Global Prenatal & Maternal Diagnostic Market to 2021
According to WHO, nearly 140 million babies are born every year, out of which 5 million die in the first month of life, mostly in developing countries. For example, in India, about 5% to 15% of sick newborns have a metabolic disorder. This emphasizes the need for newborn screening for preventing disability and death by early intervention, follow-up and counselling.
Globally, the use of maternal serum marker screening and ultrasound imaging for the detection of chromosome aneuploidies and other birth defects constitute a routine part of prenatal care in the first and/or second trimesters. Yet, both of these techniques have the disadvantages of high false positive rates, varying from 2% to 7%. If the results of these tests show that a fetus is at increased risk of aneuploidy, invasive approaches such as chorionic villus sampling (CVS) or amniocentesis are recommended for diagnosis.
Fetal Ultrasound Screening Market
Today, ultrasound is used on average five times per pregnancy before delivery. The fetal ultrasound screening market generated revenues of about $x million in 2014 with the potential to earn $x million in 2021, growing at a CAGR of x%. Fetal MRI prenatal screening is performed rarely, only when the ultrasound screening provides an ambiguous result and to detect suspected central nervous system (CNS) disorders in the fetus during the second trimester. The fetal MRI segment had generated estimated revenue of $x million in 2014 with a potential to earn $x million in 2021.
Maternal Serum Testing Market
The global maternal serum test market was worth $x million in 2014 and is forecast to grow and reach $x million by 2021. The market consists of test methods for:
Noninvasive Prenatal Test Market
Noninvasive prenatal tests (NIPTs) are the future of prenatal screening and have shown signs of surpassing the traditional maternal serum test revenues by earning about $x million in 2014. With a CAGR of x%, this market is forecast to reach $x million in 2021.
Newborn Screening Market
Newborn screening is an accepted national health policy in about 52 countries. It is a well-entrenched routine of newborn care in the U.S., U.K., Japan, Australia and most western European countries for the last three decades. In the Asian continent, China, Philippines and Thailand have developed admirable newborn screening programs in a relatively short period of time. Mass spectrometry has become the standard technique for newborn screening. Using this technique, medical technologists are capable of screening as many as 30 metabolic disorders from a single sample of blood. The global market for newborn screening has been valued at $x million in 2014 and it will be worth about $x million by 2021.
Preimplantation Genetic Diagnosis Market
Preimplantation genetic diagnosis (PGD) has been in practice for more than twenty years in about 60 countries globally. PGD testing is performed to identify genetic defects in embryos. The tests are usually performed in cases of a known genetic defect, in late age pregnancy, or in patients with a history of repeated miscarriages. PCR, FISH, CGH, and SNP analysis are some of the most common techniques used, and PCR is the most widely used technology. The global market for PGD was worth about $x million in 2014 and this has been predicted to enlarge and reach $x million in 2021.
Globally, the use of maternal serum marker screening and ultrasound imaging for the detection of chromosome aneuploidies and other birth defects constitute a routine part of prenatal care in the first and/or second trimesters. Yet, both of these techniques have the disadvantages of high false positive rates, varying from 2% to 7%. If the results of these tests show that a fetus is at increased risk of aneuploidy, invasive approaches such as chorionic villus sampling (CVS) or amniocentesis are recommended for diagnosis.
Fetal Ultrasound Screening Market
Today, ultrasound is used on average five times per pregnancy before delivery. The fetal ultrasound screening market generated revenues of about $x million in 2014 with the potential to earn $x million in 2021, growing at a CAGR of x%. Fetal MRI prenatal screening is performed rarely, only when the ultrasound screening provides an ambiguous result and to detect suspected central nervous system (CNS) disorders in the fetus during the second trimester. The fetal MRI segment had generated estimated revenue of $x million in 2014 with a potential to earn $x million in 2021.
Maternal Serum Testing Market
The global maternal serum test market was worth $x million in 2014 and is forecast to grow and reach $x million by 2021. The market consists of test methods for:
- Pregnancy-associated plasma protein (PAPP-A)
- Alpha-fetoprotein (AFP)
- Human chorionic gonadotropin (hCG)
- Estriol
- Inhibin-A
Noninvasive Prenatal Test Market
Noninvasive prenatal tests (NIPTs) are the future of prenatal screening and have shown signs of surpassing the traditional maternal serum test revenues by earning about $x million in 2014. With a CAGR of x%, this market is forecast to reach $x million in 2021.
