Prenatal and Newborn Genetic Testing Market

Prenatal and Newborn Genetic Testing Market Size

The global prenatal and newborn genetic testing market size was valued at USD 8.1 billion in 2024. The market is anticipated to grow from USD 9.1 billion in 2025 to USD 26.8 billion in 2034, growing at a CAGR of 12.8% during the forecast period, according to the latest report published by Global Market Insights Inc.

The significant growth in the market is largely fueled by rising maternal age, increased risk of genetic disorders, and advancements in testing technologies. The worldwide trend of delayed pregnancies, especially in developed and urban areas, heightens the risk of chromosomal anomalies such as trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), or single-gene defects like cystic fibrosis (CF), hemochromatosis, and sickle cell anemia. This demographic shift urges the need for early genetic screening as part of routine prenatal diagnosis and newborn screening procedures. Thus, the growing adoption and awareness of early diagnosis and screening foster the market demand.

Prenatal and newborn genetic testing involves medical intervention conducted during pregnancy and shortly after birth to determine the possibility of a genetic condition, chromosomal anomalies, or birth defect in the fetus or newborn. This test includes both screening and diagnostic tests. The leading players in the market include Illumina, Natera, BGI Group, Thermo Fisher Scientific, and Labcorp. These companies offer advanced prenatal and newborn genetic screening and diagnostic solutions. They utilize technologies like next-generation sequencing (NGS) and polymerase chain reaction (PCR), and provide integrated platforms, cloud-based analysis, and customized tests, further shaping the market growth.

The shift towards non-invasive testing has significantly boosted market growth. Non-invasive prenatal testing (NIPT) examines cell-free fetal DNA (cfDNA) from the mother's blood to identify chromosomal defects with high sensitivity and low risk. The test has offered over 99% success for trisomy 21 detection, with ease of detection as early as 10 weeks of pregnancy has driven it towards increased application in the clinical setting. This has led the way for market players to broaden their NIPT offerings and investments in expanding NIPT panels to include microdeletions and sex chromosome disorders. With growing awareness and broader insurance coverage, NIPT is poised to be a major driver of the prenatal and newborn genetic testing market.

Government initiative programs, such as mandatory newborn screenings, enable early screening and diagnostics, stimulating the growth of the market. Supportive public health policies, insurance coverage, and funding improve access to testing, driving its adoption. Additionally, substantial investments in genomics and proteomics research have led to technological advancements, enhancing the accuracy and scope of prenatal and newborn genetic testing. These factors collectively foster a favorable environment for market expansion, improve health outcomes, and support early intervention strategies.

Prenatal genetic testing is performed during pregnancy to detect potential genetic disorders or birth defects such as Down syndrome, CF, and Tay-Sachs disease. After birth, newborn genetic testing screens for inherited conditions like phenylketonuria (PKU), spinal muscular atrophy (SMA), and congenital heart disease. These tests are crucial for early diagnosis, guiding treatment decisions, and improving health outcomes. Collectively, they support reducing infant mortality and providing improved long-term care by enabling timely medical interventions and informed parental choices.

Prenatal and Newborn Genetic Testing Market Trends

• The growing adoption of prenatal and newborn screening, driven by the rising prevalence of genetic disorders and chromosomal abnormalities, has significantly boosted its demand.
  
• The global rise in genetic disorders and chromosomal abnormalities has significantly increased the demand for prenatal and newborn genetic testing. According to the World Health Organization (WHO), the most common severe congenital disorders are heart defects, neural tube defects, and Down syndrome. Nine of ten children born with a serious congenital disorder are in low and middle-income countries. This growing severity contributes to long-term disability, which takes a significant toll on individuals, families, health care systems, and societies.
  
• In addition, an estimated 240,000 newborns die globally within 28 days of birth each year due to congenital disorders. This highlights the urgent need for awareness of newborn screening, mandatory screening programs, and improved access to early diagnostic services as essential components of preventive healthcare and public health policy.
  
