Global Prenatal & Newborn Genetic Testing Market Size study, by Product Type, Screening, Disease, End User, and Regional Forecasts 2022-2032
The Global Prenatal & Newborn Genetic Testing Market is valued at approximately USD 6.55 billion in 2023 and is anticipated to grow with a healthy compound annual growth rate (CAGR) of 11.04% over the forecast period from 2024 to 2032. At the forefront of precision healthcare, prenatal and newborn genetic testing has become instrumental in revolutionizing early-stage diagnostics, allowing clinicians to intervene with tailored treatments before congenital conditions fully manifest. By analyzing DNA samples from expectant mothers and newborns, this evolving discipline facilitates the early identification of genetic disorders like Down syndrome, cystic fibrosis, and sickle cell anemia. This technology not only improves clinical outcomes but also empowers parents and practitioners to make informed decisions, significantly reducing lifelong healthcare burdens. The increasing adoption of non-invasive prenatal testing (NIPT) and a growing societal emphasis on personalized medicine continue to reinforce market momentum.
The robust growth of this market is further propelled by a rising awareness of genetic disorders and the expanding utilization of genomic data in clinical care. The shift towards minimally invasive diagnostics—particularly the widespread adoption of cell-free fetal DNA screening—is dramatically reshaping prenatal care protocols. On the newborn front, advanced tests are enabling early detection of metabolic and immunological disorders, catalyzing timely interventions. Governments in both developed and emerging economies are endorsing universal newborn screening programs, further anchoring this market’s potential. Simultaneously, strategic investments in R&D are fueling breakthroughs in assay development, next-generation sequencing (NGS), and lab automation—making testing more accessible, accurate, and cost-effective.
Despite its promise, the market faces obstacles such as regulatory complexity, ethical concerns, and high initial infrastructure costs. The sensitivity of genomic data also poses privacy and data ownership concerns, particularly as AI and big data begin to intersect with clinical genetics. Nevertheless, the increasing integration of digital platforms, such as genetic counseling apps and telehealth consultations, is mitigating these challenges. These tools not only streamline data interpretation for healthcare providers but also enhance patient engagement and education—ultimately increasing testing uptake and trust.
The ongoing collaboration between academic research centers, diagnostics companies, and public health institutions is fostering a robust innovation ecosystem. This has led to the development of multiplex platforms capable of screening for multiple genetic conditions in a single assay, while simultaneously reducing time-to-results. Moreover, the growing presence of direct-to-consumer (DTC) testing brands is disrupting traditional care pathways by placing diagnostic power directly in the hands of consumers, albeit under careful regulatory watch.
Regionally, North America dominates the market, owing to its technologically advanced diagnostic infrastructure, strong reimbursement policies, and a high awareness level among the general population and medical professionals. Europe holds a substantial share, bolstered by government-supported national screening initiatives and robust healthcare policies. Meanwhile, the Asia Pacific region is witnessing the fastest growth due to a burgeoning population base, improved healthcare infrastructure, and rising investments in genomic research. Countries like China, India, and Japan are significantly enhancing their genetic screening capacities, supported by both public and private sector initiatives.
Major market players included in this report are:
By Product Type
North America
The robust growth of this market is further propelled by a rising awareness of genetic disorders and the expanding utilization of genomic data in clinical care. The shift towards minimally invasive diagnostics—particularly the widespread adoption of cell-free fetal DNA screening—is dramatically reshaping prenatal care protocols. On the newborn front, advanced tests are enabling early detection of metabolic and immunological disorders, catalyzing timely interventions. Governments in both developed and emerging economies are endorsing universal newborn screening programs, further anchoring this market’s potential. Simultaneously, strategic investments in R&D are fueling breakthroughs in assay development, next-generation sequencing (NGS), and lab automation—making testing more accessible, accurate, and cost-effective.
Despite its promise, the market faces obstacles such as regulatory complexity, ethical concerns, and high initial infrastructure costs. The sensitivity of genomic data also poses privacy and data ownership concerns, particularly as AI and big data begin to intersect with clinical genetics. Nevertheless, the increasing integration of digital platforms, such as genetic counseling apps and telehealth consultations, is mitigating these challenges. These tools not only streamline data interpretation for healthcare providers but also enhance patient engagement and education—ultimately increasing testing uptake and trust.