Newborn Screening Market
Newborn screening is an accepted national health policy in about 52 countries. It is a well-entrenched routine of newborn care in the U.S., U.K., Japan, Australia and most western European countries for the last three decades. In the Asian continent, China, Philippines and Thailand have developed admirable newborn screening programs in a relatively short period of time. Mass spectrometry has become the standard technique for newborn screening. Using this technique, medical technologists are capable of screening as many as 30 metabolic disorders from a single sample of blood. The global market for newborn screening has been valued at $x million in 2014 and it will be worth about $x million by 2021.
Preimplantation Genetic Diagnosis Market
Preimplantation genetic diagnosis (PGD) has been in practice for more than twenty years in about 60 countries globally. PGD testing is performed to identify genetic defects in embryos. The tests are usually performed in cases of a known genetic defect, in late age pregnancy, or in patients with a history of repeated miscarriages. PCR, FISH, CGH, and SNP analysis are some of the most common techniques used, and PCR is the most widely used technology. The global market for PGD was worth about $x million in 2014 and this has been predicted to enlarge and reach $x million in 2021.
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 COUNSELING: AN OVERVIEW
4.1 Impact of Recent Advances in Clinical Genomics on Genetic Counseling
4.2 Genetic Counselors in DTC GT Industry
4.2.1 Types of Genetic Counseling Offered by DTC GT Companies
4.2.2 Roles of Genetic Counselors 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 (?-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 ?-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. PRECONCEPTION/CARRIER SCREENING
7.1 Introduction
7.2 What are the Main Commercially Available Carrier Tests on the Market?
7.3 Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis (PGS/PGD)
7.4 PGS/PGD Technologies
7.4.1 Fluorescent in situ Hybridization (FISH)
7.4.2 Array Comparative Genome Hybridization (aCGH)
7.4.3 Single Nucleotide Polymorphism (SNP) Microarray
7.4.4 Oligonucleotide Genome Sequencing (OGS)
7.4.5 Express Genome Sequencing (EGS)
7.4.6 Next Generation Sequencing (NGS)
7.5 Strengths and Weaknesses of Currently Available PGS/PGD Technologies
7.6 Genetic Diseases Detected During PGD
7.7 PGS/PGD Testing Products in the Market
7.8 Cost of in vitro Fertilization and Related Procedures
8. PREGNANCY, PRENATAL, NEWBORN AND PGD-RELATED TECHNOLOGIES: AN OVERVIEW
8.1 Beta Human Chorionic Gonadotopin (?-hCG) Test
8.1.1 Setting up the Test Strip
8.1.2 Procedure of the Test
8.1.3 Interpretation of ?-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
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
8.11.4.2 Philips Affinity
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
8.11.5.2 GE Voluson S6
8.11.5.3 Samsung AccuVix A30
8.11.5.4 Philips Clear Vue
8.11.6 Economy Systems
8.11.6.1 Philips Clear Vue
8.11.6.2 GE Logiq P5
8.11.6.3 Samsung H60
8.11.6.4 Alpinion Ecube
8.11.7 Portable Systems
8.11.7.1 GE Voluson
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. MARKET ANALYSIS
9.1 Preconception/Carrier Screen Market Analysis
9.1.1 Major Players in the Preconception/Carrier Testing Market
9.1.2 Market Size of Multi-Panel and Expanded Screening Market
9.2 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
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 erry 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
12.54.4 MyLab
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
12.59.6 GE Venue
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
12.72.2 ProSound Alpha
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
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 COUNSELING: AN OVERVIEW
4.1 Impact of Recent Advances in Clinical Genomics on Genetic Counseling
4.2 Genetic Counselors in DTC GT Industry
4.2.1 Types of Genetic Counseling Offered by DTC GT Companies
4.2.2 Roles of Genetic Counselors 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 (?-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 ?-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. PRECONCEPTION/CARRIER SCREENING
