Prenatal Testing & Newborn Screening Market Report 2025

This Prenatal Testing & Newborn Screening market report provides a comprehensive analysis of the market’s characteristics, size, and growth, including segmentation, regional and country-level breakdowns, competitive landscape, market shares, trends, and strategies. It also tracks historical and forecasted market growth across various geographies.

The prenatal testing & newborn screening market size has grown rapidly in recent years. It will grow from $6.24 billion in 2024 to $6.99 billion in 2025 at a compound annual growth rate (CAGR) of 12%. The growth in the historic period can be attributed to advancements in genetic testing, increased maternal age, awareness and education, healthcare policy and regulations.

The prenatal testing & newborn screening market size is expected to see rapid growth in the next few years. It will grow to $11.08 billion in 2029 at a compound annual growth rate (CAGR) of 12.2%. The growth in the forecast period can be attributed to genetic counseling, technological advancements, point-of-care testing, telehealth and remote monitoring. Major trends in the forecast period include non-invasive prenatal testing (nipt), preimplantation genetic testing (pgt), telemedicine consultations, maternal blood testing, hemoglobinopathies and sickle cell screening.

The growth of the prenatal testing and newborn screening market is significantly driven by the high prevalence of genetic diseases in infants. The World Health Organization identifies genetic diseases such as Thalassemia, Sickle Cell Anemia, Hemophilia, Cystic Fibrosis, Tay Sachs disease, Fragile X Syndrome, and Huntington’s disease. Among these, Sickle Cell Anemia, which predominantly affects individuals with African, American, Cuban, Central American, Saudi Arabian, and Indian ancestry, is particularly widespread. For instance, in February 2023, the Rady Children's Institute for Genomic Medicine, a U.S.-based research institute, reported that a study conducted at Rady Children’s Hospital found that 41% of infant deaths were attributed to single-locus (Mendelian) genetic diseases. This heightened prevalence of genetic diseases in infants has driven the demand for prenatal testing and newborn screening.

The prenatal testing and newborn screening market is poised for growth due to an increase in birth rates. Prenatal testing assesses the health of fetuses before birth, while newborn screening detects specific medical conditions shortly after birth, enabling early intervention when necessary. For example, in April 2024, a report published by the Centers for Disease Control and Prevention (CDC), a U.S.-based government agency, revealed that the cesarean delivery rate increased for the fourth consecutive year in 2023, reaching 32.4%. Additionally, the rate of low-risk cesarean deliveries rose to 26.6%. Therefore, the rising birth rate is a key driver of the prenatal testing and newborn screening market.

Leading companies in the prenatal testing and newborn screening market are focusing on introducing innovative programs that leverage rapid Whole Genome Sequencing (rWGS) technology to quickly and accurately detect genetic disorders in newborns, allowing for early diagnosis and intervention to improve health outcomes. rWGS technology is an advanced genomic technique that rapidly sequences an individual’s entire genome. Unlike traditional genetic testing methods that target specific genes or regions, rWGS captures all the DNA in a person’s genome to identify genetic variants associated with diseases or disorders. For example, in June 2022, Rady Children's Institute for Genomic Medicine, a U.S.-based organization, launched BeginNGS, a novel program aimed at identifying and diagnosing approximately 400 genetic disorders with known treatment options before symptoms appear. BeginNGS is optimizing genomic sequencing processes and plans to expand testing capabilities to include around 1,000 disorders. The ultimate goal is to screen 3.7 million newborns annually, making this practice a standard procedure in hospitals nationwide.

Key players in the prenatal testing and newborn screening market are focused on developing innovative newborn screening devices to enhance the early detection of genetic, metabolic, and other health conditions, enabling timely interventions and improved health outcomes for newborns. Newborn screening point-of-care devices are designed to provide faster, more accessible, and cost-effective screening for newborns, accommodating the seven standard newborn screening tests conducted globally. For example, in September 2023, Mylab Discovery Solutions Pvt. Ltd., an India-based company, launched MyNeoShield, a newborn screening point-of-care device. MyNeoShield is designed to be low-cost, priced at about one-fifth of existing solutions, which typically range from ₹50 lakhs to ₹7 crores. By bringing testing directly to healthcare providers, MyNeoShield aims to improve access to critical health services for newborns, particularly in underserved regions.

