Prenatal DNA Sequencing Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, Segmented By Type (Genetic Diseases, Nonhereditary Diseases), By Application (Hemophilia, Down Syndrome, Cystic Fibrosis, Autism, Others), By End user (Hospitals And Clinics, Pharmaceutical And Biotechnology Companies, Others), By Region and Competition 2021-2031F

Forecast Period	2027-2031
Market Size (2025)	USD 2.61 Billion
CAGR (2026-2031)	6.88%
Fastest Growing Segment	Genetic Diseases
Largest Market	North America
Market Size (2031)	USD 3.89 Billion

Market Overview

The Global Prenatal DNA Sequencing Market will grow from USD 2.61 Billion in 2025 to USD 3.89 Billion by 2031 at a 6.88% CAGR. Prenatal DNA sequencing involves the analysis of fetal genetic material, typically derived from cell-free DNA in maternal blood, to screen for chromosomal aneuploidies and specific genetic disorders during pregnancy. The market is primarily supported by the growing clinical preference for non-invasive testing options that mitigate the miscarriage risks associated with traditional invasive procedures like amniocentesis. Furthermore, the global rise in average maternal age has intensified the demand for highly accurate genetic evaluations to manage pregnancy risks effectively. Demonstrating the clinical utility that drives this demand, according to the International Society for Prenatal Diagnosis, in 2024, the overall diagnostic yield of prenatal exome sequencing for unselected pregnancies with sonographically detected fetal anomalies was 31 percent.

A significant challenge impeding broader market expansion is the high cost of advanced sequencing tests coupled with inconsistent reimbursement coverage from payers. Many healthcare systems and insurance providers restrict full coverage to high-risk pregnancies, creating a financial barrier that limits the adoption of these genomic technologies among the general low-risk population.

Key Market Drivers

Rapid Adoption of Non-Invasive Prenatal Testing (NIPT) Over Invasive Methods
The rapid adoption of Non-Invasive Prenatal Testing (NIPT) over traditional invasive methods is significantly expanding the market, driven by a clinical preference for safer, highly accurate screening options. Expectant parents and healthcare providers are increasingly prioritizing cell-free DNA analysis to mitigate the procedural risks associated with amniocentesis and chorionic villus sampling. This trend toward non-invasive solutions is evident in the robust test volume growth reported by leading diagnostic laboratories. For instance, according to Natera, May 2025, in the 'First Quarter 2025 Financial Results', the company processed approximately 855,100 tests during the quarter, representing a 16.2 percent increase compared to the same period in the prior year. Such adoption rates underscore the transition of NIPT from a niche high-risk offering to a mainstream standard of care.

Technological Advancements in Next-Generation Sequencing (NGS) and Bioinformatics
Technological advancements in Next-Generation Sequencing (NGS) and bioinformatics are further accelerating market growth by enabling earlier and more comprehensive fetal assessments. Innovations such as single-molecule counting and expanded carrier screening panels are enhancing test sensitivity, thereby broadening the clinical utility of prenatal diagnostics and fostering greater physician confidence. According to Myriad Genetics, May 2025, in the 'First Quarter 2025 Financial Results', prenatal testing revenue grew 11 percent year-over-year, driven in part by the positive early adoption of the Prequel Early Gestational Age test. The immense value placed on these advanced technologies is also reflected in significant sector investment. Notably, according to BillionToOne, November 2025, the company completed its initial public offering raising approximately 273 million dollars, validating the strong market appetite for next-generation molecular diagnostic platforms.

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Key Market Challenges

The high cost of advanced sequencing tests, compounded by inconsistent reimbursement coverage, stands as a primary obstruction to the growth of the Global Prenatal DNA Sequencing Market. Although clinical preference is shifting toward non-invasive methods, the prohibitive price point creates a significant barrier to entry for the general low-risk population. Insurance providers and national health systems frequently view these advanced genomic evaluations as medically necessary only for high-risk pregnancies, leaving a large segment of the market with high out-of-pocket expenses. This financial friction prevents the technology from transitioning from a niche diagnostic tool to a routine standard of care, thereby severely limiting test volume and revenue potential.

Illustrating the severity of these coverage gaps, according to the Coalition for Access to Prenatal Screening, in March 2024, four separate state Medicaid programs in the United States still provided zero reimbursement for non-invasive prenatal screening for any pregnant individuals, regardless of their medical risk profile. Such fragmented payer policies force genomic companies to operate within a constrained addressable market, directly hampering their ability to scale operations and driving the sustained stagnation of market adoption rates.

Key Market Trends

The expansion of Non-Invasive Prenatal Testing (NIPT) to include microdeletions and monogenic disorders represents a fundamental market shift. Beyond standard aneuploidy screening, demand is surging for single-gene testing that detects conditions like cystic fibrosis and spinal muscular atrophy directly from maternal blood, mitigating the need for invasive confirmations. This transition reflects a growing clinical preference for comprehensive, risk-free fetal assessments. Validating this commercial momentum, according to BillionToOne, January 2025, in the 'BillionToOne Reports Over 100% Growth in Revenue Year-Over-Year' press release, the company's revenue reached 153 million dollars in 2024, driven primarily by its single-gene prenatal testing business which captured an estimated 15 percent U.S. market share.