7.1 Introduction
7.2 What are the Main Commercially Available Carrier Tests on the Market?
7.3 Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis (PGS/PGD)
7.4 PGS/PGD Technologies
7.4.1 Fluorescent in situ Hybridization (FISH)
7.4.2 Array Comparative Genome Hybridization (aCGH)
7.4.3 Single Nucleotide Polymorphism (SNP) Microarray
7.4.4 Oligonucleotide Genome Sequencing (OGS)
7.4.5 Express Genome Sequencing (EGS)
7.4.6 Next Generation Sequencing (NGS)
7.5 Strengths and Weaknesses of Currently Available PGS/PGD Technologies
7.6 Genetic Diseases Detected During PGD
7.7 PGS/PGD Testing Products in the Market
7.8 Cost of in vitro Fertilization and Related Procedures
8. PREGNANCY, PRENATAL, NEWBORN AND PGD-RELATED TECHNOLOGIES: AN OVERVIEW
8.1 Beta Human Chorionic Gonadotopin (?-hCG) Test
8.1.1 Setting up the Test Strip
8.1.2 Procedure of the Test
8.1.3 Interpretation of ?-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
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
8.11.4.2 Philips Affinity
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
8.11.5.2 GE Voluson S6
8.11.5.3 Samsung AccuVix A30
8.11.5.4 Philips Clear Vue
8.11.6 Economy Systems
8.11.6.1 Philips Clear Vue
8.11.6.2 GE Logiq P5
8.11.6.3 Samsung H60
8.11.6.4 Alpinion Ecube
8.11.7 Portable Systems
8.11.7.1 GE Voluson
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. MARKET ANALYSIS
9.1 Preconception/Carrier Screen Market Analysis
9.1.1 Major Players in the Preconception/Carrier Testing Market
9.1.2 Market Size of Multi-Panel and Expanded Screening Market
9.2 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
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 erry 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
12.54.4 MyLab
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
12.59.6 GE Venue
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
12.72.2 ProSound Alpha
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
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 Fath
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 ?-hCG Test
Figure 8.3: Interpretation of ?-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: Global Carrier Screen Test Market 2015-2020
Figure 9.2: Geographical Breakdown of Carrier Screen Test Market, USA, EU, RoW 2015-2020
Figure 9.3: Ultrasound Imaging Market Share (%) by Clinical Application
Figure 9.4: Global Market for Fetal Ultrasound Screenong by Geography (U.S., Europe, RoW), Through 2021
Figure 9.5: Global Fetal Ultrasound Market Share by Company, 2014
Figure 9.6: Global Market for MRI Prenatal Screening by Geography (U.S., Europe, RoW), Through 2021
Figure 9.7: Global Market for Maternal Serum Screening Tests by Geography (U.S., Europe, RoW), Through 2021
Figure 9.8: Share of NIPTs Market by Geography (North America, Europe, RoW)
Figure 9.9: Global Market for NIPTs by Geography (North America, Europe, RoW), Through 2021
Figure 9.10: Global Market for NIPTs by Product
Figure 9.11: Global Market for Prenatal Invasive Diagnostic Tests by Geography (U.S., Europe, RoW), Through 2021
Figure 9.12: Global Market for Newborn Screening, Through 2021
Figure 9.13: Global Market for Newborn Screening by Technology, Through 2021
Figure 9.14: Global Market for MS/MS in Newborn Screening, Through 2021
Figure 9.15: Global Market for Pulse Oximetry in Newborn Screening, Through 2021
Figure 9.16: Global Market for Enzyme-Based Assays in Newborn Screening, Through 2021
Figure 9.17: Global Market for DNA Assays in Newborn Screening, Through 2021
Figure 9.18: Global Market for Electrophoresis in Newborn Screening, Through 2021
Figure 9.19: Geographical Share of PGS/PGD Market
Figure 9.20: 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 Fath
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 ?-hCG Test
Figure 8.3: Interpretation of ?-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: Global Carrier Screen Test Market 2015-2020
Figure 9.2: Geographical Breakdown of Carrier Screen Test Market, USA, EU, RoW 2015-2020
Figure 9.3: Ultrasound Imaging Market Share (%) by Clinical Application
Figure 9.4: Global Market for Fetal Ultrasound Screenong by Geography (U.S., Europe, RoW), Through 2021
Figure 9.5: Global Fetal Ultrasound Market Share by Company, 2014