• For instance, the NHS implemented the mandatory newborn screening procedure in England. According to the plans, every newborn in England will undergo an assessment of their DNA mapping to identify the risk of disease. The screening for rare diseases will involve sequencing their complete DNA using blood samples from their umbilical cord, taken shortly after birth. This breakthrough initiative aims to revolutionize the global efforts in managing genetic disease by enabling timely interventions and reducing the long-term disease burden.
  
• Moreover, the market is further driven by the declining cost of genetic sequencing, aided by wide market accessibility. For example, the cost of whole genome sequencing (WGS) has decreased from about USD 100,000 in 2001 to less than USD 1,000. The significant decrease resulted from rapid advancement in NGS technologies and the growing competition between diagnostic service providers.
  
• Additionally, growing investment from the government and private sector industry players in genetic test infrastructure is reshaping the market dynamics. These efforts collectively drive innovation and expand access to early diagnostic solutions, reinforcing market growth.
  

Prenatal and Newborn Genetic Testing Market Analysis

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Based on product and services, the market is segmented into kits and reagents and services. The kits and reagents segment held a dominant position in the market, valuing USD 5.1 billion in 2024.

• The widespread adoption of advanced testing kits, such as NIPT kits and cfDNA test kits that offer high accuracy and early detection, has underscored its demand in the market.
  
• These kits are essential for both clinical diagnostics and research applications, and their growing availability has significantly boosted market penetration.
  
• The presence of several companies offering specialized kits and reagents further supports this segment's leadership.
  

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Based on test type, the market is segmented into prenatal tests and newborn tests. The prenatal tests segment held a dominant position in 2024 with a share of 79.6%. The prenatal tests are further categorized into non-invasive prenatal testing (NIPT), carrier screening, serum screening, nuchal translucency ultrasound, chorionic villus sampling (CVS), and amniocentesis.

• The high market share was primarily driven due to the widespread awareness among parents of inherited congenital anomalies, emphasizing the need for early screening.
  
• Pregnancy after the age of 35 increases the risk of birth defects, particularly chromosomal defects such as Down syndrome, Turner syndrome, preterm birth, gestational diabetes, and other anomalies. For instance, as reported in several studies, the likelihood of having Down syndrome in a child rises from 1 in 100 for a woman conceiving at the age of 40.
  
• Additionally, Beth Israel Deaconess Medical Center highlights that 3-5% of babies are born with several genetic conditions. These statistics underscore the vital role of prenatal genetic testing in minimizing risks and supporting early detection.
  
• Moreover, the growing technological advancements, such as NIPT and cfDNA testing, have further accelerated the adoption by offering safer, faster, and more accurate screening options.
  
• For instance, in February 2025, Yourgene Health, a part of the Novacyt group, launched IONA Care+, a comprehensive service for genetic conditions in the UK. The service utilizes the IONA Nx NIPT workflow to deliver safe, fast, and accurate NIPT results. This breakthrough service aimed to offer high-quality and safe screening for pregnant women during their pregnancies.
  
• Thus, the aforementioned factors are expected to augment industry growth over the forecast period.
  

Based on technology, the market is segmented as next-generation sequencing (NGS), cell-free DNA (cfDNA), array-comparative genomic hybridization (aCGH), fluorescence in-situ hybridization (FISH), spectrometry, whole exome sequencing (WES), and other technologies. The cfDNA segment held a dominant position in the market and is poised to grow at a CAGR of 12.9% till 2034.

• The cfDNA technology is primarily used in NIPT, has gained widespread adoption due to its high accuracy, safety, and ability to detect chromosomal abnormalities early in pregnancy.
  
• This has fueled its demand, as cfDNA testing is increasingly favored by healthcare providers and expectant parents due to its minimal risk and reliable results.
  
• Additionally, the growing awareness of genetic disorders, coupled with advancements in screening technologies, has further strengthened the adoption of cfDNA-based tests, making it the leading segment in the market.
  

Based on application, the market is segmented into Down syndrome, phenylketonuria (PKU), cystic fibrosis (CF), sickle cell anemia, congenital hypothyroidism, Pendred syndrome, and other applications. The Down syndrome segment accounted for around 46.5% of market share with the total revenue of USD 3.8 billion in 2024.

• Down syndrome is one of the most prevalent chromosomal anomalies related to multiple congenital defects and leads to intellectual disability, causing severe health-related complications.
  