Concurrently, the adoption of third-generation long-read sequencing for structural variant detection is transforming diagnostics for fetal anomalies. Unlike short-read technologies, long-read platforms sequence continuous DNA fragments, enabling the precise identification of complex structural variations and repeat expansions that short-read technologies often miss. This capability is rapidly migrating from research to clinical workflows to improve diagnostic yields for pregnancies with ultrasound abnormalities. Illustrating this trend, according to Oxford Nanopore Technologies, September 2025, in the 'Interim results for the six months ended 30 June 2025', revenue from the Clinical market segment grew by 52.9 percent, highlighting the increasing utility of nanopore-based sequencing in applied diagnostics.

Segmental Insights

The genetic diseases category has emerged as the fastest-growing segment in the global prenatal DNA sequencing market. This rapid expansion is largely driven by the rising prevalence of chromosomal abnormalities and an increase in average maternal age, which heightens the risk of fetal genetic conditions. Additionally, the American College of Obstetricians and Gynecologists has endorsed broader screening protocols, encouraging the use of DNA sequencing for early detection in all pregnancies. These factors have collectively accelerated the adoption of non-invasive testing methods by healthcare professionals seeking accurate diagnostic solutions.

Regional Insights

North America holds the leading position in the global prenatal DNA sequencing market, driven by a well-established healthcare infrastructure and the concentration of major biotechnology firms in the region. The market expansion is significantly supported by guidelines from the American College of Obstetricians and Gynecologists, which recommend offering non-invasive prenatal screening to all pregnant individuals regardless of risk status. Furthermore, comprehensive reimbursement coverage provided by major private insurance payers and government programs enhances test accessibility. These factors combined with high patient awareness ensure the region remains the primary revenue generator globally.

Recent Developments

• In November 2024, Myriad Genetics announced that its Prequel Prenatal Screen is now available for use as early as eight weeks into pregnancy. The company achieved this milestone by utilizing its proprietary AMPLIFY technology, which increases the level of fetal cell-free DNA available for analysis. This advancement allows healthcare providers to offer patients valuable genetic insights into fetal development and potential chromosomal conditions sooner than the standard timeframe. The expanded availability is intended to support informed decision-making and early pregnancy management for expectant parents, distinguishing the product in the competitive prenatal testing market.
• In September 2024, PacBio launched the HiFi Solves Sub-fertility Consortium, a strategic collaboration with the KK Women’s and Children’s Hospital in Singapore and other research centers in the Asia-Pacific region. This initiative aims to utilize PacBio’s HiFi long-read sequencing technology to investigate the genetic causes of sub-fertility and recurrent pregnancy loss. By leveraging the high-resolution capabilities of HiFi sequencing, the consortium seeks to identify complex chromosomal rearrangements and structural variants that traditional methods often miss. The collaboration intends to improve diagnostic rates and inform better treatment strategies for couples facing reproductive challenges and pregnancy loss.
• In April 2024, Eurofins Genoma published a study in the journal Prenatal Diagnosis detailing the performance and clinical utility of its Genome-Wide Non-Invasive Prenatal Test (GW-NIPT). The research analyzed data from over 70,000 pregnant patients who underwent screening for fetal aneuploidies and segmental chromosome imbalances using a standardized protocol integrated with a secondary algorithm. The study reported that this approach significantly reduced discordant results and yielded high accuracy in a large clinical cohort. These findings reinforced the reliability of expanded NIPT in detecting genome-wide chromosomal conditions, supporting its broader application in clinical prenatal care.
• In March 2024, BillionToOne announced the launch of BabyPeek, a new genetic test offered as an add-on to its UNITY prenatal screen. This product enables expectant parents to discover non-medical traits of their baby, such as potential eye and hair color, as early as 10 weeks into pregnancy. While the UNITY test assesses fetal risk for recessive and chromosomal conditions, BabyPeek is designed to provide general insights into the baby's features to engage parents in the screening process. The company made this add-on available for an additional out-of-pocket cost of $99, aiming to broaden the accessibility and appeal of prenatal testing.

Key Market Players

• Agilent Technologies Inc
• BGI Group
• F. Hoffmann-La Roche ltd
• Illumina Inc
• Laboratory Corporation of America Holdings
• Natera Inc
• Genomic Health Inc
• Myriad Genetics Inc
• PerkinElmer Inc

By Type	By Application	By End user	By Region
Genetic Diseases Nonhereditary Diseases	Hemophilia Down Syndrome Cystic Fibrosis Autism Others	Hospitals And Clinics Pharmaceutical And Biotechnology Companies Others	North America Europe Asia Pacific South America Middle East & Africa

Report Scope:

In this report, the Global Prenatal DNA Sequencing Market has been segmented into the following categories, in addition to the industry trends which have also been detailed below:

• Prenatal DNA Sequencing Market, By Type:

• Genetic Diseases
• Nonhereditary Diseases

• Prenatal DNA Sequencing Market, By Application:

• Hemophilia
• Down Syndrome
• Cystic Fibrosis
• Autism
• Others

• Prenatal DNA Sequencing Market, By End user:

• Hospitals And Clinics
• Pharmaceutical And Biotechnology Companies
• Others

• Prenatal DNA Sequencing Market, By Region:

• North America
• United States
• Canada
• Mexico
• Europe
• France
• United Kingdom
• Italy
• Germany
• Spain
• Asia Pacific
• China
• India
• Japan
• Australia
• South Korea
• South America
• Brazil
• Argentina
• Colombia
• Middle East & Africa
• South Africa
• Saudi Arabia
• UAE