this Report
1.3 Key Questions Answered in this Report
2. PRENATAL PREGNANCY COMPLICATIONS: AN OVERVIEW
2.1 Advanced Maternal Age (AMA)
2.1.1 Risk of Down Syndrome with Increased AMA
2.1.2 Risk of Miscarriage with Increased AMA
2.1.3 Risk of Cesarean Section with Increasing AMA
2.1.4 Risk of Gestational Diabetes with AMA
2.1.5 Risk for Pregnancy-Induced Hypertension with AMA
2.1.6 Risk of Placenta Previa with AMA
2.1.7 Delayed First Pregnancy in the U.S.
2.1.7.1 First Birth Rates for 35-39 Aged U.S. Women by Race
2.2 Pre-Existing Maternal Medical Conditions
2.2.1 Pregnancy Outcome in Women with Renal Disease
2.2.2 Pregnancy Outcome in Diabetic Women
2.2.3 Pregnancy Outcome in Women with Pre-Existing Thyroid Disease
2.2.4 Pregnancy Outcome in Obese Women
2.2.5 Pregnancy Outcome in Asthmatic Women
2.2.6 Pregnancy Outcome in Women with Epilepsy
2.2.7 Pregnancy Outcome in Women with Autoimmune Diseases
2.2.8 Pregnancy Outcome in Women with Hemoglobinopathies
2.2.9 Pre-Existing Chronic Diseases among Women of Reproductive Ages in the U.S.
2.2.9.1 Chronic Disease Risk Behaviors and Risk Factors among Women of Reproductive Ages in the U.S.
2.3 Medical Conditions Occurring During Pregnancy
2.3.1 Preeclampsia (Toxemia)
2.3.1.1 Prevalence of Preeclampsia in the U.S.
2.3.2 Gestational Diabetes in the U.S.
2.3.2.1 Prevalence of Gestational Diabetes in the U.S.
2.4 Pregnancy-Related Issues
2.4.1 Premature Labor
2.4.1.1 Common Medical Complications in Premature Babies
2.4.1.2 Global Prevalence of Preterm Labor
2.4.1.3 Prevalence of Preterm Births in the U.S. by Stage
2.4.1.4 Prevalence of Preterm Births in the U.S. by Race/Ethnicity
2.4.1.5 Prevalence of Preterm Births in the U.S. by Plurality of Birth
2.4.1.6 Prevalence of Preterm Births in the U.S. by Maternal Age
2.4.1.7 Multiple Births in the U.S.
2.4.2 Placenta Previa
2.4.3 Breech Presentation
2.4.4 Meconium Stained Liquor
2.4.5 Oligohydramnios and Polyhydramnios
2.5 Fetal Problems
2.5.1 Fetal Growth Restriction
2.5.2 Imperforate Anus
2.5.3 Congenital Heart Disease
3. TYPES OF GENETIC DISEASES IN FETUSES: AN OVERVIEW
3.1 Single Gene Disorders
3.1.1 Autosomal Dominant Genetic Disorders
3.1.1.1 Huntington Disease (HD)
3.1.1.2 Familial Hypercholesterolaemia (FH)
3.1.1.3 Marfan syndrome
3.1.1.4 Myotonic Dystrophy
3.1.2 Autosomal Recessive Genetic Disorders
3.1.2.1 Cystic Fibrosis (CF)
3.1.2.2 Canavan Disease
3.1.2.3 Neutropenia
3.1.2.4 Ellis-van Creveld Syndrome (EVC)
3.1.2.5 Familial Mediterranean fever (FMF)
3.1.2.6 Faconi Anemia (FA)
3.1.2.7 Gaucher Disease
3.1.2.8 Mucopolysaccharidosis (MPSs)
3.1.2.9 Phenylketonuria (PKU)
3.1.2.10 Sickle Cell Disease
3.1.2.11 Beta-Thalassaemia
3.1.2.12 Inheritance Pattern of Autosomal Recessive Genetic Disorders
3.1.2.13 Chances of Inheriting a Single Gene Disorder
3.1.2.14 Common Recessive Disease Traits in Selected Ethnic Groups
3.1.2.15 Comprehensive List of Common Single Gene Disorders
3.1.3 X-Linked Dominant Genetic Disorders
3.1.3.1 Hypophosphotemic Rickets
3.1.3.2 Incontinentia Pigmenti
3.1.3.3 Focal Dermal Hypoplasia
3.1.3.4 Orofaciodigital Syndrome
3.1.3.5 Inheritance of Sex-Linked Dominant Disorders
3.1.4 X-Linked Recessive Disorders
3.1.4.1 Lesch-Nyhan Syndrome
3.1.4.2 Menkes Disease (Kinky hair syndrome)
3.1.4.3 Hemophilia A and B
3.1.4.4 Fabry’s Disease
3.1.4.5 Wiskott-Aldrich syndrome (WAS)
3.1.4.6 Bruton’s Aggamaglobulinemia
3.1.4.7 Color Blindness
3.1.4.8 Complete Androgen Insensitivity Syndrome
3.1.4.9 Inheritance of X-Linked Recessive Traits
3.2 Chromosomal Disorders
3.2.1 47, XXY (Klinefelter Syndrome)
3.2.1.1 Prenatal Diagnosis of Klinefelter Syndrome
3.2.2 47, XYY Syndrome
3.2.2.1 Diagnosis of 47, XYY Syndrome
3.2.3 45, X Syndrome (Turner Syndrome)
3.2.3.1 Prenatal Diagnosis of Turner Syndrome
3.2.4 47, XXX (Triple X Syndrome)