In January 2022, Exact Sciences Corp., a molecular diagnostics company, completed the acquisition of Prevention Genetics for $190 million. This acquisition enhances Exact Sciences' advanced cancer diagnostics portfolio and allows the company to enter the hereditary cancer testing (HCT) market. Prevention Genetics, a company specializing in clinical DNA (genetic) tests for prenatal testing and newborn screening, complements Exact Sciences' capabilities and expands its market presence.

Prenatal testing and newborn screening are medical practices designed to evaluate the health of both the fetus during pregnancy and the newborn after birth. Prenatal testing encompasses a range of assessments, such as blood tests and ultrasounds, to identify potential genetic or developmental disorders in the fetus. Newborn screening involves conducting tests shortly after birth to detect metabolic, genetic, and endocrine disorders, enabling early intervention and treatment to enhance health outcomes for infants.

The primary diagnostic categories within prenatal testing and newborn screening encompass non-invasive and invasive methods. Invasive diagnostic testing involves procedures that penetrate the skin or body, including techniques such as blood testing, biopsies, and colonoscopies. These diagnostic methods leverage various technologies, including screening and diagnostic technology, and are applied across a range of sectors, including hospitals and diagnostic centers.

The prenatal testing & newborn screening market research report is one of a series of new reports that provides prenatal testing & newborn screening market statistics, including prenatal testing & newborn screening industry global market size, regional shares, competitors with prenatal testing & newborn screening market share, detailed prenatal testing & newborn screening market segments, market trends and opportunities, and any further data you may need to thrive in the prenatal testing and newborn screening tests industry. This prenatal testing and newborn screening tests market research report delivers a complete perspective of everything you need, with an in-depth analysis of the current and future scenario of the industry.

Major companies operating in the prenatal testing & newborn screening market include PerkinElmer Inc., Laboratory Corporation of America Holdings (LabCorp), Natera Inc., Invitae Corporation, Centogene AG, Cradle Genomics Inc., Roche Diagnostics International AG, Quest Diagnostics Incorporated, Baebies Inc., Progenity Inc., Ravgen Inc., Strand Life Sciences Pvt. Ltd., Eurofins Scientific, Illumina Inc., Agilent Technologies Inc., Thermo Fisher Scientific Inc., F. Hoffmann-La Roche Ltd., Bio-Rad Laboratories Inc., General Electric Company, Siemens Healthineers AG, BGI Group, QIAGEN N.V., Veracyte Inc., NIPD Genetics, Novacyt UK, Ariosa Diagnostics Inc., Verinata Health Inc., Counsyl a Myriad Company, GenPath Diagnostics, Sonic Healthcare Limited, Cepheid a Danaher Company, Guardant Health Inc., Genetron Health (Beijing) Co. Ltd.

North America was the largest region in the prenatal testing & newborn screening market in 2024. Western Europe was the second largest region in the prenatal testing and newborn screening market. The regions covered in the prenatal testing & newborn screening market report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East, Africa. The countries covered in the prenatal testing & newborn screening market report are Australia, Brazil, China, France, Germany, India, Indonesia, Japan, Russia, South Korea, UK, USA, Italy, Spain, Canada.

The prenatal testing & newborn screening market includes revenues earned by entities by providing blood test services, hearing test services, CCHD screening tests, and non-invasive tests. The market value includes the value of related goods sold by the service provider or included within the service offering. Only goods and services traded between entities or sold to end consumers are included.

The market value is defined as the revenues that enterprises gain from the sale of goods and/or services within the specified market and geography through sales, grants, or donations in terms of the currency (in USD, unless otherwise specified).

The revenues for a specified geography are consumption values that are revenues generated by organizations in the specified geography within the market, irrespective of where they are produced. It does not include revenues from resales along the supply chain, either further along the supply chain or as part of other products.

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