Prenatal Genetic Testing Market Size, Share, Trends and Forecast Analysis (2025-2032)

Global Prenatal Genetic Testing Market size was valued at USD 12.81 Bn. in 2024, and the total Prenatal Genetic Testing Market revenue is expected to grow by 6.1% from 2025 to 2032, reaching nearly USD 20.57 Bn.
Prenatal Genetic Testing Market Overview:
Prenatal genetic testing detects genetic abnormalities in the fetus and offers information regarding how inherited disorders and chromosomal abnormalities, such as Down Syndrome or Trisomy 18 and 13, can be characterized. Testing is provided for facilitating more timely and medically informed care in all hospitals, diagnostics labs, and fertility centres. Factors, such as the trend of childbearing at increased maternal age, greater informedness amongst expecting parents, and advancing non-invasive testing technologies, are all contributing to the increased demand for prenatal testing, companies such as Natera and Illumina have made available excellent accuracy, non-invasive prenatal testing (NIPT) platforms that leverage cell-free fetal DNA from maternal blood to provide estimates of risk for potential disorders while maintaining the fetus's safety. Demand for testing, in particular, continues to emanate from the biggest markets located primarily in North America and Asia Pacific, due to continued adoption of assisted reproductive technologies (ART), ever-improving access to healthcare infrastructure in target regions, and increasingly permissive insurance coverage for genetic testing.

Illumina, Thermo Fisher Scientific, Natera, Eurofins Scientific, and BGI Genomics are major contributors to the global prenatal genetic testing market, offering technologies from next-generation sequencing (NGS) to microarrays and biochemical screening platforms. The companies are investing intently in AI-based genetic analytics, improving test sensitivity features for rare disorders, and increasing access in underserved regions through population-specific panels. Positive tailwinds from regulatory support, such as insurance reimbursement in the U.S. and public screening in countries like Japan and China, are expected to enhance the global prenatal genetic testing market.

The Prenatal Genetic Testing Report also covered segment-wise analysis by test type, technology, end users, and regions; recent developments from leading companies; competitive analysis; market share (2024); and emerging trends, including increased adoption of AI, expanded carrier screening, and regional genomics adaptation, giving a holistic analysis of the global prenatal genetic testing ecosystem.To know about the Research Methodology :- Request Free Sample Report
Global Prenatal Genetic Testing Market Dynamics:
Rising Maternal Age to Drive Prenatal Genetic Testing Market Growth

Advanced maternal age refers to a pregnancy in which the individual giving birth is older than 35 years. Pregnant individuals in this age group face a higher risk of complications such as miscarriage, congenital disorders, and high blood pressure. Screening tests play a crucial role in detecting specific congenital disorders. This is increasing the demand for tests, which is contributing to the Prenatal Genetic Testing Market growth. While genetic screening tests are recommended for all pregnancies, they become particularly significant for individuals of advanced maternal age. These noninvasive screenings, conducted through blood tests or ultrasound, are optional and can identify if the baby is at a heightened risk for certain congenital conditions.

It's important to note that these tests are screenings, indicating they detect the possibility of a genetic condition. In cases where a screening test indicates a potential issue, invasive genetic testing methods may be employed. Chorionic villus sampling (CVS) is one such method, using cells from the placenta to diagnose genetic conditions. Amniocentesis is another invasive testing procedure, involving the insertion of a needle through the abdomen to extract amniotic fluid from the uterus. This fluid analysis aids in diagnosing certain genetic conditions.

Technological Advancement to Create Prenatal Genetic Testing Market Opportunity

The utilization of Next Generation Sequencing (NGS)-based methods has been predominant, but ongoing technological advancements, including qPCR, dPCR, and amplification technologies, aim to improve test quality and reduce costs. The commercial sector is expanding its focus to encompass sex chromosome aneuploidies, rare autosomal trisomies, and sub-microscopic copy-number variants. Automated in-lab workflows and remote patient monitoring during pregnancy are empowering providers to effectively manage pregnancies and associated risks.

A new generation of screening tests is emerging, promising to enhance pregnancy management by offering real-time information about placental development through trophoblast cells. This indicates a shift towards targeted management of pregnancies at risk, which is expected to drive the Prenatal Genetic Testing Market in the future. As technology evolves, discussions about expanding Non-Invasive Prenatal Testing (NIPT) beyond chromosomal abnormalities are expected to intensify. Therefore, the involvement of private clinics and biomedical professionals is crucial for facilitating access, particularly in underpenetrated regions. Validation studies serve as a central strategy to attract customers.

While establishing clear guidelines and services to address potential medical and ethical issues is imperative for the responsible future use of NIPT, leveraging complementary informatics technologies to enhance data analysis and reporting capabilities will be vital for expediting new product development. Additionally, expanding the core intellectual property portfolio and refining sample preparation technology are essential aspects of staying at the forefront of NIPT advancements.