3.2.4.1 Tests for Triple X Syndrome
3.2.5 Trisomy 21 (Down Syndrome)
3.2.5.1 Tests for Down Syndrome
3.2.5.2 Incidence of Down Syndrome by Maternal Age
3.2.5.3 Developmental Delay in Children with Down Syndrome
3.2.6 Trisomy 18 (Edward’s Syndrome)
3.2.6.1 Prenatal Diagnosis of Trisomy
3.2.6.2 Clinical Manifestations of Trisomy
3.2.7 Trisomy 13 (Patau Syndrome)
3.2.7.1 Prenatal Diagnosis of Trisomy
3.2.8 Triploid Syndrome
3.2.8.1 Congenital Anomalies Associated with Triploidy
3.2.8.2 Prenatal Diagnosis of Triploidy
3.2.9 Prevalence of Trisomies in the U.S.
3.2.9.1 Trisomies and Abortions
3.2.10 Maternal Age-Related Frequencies of Aneuploid Fetuses
3.2.11 Clinical Features of Common Chromosomal Aneuploidy
3.2.12 Maternal Age and Chromosomal Aneuploidy
3.2.13 Sensitivity and Specificity of Maternal Serum and Ultrasound Tests for Aneuploids
3.3 Structural Chromosomal Abnormalities
3.3.1 Autosomal Deletions
3.3.1.1 Wolf-Hirschhorn Syndrome (WHS)
3.3.1.2 Cri du chat Syndrome
3.3.1.3 Langer-Giedion Syndrome
3.3.2 Common Autosomal Microdeletion Syndrome
3.3.2.1 Williams Syndrome
3.3.2.2 WAGR Syndrome
3.3.2.3 Prader-Willi Syndrome (PWS)
3.3.2.4 Angelman Syndrome
3.3.2.5 Miller-Dieker Syndrome
3.3.2.6 Smith-Magenis Syndrome (SMS)
3.3.2.7 Alagille Syndrome (ALGS)
3.3.2.8 CATCH 22 Syndrome
3.3.2.9 DiGeorge Syndrome
3.3.3 Autosomal Duplication Syndromes
3.3.3.1 Beckwith-Wiedemann Syndrome (BWS)
3.3.3.2 Charcot-Marie-Tooth Disease Type 1A (CMT1A)
3.3.3.3 Cat-Eye Syndrome
3.3.4 Appropriate Technologies for the Detection of Microdeletions, Duplications and Copy Number Variants
4. GENETIC COUNSELLING: AN OVERVIEW
4.1 Impact of Recent Advances in Clinical Genomics on Genetic Counselling
4.2 Genetic Counsellors in DTC GT Industry
4.2.1 Types of Genetic Counselling Offered by DTC GT Companies
4.2.2 Roles of Genetic Counsellors in DCT GT Industry
5. PRENATAL SCREENING FOR GENETIC DISEASES: AN OVERVIEW
5.1 Routine Prenatal Screening Tests
5.2 Less-Routine Prenatal Screening Tests
5.3 Beta Human Chorionic Gonadotropin (β-hCG) Screening Test
5.3.1 hCG Kits and Manufacturers
5.4 First Trimester Pregnancy-Associated Plasma Protein-A (PAPP-A) Screening Test
5.5 Maternal Serum Alpha-Fetoprotein (MSAFP) Screening Test
5.6 Second Trimester Serum β-hCG Screening Test
5.7 Second Trimester Unconjugated Estriol (uE3) Screening Test
5.8 Second Trimester Inhibin-A Screening Test
5.9 Second Trimester Hexosaminidase Test
5.10 Second Trimester Triple-Screen Quad Screen Tests
5.11 Second Trimester Screening of Cell-Free Fetal DNA (cffDNA)
5.11.1 Sensitivity and Specificity of NIPTs
5.11.2 Diagnostic Applications of cffDNA
5.11.3 Time of Availability of cffDNA in Maternal Blood
5.11.4 The Cost of NIPTs
5.11.5 Cost of NIPTs by Product
5.11.6 History of Aneuploidy Testing from 1970s to 2011
5.11.7 NIPT Methods of Detecting Aneuploidy
5.11.7.1 Shotgun Method
5.11.7.2 Targeted Massively Parallel Sequencing (t-MPS)
5.11.7.3 Single Nucleotide Polymorphisms (SNPs)
5.11.8 Comparison of Amniocentesis and NIPT
5.11.9 Advantages of NIPTs
5.11.10 Disadvantages of NIPTs
5.11.11 Comparison of Performance Criteria for Commonly used Prenatal Tests
5.11.12 Comparison of NIPT Detection Rates with Traditional Tests
5.11.13 False Positive Rates of NIPTs Compared with Those of Traditional Tests
5.11.14 Fetal Genetic Disorders Detected by NIPTs and other Screening Tests
5.12 First Trimester Ultrasound Screening Test
5.12.1 Nuchal Translucency (NT) Screening Test
5.13 Magnetic Resonance Imaging (MRI) in Prenatal Screening
5.14 Prenatal Diagnosis of Genetic Disorders
5.14.1 Amniocentesis (AC)
5.14.1.1 Reliability of Amniocentesis
5.14.2 Chorionic Villus Sampling (CVS)
5.14.2.1 Reliability of CVS Test
5.14.3 Cordocentesis or Percutaneous Umbilical Blood Sampling
5.15 Advantages and Disadvantages of Prenatal Diagnostic Tests
5.16 Future of Invasive Prenatal Diagnostic Tests
5.16.1 Indispensability of Invasive Diagnostic Tests
5.17 Intact Circulating Fetal Cells for Noninvasive Prenatal Tests
5.17.1 Scheme for Isolating Intact Fetal Cells from Maternal Blood
5.18 Trophoblast Retrieval and Isolation from Cervix (TRIC)
6. NEWBORN SCREENING
6.1 Status of Newborn Screening in Developed and Developing Countries
6.2 Status of Newborn Screening in Middle East and North Africa (MENA)
6.3 Screening Tests Recommended for Newborns in the U.S.
6.4 Most Common Newborn Genetic Disorders
6.4.1 Phenylketonuria (PKU)
6.4.1.1 Screening Tests Used for Diagnosis of PKU
6.4.2 Congenital Hypothyroidism (CHT)
6.4.2.1 Inheritance of CHT
6.4.2.2 Signs and Symptoms of CHC
6.4.2.3 Diagnosis of CHT
6.4.3 Congenital Adrenal Hyperplasia
6.4.3.1 Inheritance of Congenital Adrenal Hyperplasia
6.4.3.2 Symptoms of Congenital Adrenal Hyperplasia
6.4.3.3 Diagnosis of Congenital Adrenal Hyperplasia
6.4.4 Galactosemia
6.4.4.1 Signs and Symptoms of Galactosemia
6.4.4.2 Diagnosis of Galactosemia
6.4.5 Sickle Cell Disease (SCD)
6.4.5.1 Symptoms of SCD
6.4.5.2 Diagnosis of SCD
6.4.6 Biotidinase Deficiency
6.4.6.1 Inheritance of Biotidinase Deficiency
6.4.6.2 Signs and Symptoms of Biotidinase Deficiency
6.4.6.3 Diagnosis of Biotidinase Deficiency
6.4.7 Homocystinuria
6.4.7.1 Signs and Symptoms of Homocystinuria
6.4.7.2 Diagnosis of Homocystinuria
6.4.8 Maple Syrup Urine Disease (MSUD)
6.4.8.1 Inheritance of MSUD
6.4.8.2 Diagnosis of MSUD
7. PREIMPLANTATION GENETIC SCREENING & GENETIC DIAGNOSIS (PGS/PGD)
7.1 PGS/PGD Technologies
7.1.1 Fluorescent in situ Hybridization (FISH)
7.1.2 Array Comparative Genome Hybridization (aCGH)
7.1.3 Single Nucleotide Polymorphism (SNP) Microarray
7.1.4 Oligonucleotide Genome Sequencing (OGS)
7.1.5 Express Genome Sequencing (EGS)
7.1.6 Next Generation Sequencing (NGS)
7.2 Strengths and Weaknesses of Currently Available PGS/PGD Technologies
7.3 Genetic Diseases Detected During PGD
7.4 PGS/PGD Testing Products in the Market
7.5 Cost of in vitro Fertilization and Related Procedures
8. PREGNANCY, PRENATAL, NEWBORN AND PGD-RELATED TECHNOLOGIES: AN OVERVIEW
8.1 Beta Human Chorionic Gonadotopin (β-hCG) Test
8.1.1 Setting up the Test Strip
8.1.2 Procedure of the Test
8.1.3 Interpretation of β-hCG Test Result
8.2 Pregnancy Associated Plasma Protein-A (PAPP-A) Test
8.2.1 Principle of PAPP-A Test
8.3 Maternal Serum Alpha Fetoprotein (MSAFP) Test
8.3.1 Principle of MSAFP Test
8.4 Unconjugated Estriol (uE3) Test
8.4.1 Principle of uE3 Test
8.5 Inhibin A Test
8.5.1 Principle of Inhibin A Test
8.6 Fetal Karyotyping
8.7 Extended Banding Chromosome Studies
8.8 Innovation in Invasive Prenatal Diagnosis
8.8.1 Microarray: An Alternative for Karyotyping
8.8.2 Rapid Aneuploid Detection by Quantitative Fluorescent PCR (QF-PCR)
8.8.2.1 Principles of QF-PCR
8.8.3 Fluorescence in situ Hybridization (FISH)
8.8.3.1 The Format of Fish Test Result
8.8.3.2 Commonly Used FISH-Based Tests
8.8.3.3 Microdeletions/Microduplications Detectable by FISH
8.8.3.4 Types of FISH Probes and Their Functions
8.8.4 Microarray-Based Comparative Genomic Hybridization (array-CGH)
8.9 Advances in Prenatal Screening: The Power to Know Sooner
8.9.1 NIPTs: An Overview of Tests and Technologies
8.9.1.1 Harmony Test
8.9.1.2 InformaSeq
8.9.1.3 Panorama Test
8.9.1.4 Prena Test
8.9.1.5 NIFTY Test
8.9.1.6 IONA Test
8.9.1.7 Verifi Test
8.9.1.8 MaterniT GENOME Test
8.9.1.9 MaterniT21 PLUS Test
8.9.1.10 HeridiT UNIVERSAL Carrier Screen
8.9.2 Comparison of MaterniT21 PLUS, Verifi, Harmony and Panorama Tests
8.9.3 U.S. Patents for NIPTs by Company
8.9.3.1 Selected Issued Patents of NIPTs
8.9.3.2 Assignees of Major U.S. Patents and their Current Licensees
8.9.4 Global Availability of NIPTs
8.9.5 Cost Effectiveness of NIPTs
8.9.6 Clinical Implementation Strategies to be adopted for NIPTs
8.9.7 Integration of NIPT into Healthcare System: Patient-Directed Model
8.10 Tandem Mass Spectrometry (MS/MS) in Newborn Screening
8.11 Fetal Ultrasound in Prenatal Screening
8.11.1 Types of Fetal Ultrasound Exams
8.11.2 Best Obstetric and Gynecological Ultrasound Systems in the Market
8.11.3 Best Premium Fetal Ultrasound Machines
8.11.3.1 Philips Epiq 7
8.11.3.2 GE Voluson E8
8.11.3.3 GE Voluson E10
8.11.3.4 Samsung UGEO WS80A
8.11.4 High-End Systems
8.11.4.1 Philips Epiq 5
8.11.4.2 Philips Affinity 70
8.11.4.3 GE Voluson E6
8.11.4.4 GE Voluson S8
8.11.5 Midrange Systems
8.11.5.1 Philips Affinity 50
8.11.5.2 GE Voluson S6
8.11.5.3 Samsung AccuVix A30
8.11.5.4 Philips Clear Vue 650
8.11.6 Economy Systems
8.11.6.1 Philips Clear Vue 550
8.11.6.2 GE Logiq P5
8.11.6.3 Samsung H60
8.11.6.4 Alpinion Ecube 7
8.11.7 Portable Systems
8.11.7.1 GE Voluson 1
8.11.7.2 Samsung UGEO HM70A
8.12 Therapeutic Genome Editing: A Breakthrough Technology
8.12.1 Genome Editing Technologies
8.12.1.1 Growing Popularity of CRISPR Kits
8.12.2 Therapeutic Applications of Genome Editing
8.12.3 The First Genetically Modified Human Embryos
9. PRENATAL SCREENING AND DIAGNOSTICS: MARKET OVERVIEW
9.1 Global Market for Fetal Ultrasound
9.1.1 Market Leaders in Fetal Ultrasound
9.2 Global Market for Prenatal MRI Screening
9.3 Global Market for Maternal Serum Screening Tests
9.4 Global Market for Noninvasive Prenatal Tests (NIPTs) using cffDNA
9.4.1 Global Market for NIPTs by Product
9.5 Global Market for Prenatal Diagnostic Invasive Tests
9.6 Global Market for Newborn Screening for Genetic Diseases
9.6.1 Newborn Screening Market by Technology
9.7 Global Market for Preimplantation Screening/Diagnosis (PGS/PGD)
10. OTHER GENETIC TESTING-RELATED MARKETS
10.1 Emerging Trends in Molecular Diagnostics Market
10.2 Emerging Trends in Liquid Biopsy Market
10.3 Emerging Trends in Personalized Medicine Diagnostics Market
10.4 Emerging Trends in in vitro Diagnostics (IVD) Market
11. MARKET SWOT AND STRATEGY ANALYSIS
11.1 Acquisition Activities in Prenatal Screening Industry
11.1.1 Acquisition of BlueGenome by Illumina
11.1.2 Illumina’s Acquisition of Verinata
11.1.3 Eurofin’s Joint Venture with Emory Genetics Laboratory
11.1.4 Roche’s Acquisition of Ariosa Diagnostics
11.1.5 Cooper Surgical’s Acquisition of Reprogenetics
11.2 Market Drivers
11.3 Market Restraints
11.4 Future of Prenatal Screening
11.5 Legislation Mandating Newborn Screening by Geography
11.5.1 Newborn Screening Programs in Americas
11.5.2 Newborn Screening Programs in Asia/Pacific
11.5.3 Newborn Screening Programs in Europe
11.5.4 Newborn Screening Programs in Middle East and Northern Africa
11.6 Ethical Voices against Problamatic Applications of NIPT and NIPD
11.7 Clinical Implemention of NIPTs
11.7.1 Implementation of NIPTs in Developed Countries
11.7.3 Implementation of NIPTs in Developing and Under-Developed Countries
11.8 Adoption Rates for Different Prenatal Tests in the U.S.
12. COMPANY PROFILES
12.1 23andMe Inc.