The ongoing collaboration between academic research centers, diagnostics companies, and public health institutions is fostering a robust innovation ecosystem. This has led to the development of multiplex platforms capable of screening for multiple genetic conditions in a single assay, while simultaneously reducing time-to-results. Moreover, the growing presence of direct-to-consumer (DTC) testing brands is disrupting traditional care pathways by placing diagnostic power directly in the hands of consumers, albeit under careful regulatory watch.
Regionally, North America dominates the market, owing to its technologically advanced diagnostic infrastructure, strong reimbursement policies, and a high awareness level among the general population and medical professionals. Europe holds a substantial share, bolstered by government-supported national screening initiatives and robust healthcare policies. Meanwhile, the Asia Pacific region is witnessing the fastest growth due to a burgeoning population base, improved healthcare infrastructure, and rising investments in genomic research. Countries like China, India, and Japan are significantly enhancing their genetic screening capacities, supported by both public and private sector initiatives.
Major market players included in this report are:
- Illumina, Inc.
- Thermo Fisher Scientific Inc.
- Agilent Technologies, Inc.
- F. Hoffmann-La Roche Ltd.
- BGI Genomics Co., Ltd.
- Eurofins Scientific
- Quest Diagnostics Incorporated
- PerkinElmer Inc.
- Natera, Inc.
- Bio-Rad Laboratories, Inc.
- Invitae Corporation
- GeneDx
- Centogene N.V.
- Myriad Genetics, Inc.
- MedGenome Labs Ltd.
By Product Type
- Consumables
- Instruments
- Non-invasive Prenatal Testing
- Chorionic Villus Sampling
- Amniocentesis
- Maternal Serum Screening
- Down Syndrome
- Phenylketonuria
- Cystic Fibrosis
- Sickle Cell Anemia
- Hospitals
- Maternity and Specialty Clinics
- Diagnostic Centers
North America
- U.S.
- Canada
- UK
- Germany
- France
- Spain
- Italy
- Rest of Europe
- China
- India
- Japan
- Australia
- South Korea
- Rest of Asia Pacific
- Brazil
- Mexico
- Saudi Arabia
- South Africa
- Rest of Middle East & Africa
- Historical year – 2022
- Base year – 2023
- Forecast period – 2024 to 2032
- Market Estimates & Forecast for 10 years from 2022 to 2032
- Annualized revenues and regional level analysis for each market segment
- Detailed analysis of geographical landscape with country-level insights
- Competitive landscape with strategic profiling of major players
- In-depth analysis of key business strategies and market recommendations
- Structural insights into demand-side and supply-side forces shaping the market
- Illumina, Inc.
- Thermo Fisher Scientific Inc.
- Agilent Technologies, Inc.
- F. Hoffmann-La Roche Ltd.
- BGI Genomics Co., Ltd.
- Eurofins Scientific
- Quest Diagnostics Incorporated
- PerkinElmer Inc.
- Natera, Inc.
- Bio-Rad Laboratories, Inc.
- Invitae Corporation
- GeneDx
- Centogene N.V.
- Myriad Genetics, Inc.
- MedGenome Labs Ltd.