Legal and Regulatory Frameworks to Create Prenatal Genetic Testing Market Challenge

Prenatal genetic testing is subject to many legal and regulatory frameworks across the world. Harmonizing these regulations to ensure ethical standards, patient privacy, and consistent practices poses a challenge for the Global Prenatal Genetic Testing Market. For example, the Centers for Medicare and Medicaid Services (CMS) enforces regulations to govern the analytical validity of clinical genetic tests, while federal oversight of the clinical validity of most genetic tests is currently absent. Recognizing this gap, the FDA has put forth new policies aimed at strengthening the regulation of analytical validity and broadening oversight to encompass the clinical validity of genetic tests.

CMS oversees clinical laboratories, including those engaged in clinical genetic testing, through the Clinical Laboratory Improvement Amendments (CLIA) program. Enacted in 1988, CLIA mandates a certification process that laboratories must undergo to lawfully perform clinical testing. The primary goal of CLIA is to assess and ensure the quality of clinical testing, encompassing the validation of procedures and the qualifications of the technicians administering the tests. Additionally, the program includes proficiency testing for certain types of tests.
Global Prenatal Genetic Testing Market Segment Analysis
Based on Tests, the market is segmented into Diagnostic Tests (sub-segments: Amniocentesis, Chorion villus biopsy, Ultrasonography, and Maternal serum markers) and Screening Tests (sub-segments: Carrier Screening, Sequential Screening, and Maternal Serum Quad Screening). The Diagnostic Tests segment is expected to grow at a high rate during the forecast period, and among which the Non-invasive prenatal testing (NIPT) held the largest share. This is attributed to NIPT's non-invasive nature, lower risk, and wider range of conditions, which is contributing to its dominant share. The Screening Tests segment held the largest Prenatal Genetic Testing Market share in 2024, among which, the Carrier Screening segment held the largest share. It is attributed to its ability to identify potential genetic disease carriers before conception or early in pregnancy, promoting informed reproductive choices. This majorly contributes to its market lead.

Based on End Users, the Prenatal Genetic Testing Market is segmented into Hospitals, Specialty clinics and Diagnostic centers. Hospitals sement dominated the prenatal genetic testing market in 2024 and is expected to hold largest market share over forecast period. Hospitals commonly have a considerable share of the market because they are full-service providers for prenatal care that offer both screening and diagnostic options in one place. Most hospitals can maintain high-end technology, as well as have genetic counselors and specialists, making them the preeminent and safest choice for high-risk pregnancy management. Hospitals represent the easiest and most likely choice for patients (compared to private medical clinics or practitioners) because many hospitals offer broader insurance coverage and are often paid through public health programs. Hospitals are also capable of handling the greater volumes of patients and incidents as needed. Collectively, these elements have a strong likelihood of positioning hospitals as the preferred primary provider for prenatal genetic testing.
Prenatal Genetic Testing Market Regional Insights
North American Prenatal Genetic Testing Market dominated the global market with the largest share in 2024. This is attributed to the high research and development in the healthcare sector. The increase in incidence of all hypertensive disorders of pregnancy is the driving factor for global prenatal genetic testing in North America. Prenatal genetic screenings are generally done in the countries of North America for patients who would benefit from genetic counselling. Doctors and clinicians recommend prenatal genetic testing as a precaution to avoid unnecessary health risks to both mother and fetus.

Asia Pacific Prenatal Genetic Testing Market is expected to grow at a high rate during the forecast period. This is attributed to the increasing disposable income, rising awareness of genetic disorders, and expanding healthcare facilities. Several countries in the region have initiated government-supported programs to promote prenatal care and genetic screening. These initiatives aim to improve awareness, accessibility, and affordability of prenatal genetic testing services. In the region, China is the largest market for Prenatal Genetic Testing. The country is experiencing a growth in prenatal genetic testing, which is driven by a growing middle class, advanced healthcare infrastructure, and rising awareness.

Prenatal Genetic Testing Market Competitive Landscape

The Prenatal Genetic Testing Market is competitive, driven by leaders in life sciences worldwide who drive innovation in sequencing, diagnostics, and personalized medicine. Leading competitors such as Illumina, Inc. and Thermo Fisher Scientific invest in developing advanced genomic platforms, assays, and diagnostics that hospitals, fertility clinics, and diagnostic labs can use to detect chromosomal abnormalities and inherited disorders. Illumina, Inc. (USA), has revenue of USD XX billion in 2024, remaining its focus on high-throughput sequencing platforms for non-invasive prenatal testing (NIPT) after divesting Grail. Illumina remains a market leader for consumables and the adoption of NGS systems around the world. Thermo Fisher Scientific (USA), with total revenue of USD XX billion in 2024, related to USD XX billion from their Life Sciences segment, which includes prenatal microarrays, cytogenetics tools, and PCR systems, and registered 3% year-on-year growth. Both companies are investing in AI-driven analytics, high-sensitivity platforms, and decentralized testing capabilities to meet demand and improve diagnostic accuracy, especially in emerging markets and high-risk maternal populations.