12.1.1 23andMe’s Agreement with Pfizer
12.1.2 23andMe’s Agreement with Genentech
12.1.3 FDA’s Approval for 23andMe’s Screening Test for Bloom Syndrome
12.2 Abbott Laboratories
12.2.1 ARCHITECT AFP Assay
12.3 Abbott Molecular Inc.
12.3.1 AneuVysion
12.3.2 Cystic Fibrosis Genotyping Assay
12.4 Abcam plc
12.4.1 hCG Human ELISA Kit
12.5 AB Sciex LLC
12.6 Adaltis S.r.l
12.6.1 CLIAgen Free Beta-hCG Kit
12.7 Adaptive Biotechnologies Corp.
12.7.1 ImmunoSEQ Platform
12.7.2 ClonoSEQ
12.7.3 Pipeline
12.7.3.1 Quantifying Tumor Infiltration Lymphocytes in Solid Tumors
12.7.3.2 Measuring Immune Reconstitution Post Transplant
12.7.3.3 Diagnosing Cutaneous T-Cell Lymphoma (CTCL)
12.7.3.4 Therapeutics
12.8 Affymetrix Inc.
12.8.1 Microarray Solutions
12.8.2 Affymetrix’s Collaborating Partners
12.8.3 Affymetrix’s R&D Investment
12.9 Agena Biosciences Inc.
12.9.1 MassARRAY System
12.9.2 Acquisition of Sequenom’s Bioscience Business by Agena Biosciences
12.10 Agilent Technologies Inc.
12.10.1 SureScan Microarray Scanner
12.10.2 OneSeq
12.11 Ambry Genetics Corp.
12.11.1 Clinical Diagnostic Tests
12.12 Analogic Corp.
12.12.1 Flex Focus 500
12.12.1 SonixTouchQ+
12.12.3 SonixSP Q+
12.13 Ariosa Diagnostics Inc.
12.13.1 Harmony Test
12.13.2 Granting of Licenses to Harmony Test
12.14 Ansh Labs
12.14.1 picoPAPP-A ELISA Kit
12.14.2 Inhibin A ELISA Kit
12.15 Appistry Inc.
12.15.1 GenomePilot
11.15.2 Ayrris for NGS Analysis
12.15.3 Variant Annotation and Analysis Suite
12.15.4 CloudDx Translational
12.15.5 CloudDx Clinical
12.15.6 Appistry’s Partnership with LifeMap Sciences
12.16 ARUP Laboratories
12.16.1 Prenatal Screening and Diagnosis
12.16.2 Next-Generation Sequencing (NGS)
12.16.3 Noninvasive Prenatal Test for Aneuploids
12.17 AssureRx Health Inc.
12.17.1 GeneSight Psychotropic
12.17.2 GeneSight Analgesic
12.17.3 GeneSight ADHD
12.17.4 GeneSight MTHFR
12.18 Asuragen Inc.
12.18.1 AmplideX FMR1 PCR
12.18.2 AmplideX FMR1 mPCR
12.18.3 AmplideX Controls
12.18.4 Quantidex Pan Cancer Kit
12.18.5 Quantidex BCR/ABL1 Quant Kit
12.18.6 Quantidex DNA Assay
12.18.7 Signature Technology
12.18.8 Signature KRAS Mutations
12.18.9 Signature BRAF Mutations
12.18.10 Signature LTx v2.
12.18.11 Signature NPM1 Mutations
12.19 Athena Diagnostics Inc.
12.20 AutoGenomics Inc.
12.20.1 INFINITI System
12.21 Base4 Innovation Ltd.
12.21.1 Microdroplet Sequencing
12.22 Beckman Coulter Inc.
12.22.1 SPRIworks System I for Illumina Genome Analyzer
12.22.2 SPRIworks HT for Illumina NGS Platform
12.22.3 SPRIselect Reagent Kit
12.22.4 Automated Sample Preparation
12.22.5 Genomic Services
12.22.6 Access Total Beta-hCG Reagent
12.22.7 Access Inhibin A Assay
12.23 Berry Genomics Co., Ltd.
12.23.1 Bambni Test
12.23.2 Berry’s Partnership with Illumina
12.24 Bina Technologies Inc.
12.24.1 Bina RAVE
12.24.2 Bina AAiM
12.24.3 Bina’s Collaboration with AsraZeneca
12.25 Bio-Rad (Israel) Laboratories Inc.
12.26 BGI
12.27 Blueprint Genetics Oy
12.27.1 Services
12.28 Boreal Genomics Inc.
12.28.1 OnTarget Mutation Detection System
12.28.2 Aurora Platform
12.29 Cambridge Epigenetix Ltd.
12.29.1 TrueMethyl Seq Kit
12.29.2 TrueMethyl Array
12.30 Caris Lifesciences
12.30.1 ADAPT Biotargeting System
12.30.2 Caris Molecular Intelligence
12.30.3 Collaboration between Caris Lifesciences and Syapse
12.31 CeGaT GmbH
12.31.1 NGS Service
12.31.2 ADME Research Panel
12.31.3 Forschungsexom
12.32 Centogene AG
12.33 Chromsystems Instruments & Chemicals GmbH
12.34 Chronix Biomedical Inc.
12.34.1 Technology
12.35 Claritas Genomics Inc.
12.36 CLC bio A/S
12.36.1 Products
12.37 Combimatrix Corp.
12.37.1 CombiSNP Array for Prenatal Diagnosis
12.37.2 CombiPGS
12.38 Contec Medical Systems Co., Ltd.
12.38.1 CMS600P B-Ultrasound Diagnostic System
12.38.2 CMS600B3 B-Ultrasound Diagnostic System
12.39 Coriell Life Sciences Inc.
12.39.1 GeneDose
12.40 Correlagen Diagnostics Inc.
12.41 Counsyl Inc.
12.41.1 Family Prep Screen
12.41.2 Informed Pregnancy Screen
12.41.3 Inherited Cancer Screen
12.42 Courtagen Life Sciences Inc.
12.43 Creative Diagnostics
12.43.1 Alpha-Fetoprotein, AFP ELISA Kit
12.43.2 hCG ELISA Kit
12.43.3 Human Free Estriol ELISA Kit
12.44 Cynvenio Biosystems Inc.
12.44.1 LiquidBiopsy
12.44.2 ClearID
12.44.3 Thermo Fisher’s Distribution Agreement with Crynvenio
12.44.4 Cynvenio’s Collaboration with the University of Southern Denmark
12.45 Diagnostic Automation/Cortez Diagnostics Inc.
12.46 Demeditec Diagnostics GmbH
12.46.1 Estriol, Free/Uncojugated ELISA
12.47 DRG International Inc.
12.47.1 DRG PAPP-A ELISA
12.48 DNA Electronics Ltd.
12.48.1 Genalysis
12.49 DNA Link Inc.
12.49.1 Services
12.49.2 Partnership between Affymetrix and DNA Link Inc.
12.49.3 DNAGPS
12.49.4 AccuID
12.50 DNAnexus Inc.
12.50.1 Adoption of DNAnexus’ Cloud Genomics Platform by Natera
12.51 Eagle Biosciences Inc.
12.51.1 Alport Syndrome Kit
12.51.2 Free Beta-hCG ELISA
12.52 Eagle Genomics Ltd.
12.52.1 EagleCore
12.52.2 EagleNsembl
12.53 Enzymatics Inc.
12.53.1 Reagents
12.53.2 SPARK DNA Sample Preparation Kit
12.54 Esoate SpA
12.54.1 MyLabGamma
12.54.2 MyLab GOLD Platform
12.54.3 MyLab 50
12.54.4 MyLab 40
12.54.5 MyLab 25Gold
12.55 Eurofins MWG Operon Inc.
12.55.1 Products and Services
12.56 Exiqon A/S
12.56.1 Products and Services
12.57 Fakuda Denshi Co., Ltd.
12.57.1 UF-400AX
12.57.2 UF-550XTD
12.57.3 UF-760AG
12.57.4 UF-870AG
12.58 GATC Biotech AG
12.58.1 Sanger Sequencing
12.59 GE Healthcare Ltd.
12.59.1 VScan
12.59.2 VScan with Dual Probe
12.59.3 Logiq P5
12.59.4 Logiq P6
12.59.5 GE Venue 50
12.59.6 GE Venue 40
12.59.7 Logiq S8
12.59.8 Logiq E9
12.60 GenapSys Inc.
12.60.1 GENIUS
12.61 Gene by Gene Ltd.
12.62 Genection Inc.
12.63 GeneDx Inc.
12.63.1 Cytogenetics and Biochemical Tests
12.63.2 Deletion/Duplication Analysis
12.63.3 Carrier Mutation-Specific Testing
12.64 GenePeeks Inc.
12.64.1 Matchright Technology
12.65 Genesis Genetics
12.65.1 GeniSeq24
12.65.2 UltraPGD
12.65.3 ArrayCGH
12.66 Genetadi Biotech S.L.
12.66.1 AMNIOCHIP
12.66.2 FERTICHIP
12.66.3 PRENATAL GENE
12.67 Genoma Group Srl
12.68 Genomed AG
12.68.1 Aneufast