CHAPTER 1. GLOBAL PRENATAL & NEWBORN GENETIC TESTING MARKET EXECUTIVE SUMMARY
1.1. Global Prenatal & Newborn Genetic Testing Market Size & Forecast (2022–2032)
1.2. Regional Summary
1.3. Segmental Summary
1.3.1. By Product Type & Screening
1.3.2. By Disease & End User
1.4. Key Trends
1.5. Recession Impact
1.6. Analyst Recommendation & Conclusion
CHAPTER 2. GLOBAL PRENATAL & NEWBORN GENETIC TESTING MARKET DEFINITION AND RESEARCH ASSUMPTIONS
2.1. Research Objective
2.2. Market Definition
2.3. Research Assumptions
2.3.1. Inclusion & Exclusion
2.3.2. Limitations
2.3.3. Supply Side Analysis
2.3.3.1. Availability
2.3.3.2. Infrastructure
2.3.3.3. Regulatory Environment
2.3.3.4. Market Competition
2.3.3.5. Economic Viability (Client Perspective)
2.3.4. Demand Side Analysis
2.3.4.1. Regulatory Frameworks
2.3.4.2. Technological Advancements
2.3.4.3. Ethical & Privacy Considerations
2.3.4.4. Patient Awareness & Acceptance
2.4. Estimation Methodology
2.5. Years Considered for the Study
2.6. Currency Conversion Rates
CHAPTER 3. GLOBAL PRENATAL & NEWBORN GENETIC TESTING MARKET DYNAMICS
3.1. Market Drivers
3.1.1. Rising Prevalence of Genetic Disorders
3.1.2. Expansion of Universal Newborn Screening Programs
3.1.3. Technological Advances in Next-Generation Sequencing
3.2. Market Challenges
3.2.1. High Infrastructure and Per-Test Costs
3.2.2. Stringent Regulatory & Reimbursement Frameworks
3.2.3. Data Privacy and Ethical Concerns
3.3. Market Opportunities
3.3.1. Multiplex and Point-of-Care Assay Development
3.3.2. Emerging Markets with Growing Healthcare Spending
3.3.3. Integration of AI/ML for Predictive Analytics
CHAPTER 4. GLOBAL PRENATAL & NEWBORN GENETIC TESTING MARKET INDUSTRY ANALYSIS
4.1. Porter’s Five Forces Model
4.1.1. Bargaining Power of Suppliers
4.1.2. Bargaining Power of Buyers
4.1.3. Threat of New Entrants
4.1.4. Threat of Substitutes
4.1.5. Competitive Rivalry
4.1.6. Futuristic Approach to Porter’s Model
4.1.7. Impact Analysis
4.2. PESTEL Analysis
4.2.1. Political
4.2.2. Economic
4.2.3. Social
4.2.4. Technological
4.2.5. Environmental
4.2.6. Legal
4.3. Top Investment Opportunity
4.4. Top Winning Strategies
4.5. Disruptive Trends
4.6. Industry Expert Perspective
4.7. Analyst Recommendation & Conclusion
CHAPTER 5. GLOBAL PRENATAL & NEWBORN GENETIC TESTING MARKET SIZE & FORECASTS BY PRODUCT TYPE & SCREENING (2022–2032)
5.1. Segment Dashboard
5.2. By Product Type
5.2.1. Consumables
5.2.2. Instruments
5.3. By Screening
5.3.1. Non-invasive Prenatal Testing
5.3.2. Chorionic Villus Sampling
5.3.3. Amniocentesis
5.3.4. Maternal Serum Screening
CHAPTER 6. GLOBAL PRENATAL & NEWBORN GENETIC TESTING MARKET SIZE & FORECASTS BY DISEASE & END USER (2022–2032)
6.1. Segment Dashboard
6.2. By Disease
6.2.1. Down Syndrome
6.2.2. Phenylketonuria
6.2.3. Cystic Fibrosis
6.2.4. Sickle Cell Anemia
6.3. By End User
6.3.1. Hospitals
6.3.2. Maternity and Specialty Clinics
6.3.3. Diagnostic Centers
CHAPTER 7. GLOBAL PRENATAL & NEWBORN GENETIC TESTING MARKET SIZE & FORECASTS BY REGION (2022–2032)