Prenatal Genetic Testing Market Recent Development

• In June 2024, Illumina, Inc. (USA/Global) announced the successful completion of the spin-off of Grail. In a transaction that resulted in Grail becoming an independent publicly traded company on the Nasdaq, Illumina retained the 14.5% equity invested in Grail. This spin-off was done to realign Illumina's core business of developing next-generational sequencing (NGS) platforms, especially NIPT applications it had developed to transform prenatal screening tests, and support R&D's efforts to improve the sensitivity and throughput of screening for prenatal tests.

• In December 2024, Thermo Fisher Scientific (USA) announced significant enhancements to their prenatal cytogenomics portfolio, providing a more powerful combination of high-density microarray assays and digital data processing to improve the detection of subchromosomal abnormalities. Thermo Fisher's PathVisio Prenatal Array was upgraded to allow the speed and depth of diagnostic results in the range of amniocentesis and chorionic villus sampling workflows.

• In August-September 2024, Eurofins Scientific (Luxembourg) made two important acquisitions to enhance its genetics portfolio: Orchid Cellmark in the UK and Infinity Laboratories in the US, both having robust NIPT and carrier screening capabilities, creating a global prenatal testing platform across North America and Europe.

• In May 2025, Natera (USA) introduced its AI-enhanced roadmap for the Panorama NIPT platform, improving detection of rare genetic disorders (e.g., 22q11.2 deletion) by 53% and reducing no-call rates by 50%, with a focus on increased access to rural areas via telehealth.

• Strand Life Sciences (India) launched CNSeq (chromosomal screening) and MaatriSeq NIPS portfolio in April 2024, both thoughtfully validated on Indian populations and optimizing the Illumina NovaSeq X Plus platforms, achieving a level of accuracy and scalability for prenatal genomic testing in emerging APAC markets.

Prenatal Genetic Testing Market Recent Trends



Category
Key Trend
Example Product
Market Impact


Non-Invasive Testing
Rapid adoption of NIPT due to safety, early detection, and accuracy
Natera Panorama, Illumina VeriSeq NIPT
Increased NIPT adoption contributed to over 55% market share in 2024; enhanced uptake among women over 35.


AI & Genomics
Integration of AI in genomic analysis for rare disorder prediction and low no-call rates
Natera AI-Powered Panorama Platform
Boosted detection rates for microdeletions by 50%, while reducing no-call rates by half


Carrier Screening
Carrier screening expanding to include multi-gene panels and recessive disease profiling
Invitae Carrier Panel, Eurofins Expanded Panel
Led to a 30% increase in preconception testing, particularly among IVF and high-risk couples.



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Prenatal Genetic Testing Market


Report Coverage
Details


Base Year:
2024
Forecast Period:
2025-2032


Historical Data:
2019 to 2024
Market Size in 2024:
USD 12.81 Bn.


Forecast Period 2025 to 2032 CAGR:
6.1%
Market Size in 2032:
USD 20.57 Bn.


 Segments Covered:
by Tests
Diagnostic Tests
Screening Tests


by End Users
Hospitals
Specialty clinics
Diagnostic centers


by Technology
Non-Invasive Prenatal Testing
Invasive Testing Technology
Biochemical Screening



Prenatal Genetic Testing Market by Region
North America (United States, Canada, and Mexico)
Europe (UK, France, Germany, Italy, Spain, Sweden, Austria, and the Rest of Europe)
Asia Pacific (China, South Korea, Japan, India, Australia, ASEAN, and the Rest of APAC)
Middle East & Africa (South Africa, GCC, Nigeria, Rest of ME&A)
South America (Brazil, Argentina, Rest of South America)
Prenatal Genetic Testing Market Key Players
North America

1. Bio-Rad Laboratories Inc. [USA]
2. Agilent Technologies Inc. [USA]
3. Illumina Inc. [USA]
4. Natera Inc. [USA]
5. Myriad Genetics Inc. [USA]
6. PreventionGenetics [USA]
7. Abbott Laboratories [USA]
8. Thermo Fisher Scientific [USA]
9. QIAGEN [USA]

Europe

1. Roche Holding AG [Switzerland]
2. Eurofins Scientific [Luxembourg]
3. Premaitha Health plc [United Kingdom]

Asia Pacific

1. Strand Life Sciences [Bangalore, India]
Frequently Asked Questions:
1. Which region has the largest share in the Global Prenatal Genetic Testing Market?
Ans: The North America region held the highest share in 2024.

2. What is the growth rate of the Global Prenatal Genetic Testing Market?
Ans: The Global Market is expected to grow at a CAGR of 6.1% during the forecast period 2025-2032.

3. What is the scope of the Global Prenatal Genetic Testing Market report?
Ans: The Global Prenatal Genetic Testing Market report helps with the PESTEL, Porter's, Recommendations for Investors and leaders, and market estimation for the forecast period.

4. Who are the key players in the Global Prenatal Genetic Testing Market?
Ans: The important key players in the Global Prenatal Genetic Testing Market are – Bio-Rad Laboratories Inc. [USA], Agilent Technologies Inc. [USA], Illumina Inc. [USA], Natera Inc. [USA], Myriad Genetics Inc. [USA], etc.

5. What is the study period of this market?
Ans: The Global Prenatal Genetic Testing Market is studied from 2024 to 2032.