12.69 GenPath Diagnostics
12.69.1 InheriGen, InheriGen Plus and InheriGen Tx
12.69.2 Prenatal Tests
12.70 Genway Biotech Inc.
12.71 Good Start Genetics Inc.
12.71.1 EmbryVu
12.72 Hitachi Medical Systems America Inc.
12.72.1 Arietta 70
12.72.2 ProSound Alpha 7
12.72.3 Noblus
12.72.4 ProSound F37
12.73 Hologic Inc.
12.73.1 InPlex CF Molecular Test
12.73.2 Rapid fFN Test
12.74 Illumina Inc.
12.74.1 The Verifi Prenatal Test
12.75 INEX Innovations Exchange Pte Ltd.
12.75.1 iGene
12.75.2 FlashFISH
12.75.3 INEX’s Collaborative Agreement with BGI
12.76 Invitae Corp.
12.77 Laboratory Corporation of America Inc.
12.77.1 Services
12.78 LifeCodexx AG
12.78.1 Prena Test
12.79 Monobind Inc.
12.79.1 Fertility VAST Panel: HCG, FSH, LH, SPRL
12.79.2 PAPP-A Test
12.80 Multiplicom NV
12.80.1 Clarigo
12.81 Myriad Genetics
12.82 Natera Inc.
12.82.1 Panorama Prenatal Screen
12.82.1.1 Accuracy of Panorama Test
12.82.1.2 Minimal False Negatives in Panorama
12.82.2 Horizon Carrier Screening
12.82.3 Spectrum Preimplantation Test
12.82.4 Natera’s 24-chromosome PGS
12.82.5 Anora Miscarriage Test
12.82.6 Prenatal Paternity Test
12.82.7 Agreement between Natera and LifeLabs
12.83 Natus Medical Inc.
12.83.1 ABaer
12.83.2 Algo 5
12.83.3 Algo 3i
12.83.4 AuDX
12.83.5 Echo-Screen III
12.84 NewGene Ltd.
12.84.1 Hereditary Disorders
12.84.2 Alport Syndrome
12.84.3 Aortopathy Panel
12.84.4 RASopathy Gene Panel
12.84.5 Familial Hypercholesterolaemia
12.85 NIPD Genetics Ltd.
12.85.1 VERACITY Test (NIPT)
12.86 Oxford Gene Technology (OGT)
12.86.1 SureSeq NGS Library Preparation Kit
12.86.2 CytoSure Embryo Screen Array
12.86.3 Cytocell FISH Probes
12.86.4 CytoSure Embryo Screen Array
12.86.5 CytoSure Aneuploidy Array
12.86.6 CytoSure Chromosome X Arrays
12.87 Parabase Genomics Inc.
12.87.1 NewbornDx Test
12.88 Pathway Genomics Corp.
12.88.1 Carrier Screening
12.89 PerkinElmer Life and Analytical Sciences Inc.
12.89.1 DELFIA Xpress PIGF Assay
12.89.2 DELFIA Xpress PAPP-A Kit
12.89.3 AutoDELFIA PAPP-A Kit
12.89.4 StepOne Newborn Screens
12.90 Premaitha Health PLC
12.90.1 IONA Test
12.90.2 Premaitha’s Investment Agreement with Thermo Fisher
12.91 Progenity Inc.
12.91.1 nxtPanel Test
12.91.2 Verifi Test
12.91.3 Acquisition of Carmenta Bioscience by Progenity
12.92 Qiagen N.V.
12.92.1 Next-Generation Sequencing (NGS)
12.92.2 Target Enrichment Solutions
12.92.3 Library Construction
12.93 Quest Diagnostics Inc.
12.93.1 QNatal Advanced
12.93.2 Inhibin A
12.94 Ravgen Inc.
12.94.1 Prenatal Downs Syndrome Testing
12.94.2 Single Gene Disorder Testing
12.95 Recombine Inc.
12.95.1 CarrierMap
12.96 Reproductive Genetics Institute Inc.
12.97 Reprogenetics Laboratories
12.97.1 Array CGH (aCGH)
12.97.2 Single Gene Disorder Testing
12.97.3 WaferGen Biosystems’ Supply Agreement with Reprogenetics
12.98 Sebia Inc.
12.99 Sequenom Inc.
12.99.1 MaterniT GENOME Test
12.99.1.1 Sensitivity and Specificity of MaterniT GENOME Test
12.99.2 MaterniT21 PLUS
12.99.2.1 Sensitivity and Specificity of MaterniT21 PLUS
12.99.3 HerediT UNIVERSAL Carrier Screen
12.99.4 VisibiliT Prenatal Test
12.99.5 HerediT Cystic Fibrosis Carrier Screen
12.99.5.1 Clinical Data for HerediT
12.99.6 SensiGene Fetal RHD Genotyping
12.99.7 NextView Prenatal Diagnostic Tests
12.100 SeraCare Life Sciences Inc.
12.100.1 Seraseq Trisomy 21 Aneuploidy Reference Material
12.101 Siemens Healthcare
12.101.1 Acuson S2000
12.101.2 Acuson X700
11.101.3 Acuson X600
12.101.4 Acuson X300 PE
12.101.5 Acuson X150
12.101.6 Acuson Antares
12.101.7 Acuson P300
12.102 Sophia Genetics SA
12.102.1 Clinical Genomic Modules
12.103 SpOtOn Clinical Diagnostics Ltd.
12.103.1 Newborn Screening
12.103.2 Ante-Natal Testing
12.104 Stra Biotech GmbH
12.105 Sygnis AG
12.105.1 TruePrime Single Cell WGA Kit
12.105.2 TruePrime WGA Kit
12.105.3 TruePrime RCA Kit
12.105.4 SunScript Reverse Transcriptase RNaseH+ and RNaseH- Kits
12.105.5 SensiPhi/QualiPhi
12.106 SynapDx Corporation
12.106.1 ASD Diagnosis
12.107.1 Thermo Fisher’s Brands
12.108 Transgenomic Inc.
12.108.1 Technology Suite
12.108.2 MX-ICP Technology
12.108.3 ICEme Kit
12.108.4 Other Products
12.109 Trivitron Healthcare Private Ltd.
12.110 Trovagene Inc.
12.110.1 PCM BRAF V600E Mutation Detection Test
12.110.2 PCM KRAS Mutation Detection Test
12.110.3 PCR EGFR Mutation Detection Test
12.110.4 HPV HR Detection Test
12.111 Tute Genomics Inc.
12.111.1 Tute Platform
12.112 Warp Drive Bio LLC
12.112.1 Wrap’s New Approach
12.112.2 Chemomemes
12.112.3 Genomic Search Engine
12.113 ZS Genetics Inc.
12.113.1 3G Sequencing
12.114 Zymo Research Corporation
12.114.1 DNA Methylation Products
12.114.1.1 Bisulfite Conversion
12.114.1.2 Methylated DNA Standards
12.114.1.3 DNA Methyltransferases
12.114.1.4 5-mC ELISA
12.114.1.5 5-mC Antibodies and Immunoprecipitation
11.114.1.6 Region-Specific DNA Methylation Analysis
12.114.1.7 Global 5-mC Quantification
12.114.1.8 Genome-wide 5-mC Analysis
12.114.2 DNA Purification Products
12.114.2.1 DNA Clean-up
12.114.2.2 Plasmid DNA Purification
12.114.2.3 Genomic DNA
12.114.2.4 Microbial and Environmental DNA Isolation
12.114.2.5 DNA/RNA Co-Purification
12.114.2.6 Sample Collection and Stabilization
12.114.2.7 DNA Ladders
12.114.2.8 Enzymes
12.114.2.9 High-Throughput/Automated Isolation
12.114.2.10 DNA Analysis Kits
12.114.3 Other Products
APPENDIX
Appendix 1: Representative Companies in Prenatal and Maternal Diagnostics and their Products
Appendix 2: Sources for Tables and Graphs
INDEX OF FIGURES
Figure 1.1: Summary of Prenatal Screening, Prenatal Diagnosis, Newborn Screening and PGS/PGD Markets, Through 2021
Figure 2.1: Risk of Down Syndrome and Chromosomal Abnormalities Due to AMA
Figure 2.2: Maternal Age and Pregnancy Loss Rate
Figure 2.3: Risk of Cesarean Section with Increasing AMA
Figure 2.4: Risk of Gestational Diabetes with AMA
Figure 2.5: Risk of Placenta Previa with AMA
Figure 2.6: Delayed First Pregnancy in the U.S.
Figure 2.7: First Birth Rates for 35-39 Aged U.S. Women by Race
Figure 2.8: Pre-Existing Chronic Diseases among Women of Reproductive Ages in the U.S.