7.1. North America Market
7.1.1. U.S. Market
7.1.1.1. By Product & Screening, 2022–2032
7.1.1.2. By Disease & End User, 2022–2032
7.1.2. Canada Market
7.2. Europe Market
7.2.1. UK Market
7.2.2. Germany Market
7.2.3. France Market
7.2.4. Spain Market
7.2.5. Italy Market
7.2.6. Rest of Europe Market
7.3. Asia Pacific Market
7.3.1. China Market
7.3.2. India Market
7.3.3. Japan Market
7.3.4. Australia Market
7.3.5. South Korea Market
7.3.6. Rest of Asia Pacific Market
7.4. Latin America Market
7.4.1. Brazil Market
7.4.2. Mexico Market
7.4.3. Rest of Latin America Market
7.5. Middle East & Africa Market
7.5.1. Saudi Arabia Market
7.5.2. South Africa Market
7.5.3. Rest of Middle East & Africa Market
CHAPTER 8. COMPETITIVE INTELLIGENCE
8.1. Key Company SWOT Analysis
8.1.1. Illumina, Inc.
8.1.2. Thermo Fisher Scientific Inc.
8.1.3. F. Hoffmann-La Roche Ltd.
8.2. Top Market Strategies
8.3. Company Profiles
8.3.1. Illumina, Inc.
8.3.1.1. Key Information
8.3.1.2. Overview
8.3.1.3. Financial (Subject to Data Availability)
8.3.1.4. Product Summary
8.3.1.5. Market Strategies
8.3.2. Thermo Fisher Scientific Inc.
8.3.3. F. Hoffmann-La Roche Ltd.
8.3.4. Agilent Technologies, Inc.
8.3.5. BGI Genomics Co., Ltd.
8.3.6. Eurofins Scientific
8.3.7. Quest Diagnostics Incorporated
8.3.8. PerkinElmer Inc.
8.3.9. Natera, Inc.
8.3.10. Bio-Rad Laboratories, Inc.
8.3.11. Invitae Corporation
8.3.12. GeneDx
8.3.13. Centogene N.V.
8.3.14. Myriad Genetics, Inc.
8.3.15. MedGenome Labs Ltd.
CHAPTER 9. RESEARCH PROCESS
9.1. Research Process
9.1.1. Data Mining
9.1.2. Analysis
9.1.3. Market Estimation
9.1.4. Validation
9.1.5. Publishing
9.2. Research Attributes
1.1. Global Prenatal & Newborn Genetic Testing Market Size & Forecast (2022–2032)
1.2. Regional Summary
1.3. Segmental Summary
1.3.1. By Product Type & Screening
1.3.2. By Disease & End User
1.4. Key Trends
1.5. Recession Impact
1.6. Analyst Recommendation & Conclusion
CHAPTER 2. GLOBAL PRENATAL & NEWBORN GENETIC TESTING MARKET DEFINITION AND RESEARCH ASSUMPTIONS
2.1. Research Objective
2.2. Market Definition
2.3. Research Assumptions
2.3.1. Inclusion & Exclusion
2.3.2. Limitations
2.3.3. Supply Side Analysis
2.3.3.1. Availability
2.3.3.2. Infrastructure
2.3.3.3. Regulatory Environment
2.3.3.4. Market Competition
2.3.3.5. Economic Viability (Client Perspective)
2.3.4. Demand Side Analysis
2.3.4.1. Regulatory Frameworks
2.3.4.2. Technological Advancements
2.3.4.3. Ethical & Privacy Considerations
2.3.4.4. Patient Awareness & Acceptance
2.4. Estimation Methodology
2.5. Years Considered for the Study
2.6. Currency Conversion Rates
CHAPTER 3. GLOBAL PRENATAL & NEWBORN GENETIC TESTING MARKET DYNAMICS
3.1. Market Drivers
3.1.1. Rising Prevalence of Genetic Disorders
3.1.2. Expansion of Universal Newborn Screening Programs
3.1.3. Technological Advances in Next-Generation Sequencing
3.2. Market Challenges
3.2.1. High Infrastructure and Per-Test Costs
3.2.2. Stringent Regulatory & Reimbursement Frameworks
3.2.3. Data Privacy and Ethical Concerns
3.3. Market Opportunities
3.3.1. Multiplex and Point-of-Care Assay Development
3.3.2. Emerging Markets with Growing Healthcare Spending
3.3.3. Integration of AI/ML for Predictive Analytics
CHAPTER 4. GLOBAL PRENATAL & NEWBORN GENETIC TESTING MARKET INDUSTRY ANALYSIS
4.1. Porter’s Five Forces Model
4.1.1. Bargaining Power of Suppliers
4.1.2. Bargaining Power of Buyers
4.1.3. Threat of New Entrants
4.1.4. Threat of Substitutes
4.1.5. Competitive Rivalry
4.1.6. Futuristic Approach to Porter’s Model
4.1.7. Impact Analysis
4.2. PESTEL Analysis
4.2.1. Political
4.2.2. Economic
4.2.3. Social
4.2.4. Technological
4.2.5. Environmental
4.2.6. Legal
4.3. Top Investment Opportunity
4.4. Top Winning Strategies
4.5. Disruptive Trends
4.6. Industry Expert Perspective
4.7. Analyst Recommendation & Conclusion
CHAPTER 5. GLOBAL PRENATAL & NEWBORN GENETIC TESTING MARKET SIZE & FORECASTS BY PRODUCT TYPE & SCREENING (2022–2032)
5.1. Segment Dashboard
5.2. By Product Type
5.2.1. Consumables
5.2.2. Instruments
5.3. By Screening
5.3.1. Non-invasive Prenatal Testing
5.3.2. Chorionic Villus Sampling
5.3.3. Amniocentesis
5.3.4. Maternal Serum Screening
CHAPTER 6. GLOBAL PRENATAL & NEWBORN GENETIC TESTING MARKET SIZE & FORECASTS BY DISEASE & END USER (2022–2032)
6.1. Segment Dashboard
6.2. By Disease
6.2.1. Down Syndrome
6.2.2. Phenylketonuria
6.2.3. Cystic Fibrosis
6.2.4. Sickle Cell Anemia
6.3. By End User
6.3.1. Hospitals
6.3.2. Maternity and Specialty Clinics
6.3.3. Diagnostic Centers
CHAPTER 7. GLOBAL PRENATAL & NEWBORN GENETIC TESTING MARKET SIZE & FORECASTS BY REGION (2022–2032)