• According to the WHO, Down syndrome is observed in 1 out of 1,000 to 1,100 live births globally. Similarly, the Centers for Disease Control and Prevention (CDC) reported a 30% rise in the condition over recent years in the U.S. Thus, these rising cases elevated the prominence of the segments surging for early screening and diagnosis, thereby facilitating market growth.
  

Based on end use, the market is segmented as hospitals, diagnostic laboratories, maternity and specialty clinics, and other end users. The hospitals segment held a significant share in 2024 and is projected to be valued at USD 12.7 billion in 2034.

• The hospitals segment dominance was driven by its wide accessibility to advanced diagnostics technology, skilled professionals, and comprehensive prenatal care services.
  
• These healthcare settings also benefit from favorable reimbursement policies and higher patient confidence, making them the preferred choice for routine and high-risk screening.
  
• Additionally, their integrated infrastructure supports both screening and diagnostic procedures, contributing significantly to market growth.
  

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North America Prenatal and Newborn Genetic Testing Market

North America accounted for 52.3% market share in the prenatal and newborn genetic testing industry in 2024 and is anticipated to witness high growth during the forecast timeframe.

• North America leadership was asserted due to its highly developed healthcare infrastructure, greater awareness among expectant parents, and wide adoption of advanced technologies across the U.S. and Canada.
  
• The availability of large diagnostic laboratories, favorable reimbursement reforms, and proactive government backing for prenatal and newborn screening programs strengthen its leadership.
  
• The mandatory initiative of prenatal screening into routine obstetric practice across the region has encouraged the widespread adoption of advanced technologies.
  
• Additionally, expanding adoption of personalized medicine and genetic counseling services has built a strong ecosystem, propelling consistent market growth in the region.
  

The U.S. prenatal and newborn genetic testing market was valued at USD 2.7 billion and USD 3 billion in 2021 and 2022, respectively. The market size reached USD 3.8 billion in 2024, growing from USD 3.4 billion in 2023.

• U.S. dominance is attributed to several factors, such as its well-established healthcare infrastructure, widespread adoption of advanced diagnostic technologies, and strong government and private sector investment in genomics.
  
• The high rate of early screening and a growing demand for NIPT are making it a central hub for innovation and market expansion.
  
• For instance, according to the CDC, nearly 5,713 babies are born each year with trisomy 21, more commonly known as Down syndrome, in the U.S. This growing genetic disease prompts the need for early diagnosis for prenatal testing, driving the adoption in the country.
  
• Furthermore, high awareness among expectant parents, favorable reimbursement policies, and the presence of major industry players like Illumina and Natera further support market leadership.
  

Europe Prenatal and Newborn Genetic Testing Market

The European prenatal and newborn genetic testing industry held a revenue of USD 2.1 billion in 2024 and is anticipated to exhibit lucrative growth over the forecast period.

• European market growth is driven by a supported healthcare ecosystem and public funding in the genetic industry for genetic testing.
  
• Countries like Germany, the UK, France, and the Netherlands hold a strong potential in the market due to well-structured prenatal care programs and newborn screening programs.
  
• In addition, government initiatives like the Horizon Europe program and widespread rare disease strategies drive the growth despite varying reimbursement and testing protocols.
  
• Moreover, the advancing maternal age, coupled with increased cases of inherited disease, further extended the adoption of prenatal and newborn screening, expanding the European market.
  

Germany dominates the European prenatal and newborn genetic testing market, showcasing strong growth potential.

• The significant market growth in Germany is primarily driven by its advanced healthcare infrastructure, strong public and private investment, and well-established screening programs.
  
• The rising preterm birth rate, high fetal mortality, and growing prevalence of chromosomal anomalies have elevated the robust growth potential for early screening and diagnostic programs.
  
• According to EUROCAT, the prevalence of Down Syndrome has significantly risen from 22.43 to 28.45 in 10,000 births from 2013 to 2023 in Europe. These rising cases underscore the need for early screening and diagnostics, driving up their demand in European countries, including Germany.
  