Figure 9.6: Global Market for MRI Prenatal Screening by Geography (U.S., Europe, RoW), Through 2021
Figure 9.7: Global Market for Maternal Serum Screening Tests by Geography (U.S., Europe, RoW), Through 2021
Figure 9.8: Share of NIPTs Market by Geography (North America, Europe, RoW)
Figure 9.9: Global Market for NIPTs by Geography (North America, Europe, RoW), Through 2021
Figure 9.10: Global Market for NIPTs by Product
Figure 9.11: Global Market for Prenatal Invasive Diagnostic Tests by Geography (U.S., Europe, RoW), Through 2021
Figure 9.12: Global Market for Newborn Screening, Through 2021
Figure 9.13: Global Market for Newborn Screening by Technology, Through 2021
Figure 9.14: Global Market for MS/MS in Newborn Screening, Through 2021
Figure 9.15: Global Market for Pulse Oximetry in Newborn Screening, Through 2021
Figure 9.16: Global Market for Enzyme-Based Assays in Newborn Screening, Through 2021
Figure 9.17: Global Market for DNA Assays in Newborn Screening, Through 2021
Figure 9.18: Global Market for Electrophoresis in Newborn Screening, Through 2021
Figure 9.19: Geographical Share of PGS/PGD Market
Figure 9.20: 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
Table 3.18: Common Clinical Features of Trisomy
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 ?-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: Number of Genetic Disease States with Carrier Status
Table 7.2: Carrier Risk of Most Common Genetic Diseases by Ethnic Group
Table 7.3: Select Commercially Available Genetic Assays for Carrier Screening by Company and Diseases Detected
Table 7.4: Advantages and Disadvantages of Currently Available PGS/PGD Technologies
Table 7.5: Genetic Diseases Detected During PGS/PGD
Table 7.6: Currently Available Products for PGS/PGD
Table 7.7: 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 Carrier Screen Test Market 2015-2020 US$ Million
Table 9.2: Geographical Carrier Screen Test Market 2015-2020 US$ Millions, USA, EU, RoW
Table 9.3: Global Market for Fetal Ultrasound Screenong by Geography (U.S., Europe, RoW), Through 2021
Table 9.4: Global Fetal Ultrasound Market Share by Company, 2014
Table 9.5: Global Market for MRI Prenatal Screening by Geography (U.S., Europe and RoW), Through 2021
Table 9.6: Global Market for Maternal Serum Screening Tests by Geography (U.S., Europe, RoW), Through 2021
Table 9.7: Global Market for NIPTs by Geography (North America, Europe, RoW), Through 2021
Table 9.8: Global Market for NIPTs by Product
Table 9.9: Global Market for Prenatal Invasive Diagnostic Tests by Geography (U.S., Europe, RoW), Through 2021
Table 9.10:Global Market for Newborn Screening by Technology, Through 2021
Table 9.11: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
Table 3.18: Common Clinical Features of Trisomy
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 ?-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: Number of Genetic Disease States with Carrier Status
Table 7.2: Carrier Risk of Most Common Genetic Diseases by Ethnic Group
Table 7.3: Select Commercially Available Genetic Assays for Carrier Screening by Company and Diseases Detected
Table 7.4: Advantages and Disadvantages of Currently Available PGS/PGD Technologies
Table 7.5: Genetic Diseases Detected During PGS/PGD
Table 7.6: Currently Available Products for PGS/PGD
Table 7.7: 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 Carrier Screen Test Market 2015-2020 US$ Million
Table 9.2: Geographical Carrier Screen Test Market 2015-2020 US$ Millions, USA, EU, RoW
Table 9.3: Global Market for Fetal Ultrasound Screenong by Geography (U.S., Europe, RoW), Through 2021
Table 9.4: Global Fetal Ultrasound Market Share by Company, 2014
Table 9.5: Global Market for MRI Prenatal Screening by Geography (U.S., Europe and RoW), Through 2021
Table 9.6: Global Market for Maternal Serum Screening Tests by Geography (U.S., Europe, RoW), Through 2021
Table 9.7: Global Market for NIPTs by Geography (North America, Europe, RoW), Through 2021
Table 9.8: Global Market for NIPTs by Product
Table 9.9: Global Market for Prenatal Invasive Diagnostic Tests by Geography (U.S., Europe, RoW), Through 2021
Table 9.10:Global Market for Newborn Screening by Technology, Through 2021
Table 9.11: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