Figure 2.9: Chronic Disease Risk Behaviors and Risk Factors among Women of Reproductive Ages in the U.S.
Figure 2.10: Prevalence of Preeclampsia during Pregnancy by Race/Ethnicity in the U.S.
Figure 2.11: Prevalence of Preeclampsia by Maternal Age in the U.S.
Figure 2.12: Prevalence of Gestational Diabetes by Maternal Age in the U.S.
Figure 2.13: Prevalence of Gestational Diabetes by Maternal Race/Ethnicity in the U.S.
Figure 2.14: Causes of Preterm Labor
Figure 2.15: Prevalence of Preterm Births in the U.S. by Stage
Figure 2.16: Prevalence of Preterm Births in the U.S. by Race/Ethnicity
Figure 2.17: Prevalence of Preterm Births in the U.S. by Plurality of Birth
Figure 2.18: Prevalence of Preterm Births in the U.S. by Maternal Age
Figure 2.19: Prevalence of Multiple Births in the U.S.
Figure 3.1: Inheritance of Autosomal Dominant Faulty Gene When One Parent is a Carrier
Figure 3.2: Inheritance of Autosomal Dominant Faulty Gene When Both Parents are Carriers
Figure 3.3: Percent of Patients taking Sweat Chloride Test Reported in the U.S. Registry
Figure 3.4: Age at CF Diagnosis for all People Reported in the U.S. Registry, 2013
Figure 3.5: Distribution of Race/Ethnicity among People with CS in the U.S., 2013
Figure 3.6: Percent of New CF Diagnosis in U.S. Newborn Screenings, 1990-2013
Figure 3.7: The Six Most Common CFTR Mutations in the U.S.
Figure 3.8: Autosomal Recessive Inheritance when Both Parents are Carriers
Figure 3.9: Autosomal Recessive Inheritance with Carrier Mother and Non-Carrier Father
Figure 3.10: Autosomal Recessive Inheritance from Homozygous Recessive Mother and Carrier Father
Figure 3.11: Autosomal Recessive Inheritance from Two Affected Parents
Figure 3.12: Inheritance Pattern of Sex-Linked Dominant Disorder with Affected Mother and Carrier Father
Figure 3.13: X-Linked Recessive Inheritance with a Carrier Mother and Non-Carrier Father
Figure 3.14: X-Linked Recessive Inheritance with Normal Mother and Affected Father
Figure 3.15: Incidence of Down Syndrome by Maternal Age in the U.S.
Figure 3.16: Prevalence of Trisomies in the U.S.
Figure 3.17: Relative Frequencies of Chromosomal Anomalies in Spontaneous Abortions
Figure 3.18: Maternal Age and Chromosomal Aneuploidy Detected at Amniocentesis
Figure 5.1: Genetic Disorders (%) Detectable by Prenatal Testing Methods
Figure 5.2: Nuchal Translucency as Seen in an Ultrasound Scan
Figure 5.3: The Amniocentesis Procedure
Figure 5.4: Chorionic Villus Sampling Procedure
Figure 5.5: Transvaginal CVS Procedure
Figure 5.6: Decline in Number of Amniocentesis at Yale New Haven Hospital and Bridgeport Hospital in the U.S. between 2011 and 2013
Figure 5.6: Scheme for Isolating Intact Fetal Cells for Prenatal Genetic Diagnosis
Figure 6.1: Number of Newborn Genetic Diseases Screened in Selected Countries
Figure 6.2: The Top Four Countries with Homocystinuria Population (per 100,000)
Figure 7.1: Indications for PGD
Figure 8.1: Markings on the Test Strip
Figure 8.2: Procedure of β-hCG Test
Figure 8.3: Interpretation of β-hCG Test Result
Figure 8.4: Fetal Karyotype Showing Trisomy 21 (Down Syndrome)
Figure 8.5: Pek Heights Indicating Aneuploidy in QF-PCR Study
Figure 8.6: Diagrammatic Representation of Steps Involved in FISH Test
Figure 8.7: FISH Test Showing Chromosomal Deletion
Figure 8.8: Steps Involved in Array-CGH
Figure 8.9: History of Innovations in NIPTs from 2011-2015
Figure 8.10: Detection Rate of Harmony Test Compared with Traditional Maternal Serum Tests
Figure 8.11: Global Availability of NIPTs
Figure 8.12: Preference of NIPTs by Pregnant Women at Santa Clara Valley Medical Center
Figure 8.13: Patient-Directed Model of Integrating NIPTs into Healthcare Setting
Figure 8.14: Growing Popularity of CRISPR-Cas9 Kits
Figure 9.1: Ultrasound Imaging Market Share (%) by Clinical Application
Figure 9.2: Global Market for Fetal Ultrasound Screenong by Geography (U.S., Europe, RoW), Through 2021
Figure 9.3: Global Fetal Ultrasound Market Share by Company, 2014
Figure 9.4: Global Market for MRI Prenatal Screening by Geography (U.S., Europe, RoW), Through 2021
Figure 9.5: Global Market for Maternal Serum Screening Tests by Geography (U.S., Europe, RoW), Through 2021
Figure 9.6: Share of NIPTs Market by Geography (North America, Europe, RoW)
Figure 9.7: Global Market for NIPTs by Geography (North America, Europe, RoW), Through 2021
Figure 9.8: Global Market for NIPTs by Product
Figure 9.9: Global Market for Prenatal Invasive Diagnostic Tests by Geography (U.S., Europe, RoW), Through 2021
Figure 9.10: Global Market for Newborn Screening, Through 2021
Figure 9.11: Global Market for Newborn Screening by Technology, Through 2021
Figure 9.12: Global Market for MS/MS in Newborn Screening, Through 2021
Figure 9.13: Global Market for Pulse Oximetry in Newborn Screening, Through 2021
Figure 9.14: Global Market for Enzyme-Based Assays in Newborn Screening, Through 2021
Figure 9.15: Global Market for DNA Assays in Newborn Screening, Through 2021
Figure 9.16: Global Market for Electrophoresis in Newborn Screening, Through 2021
Figure 9.17: Geographical Share of PGS/PGD Market
Figure 9.18: Global Market for PGS/PGD by Geography (North America, Europe, RoW)
Figure 10.1: Global Market for Molecular Diagnostics, Through 2021
Figure 10.2: Global Market for Liquid Biopsy by Geography (North America, Europe, RoW), Through 2021
Table 10.3: Global Market for Personalized Medicine by Business Segment, Throgh 2021
Figure 10.4: Percent Share of IVD Market by Business Segments
Figure 10.5: Global IVD Market by Geography (North America, Europe, RoW), Through 2021
Figure 12.1: Comparison of False Negative Rates
Figure 12.2: Sensitivity and Specificity of MaterniT GENOME Test
Figure 1.1: Summary of Prenatal Screening, Prenatal Diagnosis, Newborn Screening and PGS/PGD Markets, Through 2021
Figure 2.1: Risk of Down Syndrome and Chromosomal Abnormalities Due to AMA
Figure 2.2: Maternal Age and Pregnancy Loss Rate
Figure 2.3: Risk of Cesarean Section with Increasing AMA
Figure 2.4: Risk of Gestational Diabetes with AMA
Figure 2.5: Risk of Placenta Previa with AMA
Figure 2.6: Delayed First Pregnancy in the U.S.
Figure 2.7: First Birth Rates for 35-39 Aged U.S. Women by Race
Figure 2.8: Pre-Existing Chronic Diseases among Women of Reproductive Ages in the U.S.
Figure 2.9: Chronic Disease Risk Behaviors and Risk Factors among Women of Reproductive Ages in the U.S.
Figure 2.10: Prevalence of Preeclampsia during Pregnancy by Race/Ethnicity in the U.S.
Figure 2.11: Prevalence of Preeclampsia by Maternal Age in the U.S.
Figure 2.12: Prevalence of Gestational Diabetes by Maternal Age in the U.S.
Figure 2.13: Prevalence of Gestational Diabetes by Maternal Race/Ethnicity in the U.S.
Figure 2.14: Causes of Preterm Labor
Figure 2.15: Prevalence of Preterm Births in the U.S. by Stage
Figure 2.16: Prevalence of Preterm Births in the U.S. by Race/Ethnicity
Figure 2.17: Prevalence of Preterm Births in the U.S. by Plurality of Birth
Figure 2.18: Prevalence of Preterm Births in the U.S. by Maternal Age
Figure 2.19: Prevalence of Multiple Births in the U.S.
Figure 3.1: Inheritance of Autosomal Dominant Faulty Gene When One Parent is a Carrier
Figure 3.2: Inheritance of Autosomal Dominant Faulty Gene When Both Parents are Carriers
Figure 3.3: Percent of Patients taking Sweat Chloride Test Reported in the U.S. Registry
Figure 3.4: Age at CF Diagnosis for all People Reported in the U.S. Registry, 2013
Figure 3.5: Distribution of Race/Ethnicity among People with CS in the U.S., 2013
Figure 3.6: Percent of New CF Diagnosis in U.S. Newborn Screenings, 1990-2013
Figure 3.7: The Six Most Common CFTR Mutations in the U.S.
Figure 3.8: Autosomal Recessive Inheritance when Both Parents are Carriers
Figure 3.9: Autosomal Recessive Inheritance with Carrier Mother and Non-Carrier Father
Figure 3.10: Autosomal Recessive Inheritance from Homozygous Recessive Mother and Carrier Father
Figure 3.11: Autosomal Recessive Inheritance from Two Affected Parents
Figure 3.12: Inheritance Pattern of Sex-Linked Dominant Disorder with Affected Mother and Carrier Father
Figure 3.13: X-Linked Recessive Inheritance with a Carrier Mother and Non-Carrier Father
Figure 3.14: X-Linked Recessive Inheritance with Normal Mother and Affected Father
Figure 3.15: Incidence of Down Syndrome by Maternal Age in the U.S.