7.1. North America Market
7.1.1. U.S. Market
7.1.1.1. By Product & Screening, 2022–2032
7.1.1.2. By Disease & End User, 2022–2032
7.1.2. Canada Market
7.2. Europe Market
7.2.1. UK Market
7.2.2. Germany Market
7.2.3. France Market
7.2.4. Spain Market
7.2.5. Italy Market
7.2.6. Rest of Europe Market
7.3. Asia Pacific Market
7.3.1. China Market
7.3.2. India Market
7.3.3. Japan Market
7.3.4. Australia Market
7.3.5. South Korea Market
7.3.6. Rest of Asia Pacific Market
7.4. Latin America Market
7.4.1. Brazil Market
7.4.2. Mexico Market
7.4.3. Rest of Latin America Market
7.5. Middle East & Africa Market
7.5.1. Saudi Arabia Market
7.5.2. South Africa Market
7.5.3. Rest of Middle East & Africa Market
CHAPTER 8. COMPETITIVE INTELLIGENCE
8.1. Key Company SWOT Analysis
8.1.1. Illumina, Inc.
8.1.2. Thermo Fisher Scientific Inc.
8.1.3. F. Hoffmann-La Roche Ltd.
8.2. Top Market Strategies
8.3. Company Profiles
8.3.1. Illumina, Inc.
8.3.1.1. Key Information
8.3.1.2. Overview
8.3.1.3. Financial (Subject to Data Availability)
8.3.1.4. Product Summary
8.3.1.5. Market Strategies
8.3.2. Thermo Fisher Scientific Inc.
8.3.3. F. Hoffmann-La Roche Ltd.
8.3.4. Agilent Technologies, Inc.
8.3.5. BGI Genomics Co., Ltd.
8.3.6. Eurofins Scientific
8.3.7. Quest Diagnostics Incorporated
8.3.8. PerkinElmer Inc.
8.3.9. Natera, Inc.
8.3.10. Bio-Rad Laboratories, Inc.
8.3.11. Invitae Corporation
8.3.12. GeneDx
8.3.13. Centogene N.V.
8.3.14. Myriad Genetics, Inc.
8.3.15. MedGenome Labs Ltd.
CHAPTER 9. RESEARCH PROCESS
9.1. Research Process
9.1.1. Data Mining
9.1.2. Analysis
9.1.3. Market Estimation
9.1.4. Validation
9.1.5. Publishing
9.2. Research Attributes
LIST OF TABLES
TABLE 1. Global Prenatal & Newborn Genetic Testing market, report scope
TABLE 2. Market estimates & forecasts by Region 2022–2032 (USD Billion)
TABLE 3. Market estimates & forecasts by Product Type & Screening 2022–2032 (USD Billion)
TABLE 4. Market estimates & forecasts by Disease & End User 2022–2032 (USD Billion)
TABLE 5. Market by segment & region, estimates & forecasts 2022–2032 (USD Billion)
TABLE 6. North America market estimates & forecasts 2022–2032 (USD Billion)
TABLE 7. U.S. market estimates & forecasts by segment 2022–2032 (USD Billion)
TABLE 8. Canada market estimates & forecasts by segment 2022–2032 (USD Billion)
TABLE 9. Europe market estimates & forecasts 2022–2032 (USD Billion)
TABLE 10. UK market estimates & forecasts 2022–2032 (USD Billion)
TABLE 11. Asia Pacific market estimates & forecasts 2022–2032 (USD Billion)
TABLE 12. China market estimates & forecasts 2022–2032 (USD Billion)
TABLE 13. Latin America market estimates & forecasts 2022–2032 (USD Billion)
TABLE 14. Middle East & Africa market estimates & forecasts 2022–2032 (USD Billion)
TABLE 15. Key company financials and market shares (2023)
… (report contains 100+ tables; list to be updated in final deliverable)
TABLE 1. Global Prenatal & Newborn Genetic Testing market, report scope