• Thus, the high incidence of genetic disorders and congenital abnormalities is projected to fuel the demand for prenatal and newborn genetic testing, thereby fostering the market growth in Germany over the estimation timeframe.
  

Asia Pacific Prenatal and Newborn Genetic Testing Market

The Asia Pacific prenatal and newborn genetic testing industry is anticipated to witness significant growth over the analysis timeframe.

• The rapid expansion of prenatal and newborn genetic testing in the Asia Pacific is greatly influenced by the increased healthcare spending, high birth rates, coupled with the growing burden of inherited disorders.
  
• Countries like China, India, and Japan are the emerging contributors due to their large population and improving diagnostic capabilities.
  
• In addition, growing government initiatives and investment in healthcare infrastructure, and augmenting adoption of non-invasive testing methods are further accelerating its growth in the market.
  
• Thus, the aforementioned factors demonstrated significant potential and highly sustained growth.
  

China is anticipated to grow significantly within the Asia Pacific prenatal and newborn genetic testing market.

• The growth is fueled by rising maternal age, increased awareness of genetic disorders, government support for early screening, and the widespread adoption of NIPT.
  
• Additionally, China's expanding healthcare infrastructure and growing middle income are enhancing access to advanced diagnostics, making it a key driver in the Chinese market.
  

Latin America Prenatal and Newborn Genetic Testing Market

Latin America is experiencing significant growth in the prenatal and newborn genetic testing industry.

• Latin America is experiencing notable growth driven by rising awareness, expanding healthcare infrastructure, and increasing maternal age.
  
• Countries like Brazil, Mexico are leading this expansion, supported by progressive public healthcare systems and growing collaborations between international and local diagnostic firms.
  
• Technological advancements, mobile health platforms, and government-backed early detection initiatives are further enhancing access and demand across urban and semi-urban regions.
  

Middle East and Africa Prenatal and Newborn Genetic Testing Market

Saudi Arabia is poised to witness substantial growth in the Middle East and Africa prenatal and newborn genetic testing industry during the forecast period.

• Saudi Arabia's market is rapidly expanding, largely driven by rising maternal age, increasing awareness of genetic disorders, and strong government support under Vision 2030.
  
• The growth is supported by technological advancements, improved insurance coverage, and increased adoption of safer, accurate screening methods.
  
• Saudi Arabia’s expanding reproductive-age population, rising rates of high-risk pregnancies, and growing collaboration between public and private diagnostic firms are further accelerating market penetration.
  

Prenatal and Newborn Genetic Testing Market Share

The top 5 leading players in the prenatal and newborn genetic testing industry, including Illumina, Natera, BGI Group, Thermo Fisher Scientific, and LabCorp, collectively accounted for over 55-60% of the market share. These companies leverage advanced technologies, an extensive portfolio, strong research capabilities, and robust distribution networks.

Strategic collaborations between public health systems and private diagnostics firms are enhancing market penetration. Additionally, startups are entering the space with AI-driven platforms and non-invasive testing innovations, intensifying competition and accelerating market growth.

Prenatal and Newborn Genetic Testing Market Companies

A few of the prominent players operating in the prenatal and newborn genetic testing industry include:

• Aetna
• Agilent
• BGI Group
• BillionToOne
• CENTOGENE
• Eurofins
• Fulgent Genetics
• Genelab (Clevergene)
• Genes2me
• Illumina
• LabCorp 
• LaCAR 
• Myriad Genetics
• Natera
• Retrogen 
• Revvity 
• Thermo Fisher Scientific
• Trivitron Healthcare
• Yourgene Health
  
• Illumina

Illumina leads the prenatal and newborn genetic testing market with a share of 30-35% in 2024. Illumina offers industry-leading sequencing platforms and bioinformatics tools that deliver unmatched accuracy and scalability. Its strong focus on innovation and global reach enables comprehensive genetic testing solutions for both clinical and research applications, setting a high standard in the market.

• Natera

Natera’s proprietary SNP-based technology powers its non-invasive prenatal tests, offering superior sensitivity and specificity. Its Panorama test is widely trusted for early detection of chromosomal abnormalities, making Natera a leader in personalized, data-driven reproductive health diagnostics.