Figure 3.16: Prevalence of Trisomies in the U.S.
Figure 3.17: Relative Frequencies of Chromosomal Anomalies in Spontaneous Abortions
Figure 3.18: Maternal Age and Chromosomal Aneuploidy Detected at Amniocentesis
Figure 5.1: Genetic Disorders (%) Detectable by Prenatal Testing Methods
Figure 5.2: Nuchal Translucency as Seen in an Ultrasound Scan
Figure 5.3: The Amniocentesis Procedure
Figure 5.4: Chorionic Villus Sampling Procedure
Figure 5.5: Transvaginal CVS Procedure
Figure 5.6: Decline in Number of Amniocentesis at Yale New Haven Hospital and Bridgeport Hospital in the U.S. between 2011 and 2013
Figure 5.6: Scheme for Isolating Intact Fetal Cells for Prenatal Genetic Diagnosis
Figure 6.1: Number of Newborn Genetic Diseases Screened in Selected Countries
Figure 6.2: The Top Four Countries with Homocystinuria Population (per 100,000)
Figure 7.1: Indications for PGD
Figure 8.1: Markings on the Test Strip
Figure 8.2: Procedure of β-hCG Test
Figure 8.3: Interpretation of β-hCG Test Result
Figure 8.4: Fetal Karyotype Showing Trisomy 21 (Down Syndrome)
Figure 8.5: Pek Heights Indicating Aneuploidy in QF-PCR Study
Figure 8.6: Diagrammatic Representation of Steps Involved in FISH Test
Figure 8.7: FISH Test Showing Chromosomal Deletion
Figure 8.8: Steps Involved in Array-CGH
Figure 8.9: History of Innovations in NIPTs from 2011-2015
Figure 8.10: Detection Rate of Harmony Test Compared with Traditional Maternal Serum Tests
Figure 8.11: Global Availability of NIPTs
Figure 8.12: Preference of NIPTs by Pregnant Women at Santa Clara Valley Medical Center
Figure 8.13: Patient-Directed Model of Integrating NIPTs into Healthcare Setting
Figure 8.14: Growing Popularity of CRISPR-Cas9 Kits
Figure 9.1: Ultrasound Imaging Market Share (%) by Clinical Application
Figure 9.2: Global Market for Fetal Ultrasound Screenong by Geography (U.S., Europe, RoW), Through 2021
Figure 9.3: Global Fetal Ultrasound Market Share by Company, 2014
Figure 9.4: Global Market for MRI Prenatal Screening by Geography (U.S., Europe, RoW), Through 2021
Figure 9.5: Global Market for Maternal Serum Screening Tests by Geography (U.S., Europe, RoW), Through 2021
Figure 9.6: Share of NIPTs Market by Geography (North America, Europe, RoW)
Figure 9.7: Global Market for NIPTs by Geography (North America, Europe, RoW), Through 2021
Figure 9.8: Global Market for NIPTs by Product
Figure 9.9: Global Market for Prenatal Invasive Diagnostic Tests by Geography (U.S., Europe, RoW), Through 2021
Figure 9.10: Global Market for Newborn Screening, Through 2021
Figure 9.11: Global Market for Newborn Screening by Technology, Through 2021
Figure 9.12: Global Market for MS/MS in Newborn Screening, Through 2021
Figure 9.13: Global Market for Pulse Oximetry in Newborn Screening, Through 2021
Figure 9.14: Global Market for Enzyme-Based Assays in Newborn Screening, Through 2021
Figure 9.15: Global Market for DNA Assays in Newborn Screening, Through 2021
Figure 9.16: Global Market for Electrophoresis in Newborn Screening, Through 2021
Figure 9.17: Geographical Share of PGS/PGD Market
Figure 9.18: Global Market for PGS/PGD by Geography (North America, Europe, RoW)
Figure 10.1: Global Market for Molecular Diagnostics, Through 2021
Figure 10.2: Global Market for Liquid Biopsy by Geography (North America, Europe, RoW), Through 2021
Table 10.3: Global Market for Personalized Medicine by Business Segment, Throgh 2021
Figure 10.4: Percent Share of IVD Market by Business Segments
Figure 10.5: Global IVD Market by Geography (North America, Europe, RoW), Through 2021
Figure 12.1: Comparison of False Negative Rates
Figure 12.2: Sensitivity and Specificity of MaterniT GENOME Test
INDEX OF TABLES
Table 1.1: Summary of Prenatal Screening, Prenatal Diagnosis, Newborn Screening and PGS/PGD Markets, Through 2021
Table 2.1: Risk of Down Syndrome and Chromosomal Abnormalities Due to AMA
Table 2.2: Maternal Age and Pregnancy Loss Rate
Table 2.3: Risk of Cesarean Section with Increasing AMA
Table 2.4: Risk of Gestational Diabetes with AMA
Table 2.5: Risk of Placenta Previa with AMA
Table 2.6: Delayed Fist Pregnancy in the U.S.
Table 2.7: First Birth Rates for 35-39 Aged U.S. Women by Race
Table 2.8: Maternal and Fetal Concerns due to Pre-Existing Maternal Medical Issues
Table 2.9: Pregnancy Outcome in Women with Renal Diseases
Table 2.10: Pregnancy Outcome in Women with Pre-Existing Thyroid Disease
Table 2.11: Risks Associated with Obesity in Pregnant Women
Table 2.12: Pregnancy Complications in Asthmatic Women
Table 2.13: Pregnancy Complications and Neonatal Outcome in Women with Epilepsy
Table 2.14: Maternal and Fetal Complications in Women with Autoimmune Diseases
Table 2.15: Complications due to Hemoglobinopathies in Pregnancy
Table 2.16: Prevalence of Gestational Diabetes in the U.S.
Table 2.17: Countries with Higher and Lower Rates of Preterm Births
Table 2.18: Prevalence of Preterm Births in the U.S. by Stage
Table 2.19: Prevalence of Preterm Births in the U.S. by Race/Ethnicity
Table 2.20: Prevalence of Preterm Births in the U.S. by Plurality of Birth
Table 2.21: Prevalence of Preterm Births in the U.S. by Maternal Age
Table 2.22: Related Complications of Placenta Previa
Table 2.23: Mode of Delivery for Breech Presentation
Table 2.24: Perinatal Outcome due to Meconium Stained Liquor
Table 2.25: Pregnancy Outcome due to Polyhydramnios
Table 2.26: Causes of Fetal Growth Restriction
Table 2.27: Prevalence of Congenital Cardiovascular Diseases in the U.S.
Table 3.1: Worldwide Prevalence of Huntington Disease by Selected Country
Table 3.2: Prevalence of 25 Most Common CFTR Mutations in the U.S., 2013
Table 3.3: Molecular Diagnostic Tests for Canavan Disease
Table 3.4: Incidence of Sickle Cell Disease in the U.S.
Table 3.5: Red Blood Cell Indices in Beta-Thalassaemia
Table 3.6: Molecular Genetic Tests for Beta-Thalassaemia
Table 3.7: Chances of Inheriting a Single Gene Disorder
Table 3.8: More Common Recessive Disease Traits in Selected Ethnic Groups
Table 3.9: A Comprehensive List of Genetic Disorders
Table 3.10: Turnaround Time and Average Cost for Hemophilia Genetic Tests
Table 3.11: Incidence of Chromosomal Abnormalities
Table 3.12: Karyotypes Commonly Associated with Klinefelter Syndrome
Table 3.13: Features of Turner Syndrome in Different Age Groups
Table 3.14: Some Complications of Trisomy 21 (Down Syndrome)
Table 3.15: Incidence of Down Syndrome by Maternal Age
Table 3.16: Developmental Delay in Children with Down Syndrome
Table 3.17: Frequently Observed Anomalies in Babies with Trisomy 18
Table 3.18: Common Clinical Features of Trisomy 13
Table 3.19: Congenital Anomalies Associated with Triploidy
Table 3.20: Relative Frequencies of Different Chromosomal Anomalies in Spontaneous Abortions
Table 3.21: Maternal Age-Related Frequencies of Aneuploid Fetuses Detected Prenatally
Table 3.22: Clinical Features of Common Chromosomal Aneuploidy
Table 3.23: Maternal Age and Chromosomal Aneuploidy
Table 3.24: Sensitivity and Specificity of Maternal Serum and Ultrasound Tests for Aneuploids
Table 3.25: Common Autosomal Deletions, Resulting Syndromes and Clinical Features
Table 3.26: Common Autosomal Microdeletion Syndromes
Table 3.27: Commonly Encountered Problems in Prader-Willi Syndrome
Table 3.28: Tests for Prader-Willi Syndrome
Table 3.29: Molecular Genetic Tests for CATCH 22 Syndrome
Table 3.30: Autosomal Duplication Syndromes
Table 3.31: Molecular Genetic Tests for Beckwith-Wiedemann Syndrome
Table 3.32: Molecular Diagnostic Tests for CMT1A
Table 4.1: Genetic Counseling Services by DTC GT Companies
Table 4.2: A List of Genetic Counseling Companies and Their Websites
Table 5.1: Major Prenatal Screening Tests during the First and Second Trimesters
Table 5.2: Other Routine and Non-Routine Prenatal Screening Tests
Table 5.3: hCG Levels from Date of Conception to 40th Week
Table 5.4: Selected β-hCG Kits and Manufacturers
Table 5.5: Selected PAPP-A Kits and Manufacturers
Table 5.6: Selected MSAFP Test Kits and Manufacturers
Table 5.7: Selected uE3 Test Kits and Manufacturers
Table 5.8: Selected Inhibin-A Test Kits and Manufacturers
Table 5.9: Selected Hexosaminidase Test Kits and Manufacturers
Table 5.10: Comparison of the Four Maternal Serum Screening Analyte Patterns
Table 5.11: The Five Popular Commercially Available Noninvasive Prenatal Tests (NIPTs)
Table 5.12: Sensitivity and Specificity of NIPTs
Table 5.13: Diagnostic Applications of cffDNA
Table 5.14: Time of Availability of cffDNA in Maternal Blood
Table 5.15: The Costs of NIPTs by Region/Country
Table 5.16: Costs of NIPTs by Product in the U.S.