TABLE 2. Market estimates & forecasts by Region 2022–2032 (USD Billion)
TABLE 3. Market estimates & forecasts by Product Type & Screening 2022–2032 (USD Billion)
TABLE 4. Market estimates & forecasts by Disease & End User 2022–2032 (USD Billion)
TABLE 5. Market by segment & region, estimates & forecasts 2022–2032 (USD Billion)
TABLE 6. North America market estimates & forecasts 2022–2032 (USD Billion)
TABLE 7. U.S. market estimates & forecasts by segment 2022–2032 (USD Billion)
TABLE 8. Canada market estimates & forecasts by segment 2022–2032 (USD Billion)
TABLE 9. Europe market estimates & forecasts 2022–2032 (USD Billion)
TABLE 10. UK market estimates & forecasts 2022–2032 (USD Billion)
TABLE 11. Asia Pacific market estimates & forecasts 2022–2032 (USD Billion)
TABLE 12. China market estimates & forecasts 2022–2032 (USD Billion)
TABLE 13. Latin America market estimates & forecasts 2022–2032 (USD Billion)
TABLE 14. Middle East & Africa market estimates & forecasts 2022–2032 (USD Billion)
TABLE 15. Key company financials and market shares (2023)
… (report contains 100+ tables; list to be updated in final deliverable)
LIST OF FIGURES
FIG 1. Global market, research methodology
FIG 2. Market estimation techniques
FIG 3. Global market size estimates & forecast methods
FIG 4. Global market, key trends 2023
FIG 5. Global market, growth prospects 2022–2032
FIG 6. Global market, Porter’s Five Forces model
FIG 7. Global market, PESTEL analysis
FIG 8. Global market, value chain analysis
FIG 9. By Product Type & Screening, 2022 & 2032 (USD Billion)
FIG 10. By Disease & End User, 2022 & 2032 (USD Billion)
FIG 11. Regional snapshot 2022 & 2032 (USD Billion)
FIG 12. North America market 2022 & 2032 (USD Billion)
FIG 13. Europe market 2022 & 2032 (USD Billion)
FIG 14. Asia Pacific market 2022 & 2032 (USD Billion)
FIG 15. Latin America market 2022 & 2032 (USD Billion)
FIG 16. Middle East & Africa market 2022 & 2032 (USD Billion)
FIG 17. Company market share analysis (2023)
… (report contains 50+ figures; list to be updated in final deliverable)
FIG 1. Global market, research methodology
FIG 2. Market estimation techniques
FIG 3. Global market size estimates & forecast methods
FIG 4. Global market, key trends 2023
FIG 5. Global market, growth prospects 2022–2032
FIG 6. Global market, Porter’s Five Forces model
FIG 7. Global market, PESTEL analysis
FIG 8. Global market, value chain analysis
FIG 9. By Product Type & Screening, 2022 & 2032 (USD Billion)
FIG 10. By Disease & End User, 2022 & 2032 (USD Billion)
FIG 11. Regional snapshot 2022 & 2032 (USD Billion)
FIG 12. North America market 2022 & 2032 (USD Billion)
FIG 13. Europe market 2022 & 2032 (USD Billion)
FIG 14. Asia Pacific market 2022 & 2032 (USD Billion)
FIG 15. Latin America market 2022 & 2032 (USD Billion)
FIG 16. Middle East & Africa market 2022 & 2032 (USD Billion)
FIG 17. Company market share analysis (2023)
… (report contains 50+ figures; list to be updated in final deliverable)
