Prenatal DNA Sequencing Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, 2021-2031

The Global Prenatal DNA Sequencing Market is projected to expand from USD 2.61 Billion in 2025 to USD 3.89 Billion by 2031, reflecting a compound annual growth rate of 6.88%. This market focuses on analyzing fetal genetic material found in maternal blood to detect chromosomal aneuploidies and specific genetic disorders, driven by a growing clinical preference for non-invasive testing over riskier procedures like amniocentesis and the need for accurate evaluations due to rising maternal ages. Highlighting the clinical utility fueling this demand, the International Society for Prenatal Diagnosis reported in 2024 that prenatal exome sequencing achieved a diagnostic yield of 31 percent for unselected pregnancies presenting with sonographically detected anomalies.

However, the market faces hurdles due to the high costs of advanced sequencing tests and inconsistent reimbursement landscape. Many healthcare systems and insurers limit full coverage to high-risk pregnancies, creating financial barriers that restrict the adoption of these genomic technologies among the general low-risk population. This economic friction impedes broader market expansion, preventing these advanced diagnostic tools from becoming universally accessible to all expectant parents regardless of their risk profile.

Market Drivers

The market is expanding significantly due to the rapid shift toward Non-Invasive Prenatal Testing (NIPT) over traditional invasive methods, as healthcare providers and expectant parents prioritize safer, high-accuracy screening options to avoid the miscarriage risks associated with amniocentesis. This trend is evidenced by substantial growth in test volumes; for example, Natera reported in its First Quarter 2025 Financial Results that it processed approximately 855,100 tests, marking a 16.2 percent increase compared to the same period the previous year, underscoring the transition of NIPT into a mainstream standard of care.

Growth is further accelerated by technological breakthroughs in Next-Generation Sequencing (NGS) and bioinformatics, which are enabling earlier and more comprehensive fetal assessments through innovations such as single-molecule counting. Myriad Genetics noted in May 2025 that its prenatal testing revenue increased by 11 percent year-over-year, driven partly by the adoption of its Prequel Early Gestational Age test, while the sector's robust investment appeal was validated by BillionToOne’s initial public offering in November 2025, which raised approximately 273 million dollars.

Market Challenges

A primary obstacle restricting the growth of the Global Prenatal DNA Sequencing Market is the prohibitive cost of advanced sequencing tests combined with uneven reimbursement policies. Despite the clinical shift toward non-invasive methods, high price points prevent these tools from becoming standard care for the low-risk population, as payers often view these evaluations as medically necessary only for high-risk pregnancies, resulting in significant out-of-pocket expenses that limit test volume and revenue potential.

The severity of these coverage gaps significantly constrains the addressable market, as illustrated by the Coalition for Access to Prenatal Screening, which reported in March 2024 that four state Medicaid programs in the United States provided zero reimbursement for non-invasive prenatal screening for any pregnant individual, regardless of risk. Such fragmented policies force genomic companies to operate within a limited market scope, directly hampering their ability to scale operations and leading to stagnated adoption rates.

Market Trends

A fundamental shift in the market is the expansion of Non-Invasive Prenatal Testing (NIPT) to encompass microdeletions and monogenic disorders, moving beyond standard aneuploidy screening to detect conditions like cystic fibrosis directly from maternal blood. This demand for comprehensive, risk-free assessment is highlighted by BillionToOne’s report in January 2025, which stated that the company’s revenue reached 153 million dollars in 2024, largely fueled by its single-gene prenatal testing business capturing an estimated 15 percent share of the U.S. market.

Simultaneously, the integration of third-generation long-read sequencing is revolutionizing the detection of structural variants and repeat expansions that short-read technologies often miss, offering improved diagnostic yields for pregnancies with ultrasound abnormalities. Underscoring this trend, Oxford Nanopore Technologies reported in September 2025 that revenue from its Clinical market segment increased by 52.9 percent during the first half of the year, demonstrating the rapidly growing utility of nanopore-based sequencing in clinical diagnostics.

Key Players Profiled in the Prenatal DNA Sequencing Market

• 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.

Report Scope

In this report, the Global Prenatal DNA Sequencing Market has been segmented into the following categories:

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
• Europe
• Asia-Pacific
• South America
• Middle East & Africa

Competitive Landscape

Company Profiles: Detailed analysis of the major companies present in the Global Prenatal DNA Sequencing Market.

Available Customization

The analyst offers customization according to your specific needs. The following customization options are available for the report:

• Detailed analysis and profiling of additional market players (up to five).

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