Table 5.17: History of Aneuploidy Screening
Table 5.18: NIPT Methods for Detecting Aneuploidy
Table 5.19: Comparison of Amniocentesis and NIPTs
Table 5.20: Advantages and Disadvantages of NIPTs
Table 5.21: Comparison of Performance Criteria for Commonly Used Prenatal Tests
Table 5.22: Comparison of NIPT Detection Rates with Traditional Tests
Table 5.23: False Positive Rates of NIPTs Compared with those of Traditional Tests
Table 5.24: Different Applications of Ultrasound in Different Trimesters
Table 5.25: MRI Indications for Prenatal Screening when Ultrasound Screening is Inadequate
Table 5.26: Prenatal Diagnostic Tests by Pregnancy Stage
Table 5.27: Comparison of CVS and Amniocentesis
Table 5.28: Advantages and Disadvantages of Prenatal Diagnostic Tests
Table 5.29: Comparison of Prenatal Tests using Cell-Free Fetal DNA (cffDNA) and Intact Fetal Cells from Maternal Blood
Table 6.1: Thirty One Core Conditions Detected During Newborn Screening
Table 6.2: Categories of Newborn Genetic Disorders
Table 6.3: Metabolic Genetic Disorders Detectable by MS/MS and their Scores
Table 6.4: Incidence of PKU by Region
Table 6.5: Molecular Genetic Tests for Biotidinase Deficiency
Table 7.1: Advantages and Disadvantages of Currently Available PGS/PGD Technologies
Table 7.2: Genetic Diseases Detected During PGS/PGD
Table 7.3: Currently Available Products for PGS/PGD
Table 7.4: Cost of in vitro Fertilization and Related Procedures
Table 8.1: Karyotype vs. Microarray
Table 8.2: The Format of FISH Test Result
Table 8.3: Some Commonly Used FISH-Based Tests
Table 8.4: Microdeletions/Microduplications Detectable by FISH
Table 8.5: FISH Probes and Functions
Table 8.6: Presentation Format of Array-CGH Test Report
Table 8.7: Harmony vs. Traditional Down Syndrome Tests
Table 8.8: Predictive Value, Sensitivity and Specificity of InformaSeq Test
Table 8.9: Detection Rates of Panorama Test
Table 8.10: NIFTY Test Options
Table 8.11: Clinical Data for IONA Test
Table 8.12: Sensitivity and Specificity of Verifi Test
Table 8.13: Sensitivity and Specificity of Verifi’s Microdeletion Panel
Table 8.14: Comparison of MaterniT GENOME Test and Karyotype
Table 8.15: Sensitivity and Specificity of MaterniT GENOME Test
Table 8.16: MaterniT21 PLUS’ Independent Validation
Table 8.17: The Three Panels Offered by HeridiT UNIVERSAL Carrier Screen
Table 8.18: Comparison of the Four Major NIPT Products available in the U.S. Market
Table 8.19: U.S. Patents for NIPTs by Company
Table 8.20: Selected Issued Patents of NIPTs
Table 8.21: Major U.S. Patents and Applications
Table 8.22: Countries in Which NIPT is currently Marketed
Table 8.23: Detection, Uptake, False Positive and Failure Rates for NIPTs
Table 8.24: Cost of Different Prenatal Screens
Table 8.25: Disease Types Targeted by Different Nuclease Platforms
Table 9.1: Global Market for Fetal Ultrasound Screenong by Geography (U.S., Europe, RoW), Through 2021
Table 9.2: Global Fetal Ultrasound Market Share by Company, 2014
Table 9.3: Global Market for MRI Prenatal Screening by Geography (U.S., Europe and RoW), Through 2021
Table 9.4: Global Market for Maternal Serum Screening Tests by Geography (U.S., Europe, RoW), Through 2021
Table 9.5: Global Market for NIPTs by Geography (North America, Europe, RoW), Through 2021
Table 9.6: Global Market for NIPTs by Product
Table 9.7: Global Market for Prenatal Invasive Diagnostic Tests by Geography (U.S., Europe, RoW), Through 2021
Table 9.8: Global Market for Newborn Screening by Technology, Through 2021
Table 9.9: Global Market for PGS/PGD by Geography (North America, Europe, RoW), Through 2021
Table 10.1: Global Market for Liquid Biopsy by Region (North America, Europe, RoW), Through 2021
Table 10.2: Global Market for Personalized Medicine by Business Segment, Throgh 2021
Table 10.3: Global IVD Market by Geography (North America, Europe, RoW), Through 2021
Table 11.1: Adoption Rates for Different Prenatal Tests in the U.S.
Table 12.1: Financial Data for Affymetrix
Table 12.2: Selected Financial Data for Agilent Technologies
Table 12.3: Comparison of Harmony and Other Traditional Tests
Table 12.4: CombiSNP Prenatal Targeted Array Disorder List
Table 12.5: Genetic Tests Offered by Correlagen by Gene and Disease
Table 12.6: GeneDx’s Cytogenetics and Biochemical Tests
Table 12.7: Hologic’s Financial Data
Table 12.8: Performance of Verifi Test
Table 12.9: Verifi Prenatal Test Lab Partners in the U.S.
Table 12.10: Illumina’s Financial Data
Table 12.11: Comparison of Prenatal Test Performance
Table 12.12: Comparison of False Negative Rates
Table 12.13: A Small Sample of Diseases Screened by Horizon Test
Table 12.14: Natus Medical’s Financial Data
Table 12.15: Clinical Data for IONA Test
Table 12.16: Sensitivity and Specificity of MaterniT GENOME Test
Table 12.17: Sequenom’s Financial Data
Table 12.18: Sensitivity and Specificity of MaterniT21 PLUS Test
Table 12.19: Three Options Offered by HeridiT UNIVERSAL Carrier Screen
Table 12.20: Clinical Evaluation Performance of VisibiliT Prenatal Test
Table 12.21: CF Detection Rates for Standard and Expanded Panels
Table 12.22: Accuracy, Sensitivity and Specificity of SensiGene Fetal RHD
Table 12.23: NextView Diagnostic Test Platforms
Table 12.24: Trovogene’s Financial Data
Table Ap. 1.1: Participating Companies and their Products and Services
Table 1.1: Summary of Prenatal Screening, Prenatal Diagnosis, Newborn Screening and PGS/PGD Markets, Through 2021
Table 2.1: Risk of Down Syndrome and Chromosomal Abnormalities Due to AMA
Table 2.2: Maternal Age and Pregnancy Loss Rate
Table 2.3: Risk of Cesarean Section with Increasing AMA
Table 2.4: Risk of Gestational Diabetes with AMA
Table 2.5: Risk of Placenta Previa with AMA
Table 2.6: Delayed Fist Pregnancy in the U.S.
Table 2.7: First Birth Rates for 35-39 Aged U.S. Women by Race
Table 2.8: Maternal and Fetal Concerns due to Pre-Existing Maternal Medical Issues
Table 2.9: Pregnancy Outcome in Women with Renal Diseases
Table 2.10: Pregnancy Outcome in Women with Pre-Existing Thyroid Disease
Table 2.11: Risks Associated with Obesity in Pregnant Women
Table 2.12: Pregnancy Complications in Asthmatic Women
Table 2.13: Pregnancy Complications and Neonatal Outcome in Women with Epilepsy
Table 2.14: Maternal and Fetal Complications in Women with Autoimmune Diseases
Table 2.15: Complications due to Hemoglobinopathies in Pregnancy
Table 2.16: Prevalence of Gestational Diabetes in the U.S.
Table 2.17: Countries with Higher and Lower Rates of Preterm Births
Table 2.18: Prevalence of Preterm Births in the U.S. by Stage
Table 2.19: Prevalence of Preterm Births in the U.S. by Race/Ethnicity
Table 2.20: Prevalence of Preterm Births in the U.S. by Plurality of Birth
Table 2.21: Prevalence of Preterm Births in the U.S. by Maternal Age
Table 2.22: Related Complications of Placenta Previa
Table 2.23: Mode of Delivery for Breech Presentation
Table 2.24: Perinatal Outcome due to Meconium Stained Liquor
Table 2.25: Pregnancy Outcome due to Polyhydramnios
Table 2.26: Causes of Fetal Growth Restriction
Table 2.27: Prevalence of Congenital Cardiovascular Diseases in the U.S.
Table 3.1: Worldwide Prevalence of Huntington Disease by Selected Country
Table 3.2: Prevalence of 25 Most Common CFTR Mutations in the U.S., 2013
Table 3.3: Molecular Diagnostic Tests for Canavan Disease
Table 3.4: Incidence of Sickle Cell Disease in the U.S.