• Thermo Fisher Scientific

Thermo Fisher provides a broad range of genetic testing instruments, reagents, and software solutions. Its global distribution network and strong customer support make it a preferred partner for laboratories seeking reliable, high-throughput testing capabilities across diverse clinical settings.

• BGI Genomics

BGI Genomics combines affordability with advanced sequencing technologies, making genetic testing accessible in emerging markets. Its large-scale data processing and international collaborations support rapid diagnostics, positioning it as a key player in expanding global healthcare equity.

Prenatal and Newborn Genetic Testing Industry News

• In August 2025, Natera introduced Fetal Focus, an NIPT for inherited conditions such as CFTR (CF), SMN1 (SMA), HBA1 and HBA2 (alpha-thalassemia), and HBB (beta-hemoglobinopathies, including sickle cell disease) in prenatal. The launch was supported by the strong assay performance of its existing offering - EXPAND clinical trials. The launch aimed to bridge clinical gaps in prenatal care and enhance early genetic testing.
  
• In January 2025, Myriad Genetics introduced an educational website, “Know More Sooner,” highlighting the benefits of prenatal genetic testing, dispelling common myths, and providing guidance for screening. This initiative strengthens awareness and empowers informed decision-making among expectant parents.
  
• In February 2025, PT Naleya Genomik Indonesia (NGI), a joint venture of BGI Genomics’s Indonesian partnered with Rumah Sakit Anak dan Bunda - National Women and Children Health Center (RSAB) Harapan Kita to expedite research collaboration. This initiative focused on extending the NIPT-Pro and Copy Number Variation Sequencing (CNVseq) to advance prenatal genetic screening technology in Indonesia. This partnership marked a strategic breakthrough toward enhancing early detection and personalized care in maternal health across the country.
  
• In March 2024, BillionToOne launched BabyPeek, a prenatal genetic test in the U.S., offered as an add-on service to its existing Unity test. BabyPeek, a non-invasive test that uses maternal blood and cfDNA sequencing technology, determines ten non-medical traits enhancing early detection of inherited conditions of the baby. This launch reflected the expanding offering in precision diagnostics in prenatal care.
  
• In November 2022, Juno Diagnostics launched Juno Hazel, a finger-print non-invasive prenatal screening (NIPS) solution detecting trisomies 13, 18, and 21 with sensitivity and specificity of over 99%. This launch enhanced access and affordability in rural and underserved patient populations.
  

The prenatal and newborn genetic testing market research report includes in-depth coverage of the industry with estimates and forecast in terms of revenue in USD Million from 2021 - 2034 for the following segments:

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Market, By Product and Services

• Kits and reagents
• Services

Market, By Test Type

• Prenatal test
  • Screening tests
    • Non-invasive prenatal testing (NIPT)
    • Carrier screening
    • Serum screening
    • Nuchal translucency ultrasound
  • Diagnostic
    • Chorionic villus sampling (CVS)
    • Amniocentesis
• Newborn screening
  • Heel prick test
  • Hearing screening
  • Critical congenital heart defect (CCHD)
  • Other newborn screening tests

Market, By Technology

• Next-generation sequencing (NGS)
• Cell-free DNA (cfDNA) 
• Array-comparative genomic hybridization (aCGH)
• Fluorescence in-situ hybridization (FISH)
• Spectrometry
• Whole exome sequencing (WES)
• Other technologies

Market, By Application

• Down syndrome
• Phenylketonuria (PKU)
• Cystic fibrosis (CF)
• Sickle cell anemia 
• Congenital hypothyroidism
• Pendred syndrome
• Other applications

Market, By End Use

• Hospitals
• Diagnostic laboratories
• Maternity and specialty clinics
• Other end use

The above information is provided for the following regions and countries:

• North America
  • U.S.
  • Canada
• Europe
  • Germany
  • UK
  • France
  • Spain
  • Italy
  • Netherlands
• Asia Pacific
  • China
  • Japan
  • India
  • Australia
  • South Korea 
• Latin America
  • Brazil
  • Mexico
  • Argentina 
• Middle East and Africa
  • Saudi Arabia
  • South Africa
  • UAE