Table 3.5: Red Blood Cell Indices in Beta-Thalassaemia
Table 3.6: Molecular Genetic Tests for Beta-Thalassaemia
Table 3.7: Chances of Inheriting a Single Gene Disorder
Table 3.8: More Common Recessive Disease Traits in Selected Ethnic Groups
Table 3.9: A Comprehensive List of Genetic Disorders
Table 3.10: Turnaround Time and Average Cost for Hemophilia Genetic Tests
Table 3.11: Incidence of Chromosomal Abnormalities
Table 3.12: Karyotypes Commonly Associated with Klinefelter Syndrome
Table 3.13: Features of Turner Syndrome in Different Age Groups
Table 3.14: Some Complications of Trisomy 21 (Down Syndrome)
Table 3.15: Incidence of Down Syndrome by Maternal Age
Table 3.16: Developmental Delay in Children with Down Syndrome
Table 3.17: Frequently Observed Anomalies in Babies with Trisomy 18
Table 3.18: Common Clinical Features of Trisomy 13
Table 3.19: Congenital Anomalies Associated with Triploidy
Table 3.20: Relative Frequencies of Different Chromosomal Anomalies in Spontaneous Abortions
Table 3.21: Maternal Age-Related Frequencies of Aneuploid Fetuses Detected Prenatally
Table 3.22: Clinical Features of Common Chromosomal Aneuploidy
Table 3.23: Maternal Age and Chromosomal Aneuploidy
Table 3.24: Sensitivity and Specificity of Maternal Serum and Ultrasound Tests for Aneuploids
Table 3.25: Common Autosomal Deletions, Resulting Syndromes and Clinical Features
Table 3.26: Common Autosomal Microdeletion Syndromes
Table 3.27: Commonly Encountered Problems in Prader-Willi Syndrome
Table 3.28: Tests for Prader-Willi Syndrome
Table 3.29: Molecular Genetic Tests for CATCH 22 Syndrome
Table 3.30: Autosomal Duplication Syndromes
Table 3.31: Molecular Genetic Tests for Beckwith-Wiedemann Syndrome
Table 3.32: Molecular Diagnostic Tests for CMT1A
Table 4.1: Genetic Counseling Services by DTC GT Companies
Table 4.2: A List of Genetic Counseling Companies and Their Websites
Table 5.1: Major Prenatal Screening Tests during the First and Second Trimesters
Table 5.2: Other Routine and Non-Routine Prenatal Screening Tests
Table 5.3: hCG Levels from Date of Conception to 40th Week
Table 5.4: Selected β-hCG Kits and Manufacturers
Table 5.5: Selected PAPP-A Kits and Manufacturers
Table 5.6: Selected MSAFP Test Kits and Manufacturers
Table 5.7: Selected uE3 Test Kits and Manufacturers
Table 5.8: Selected Inhibin-A Test Kits and Manufacturers
Table 5.9: Selected Hexosaminidase Test Kits and Manufacturers
Table 5.10: Comparison of the Four Maternal Serum Screening Analyte Patterns
Table 5.11: The Five Popular Commercially Available Noninvasive Prenatal Tests (NIPTs)
Table 5.12: Sensitivity and Specificity of NIPTs
Table 5.13: Diagnostic Applications of cffDNA
Table 5.14: Time of Availability of cffDNA in Maternal Blood
Table 5.15: The Costs of NIPTs by Region/Country
Table 5.16: Costs of NIPTs by Product in the U.S.
Table 5.17: History of Aneuploidy Screening
Table 5.18: NIPT Methods for Detecting Aneuploidy
Table 5.19: Comparison of Amniocentesis and NIPTs
Table 5.20: Advantages and Disadvantages of NIPTs
Table 5.21: Comparison of Performance Criteria for Commonly Used Prenatal Tests
Table 5.22: Comparison of NIPT Detection Rates with Traditional Tests
Table 5.23: False Positive Rates of NIPTs Compared with those of Traditional Tests
Table 5.24: Different Applications of Ultrasound in Different Trimesters
Table 5.25: MRI Indications for Prenatal Screening when Ultrasound Screening is Inadequate
Table 5.26: Prenatal Diagnostic Tests by Pregnancy Stage
Table 5.27: Comparison of CVS and Amniocentesis
Table 5.28: Advantages and Disadvantages of Prenatal Diagnostic Tests
Table 5.29: Comparison of Prenatal Tests using Cell-Free Fetal DNA (cffDNA) and Intact Fetal Cells from Maternal Blood
Table 6.1: Thirty One Core Conditions Detected During Newborn Screening
Table 6.2: Categories of Newborn Genetic Disorders
Table 6.3: Metabolic Genetic Disorders Detectable by MS/MS and their Scores
Table 6.4: Incidence of PKU by Region
Table 6.5: Molecular Genetic Tests for Biotidinase Deficiency
Table 7.1: Advantages and Disadvantages of Currently Available PGS/PGD Technologies
Table 7.2: Genetic Diseases Detected During PGS/PGD
Table 7.3: Currently Available Products for PGS/PGD
Table 7.4: Cost of in vitro Fertilization and Related Procedures
Table 8.1: Karyotype vs. Microarray
Table 8.2: The Format of FISH Test Result
Table 8.3: Some Commonly Used FISH-Based Tests
Table 8.4: Microdeletions/Microduplications Detectable by FISH
Table 8.5: FISH Probes and Functions
Table 8.6: Presentation Format of Array-CGH Test Report
Table 8.7: Harmony vs. Traditional Down Syndrome Tests
Table 8.8: Predictive Value, Sensitivity and Specificity of InformaSeq Test
Table 8.9: Detection Rates of Panorama Test
Table 8.10: NIFTY Test Options
Table 8.11: Clinical Data for IONA Test
Table 8.12: Sensitivity and Specificity of Verifi Test
Table 8.13: Sensitivity and Specificity of Verifi’s Microdeletion Panel
Table 8.14: Comparison of MaterniT GENOME Test and Karyotype
Table 8.15: Sensitivity and Specificity of MaterniT GENOME Test
Table 8.16: MaterniT21 PLUS’ Independent Validation
Table 8.17: The Three Panels Offered by HeridiT UNIVERSAL Carrier Screen
Table 8.18: Comparison of the Four Major NIPT Products available in the U.S. Market
Table 8.19: U.S. Patents for NIPTs by Company
Table 8.20: Selected Issued Patents of NIPTs
Table 8.21: Major U.S. Patents and Applications
Table 8.22: Countries in Which NIPT is currently Marketed
Table 8.23: Detection, Uptake, False Positive and Failure Rates for NIPTs
Table 8.24: Cost of Different Prenatal Screens
Table 8.25: Disease Types Targeted by Different Nuclease Platforms
Table 9.1: Global Market for Fetal Ultrasound Screenong by Geography (U.S., Europe, RoW), Through 2021
Table 9.2: Global Fetal Ultrasound Market Share by Company, 2014
Table 9.3: Global Market for MRI Prenatal Screening by Geography (U.S., Europe and RoW), Through 2021
Table 9.4: Global Market for Maternal Serum Screening Tests by Geography (U.S., Europe, RoW), Through 2021
Table 9.5: Global Market for NIPTs by Geography (North America, Europe, RoW), Through 2021
Table 9.6: Global Market for NIPTs by Product
Table 9.7: Global Market for Prenatal Invasive Diagnostic Tests by Geography (U.S., Europe, RoW), Through 2021
Table 9.8: Global Market for Newborn Screening by Technology, Through 2021
Table 9.9: Global Market for PGS/PGD by Geography (North America, Europe, RoW), Through 2021
Table 10.1: Global Market for Liquid Biopsy by Region (North America, Europe, RoW), Through 2021
Table 10.2: Global Market for Personalized Medicine by Business Segment, Throgh 2021
Table 10.3: Global IVD Market by Geography (North America, Europe, RoW), Through 2021
Table 11.1: Adoption Rates for Different Prenatal Tests in the U.S.
Table 12.1: Financial Data for Affymetrix
Table 12.2: Selected Financial Data for Agilent Technologies
Table 12.3: Comparison of Harmony and Other Traditional Tests
Table 12.4: CombiSNP Prenatal Targeted Array Disorder List
Table 12.5: Genetic Tests Offered by Correlagen by Gene and Disease
Table 12.6: GeneDx’s Cytogenetics and Biochemical Tests
Table 12.7: Hologic’s Financial Data
Table 12.8: Performance of Verifi Test
Table 12.9: Verifi Prenatal Test Lab Partners in the U.S.
Table 12.10: Illumina’s Financial Data
Table 12.11: Comparison of Prenatal Test Performance
Table 12.12: Comparison of False Negative Rates
Table 12.13: A Small Sample of Diseases Screened by Horizon Test
Table 12.14: Natus Medical’s Financial Data
Table 12.15: Clinical Data for IONA Test
Table 12.16: Sensitivity and Specificity of MaterniT GENOME Test
Table 12.17: Sequenom’s Financial Data
Table 12.18: Sensitivity and Specificity of MaterniT21 PLUS Test
Table 12.19: Three Options Offered by HeridiT UNIVERSAL Carrier Screen
Table 12.20: Clinical Evaluation Performance of VisibiliT Prenatal Test
Table 12.21: CF Detection Rates for Standard and Expanded Panels
Table 12.22: Accuracy, Sensitivity and Specificity of SensiGene Fetal RHD
Table 12.23: NextView Diagnostic Test Platforms
Table 12.24: Trovogene’s Financial Data
Table Ap. 1.1: Participating Companies and their Products and Services
