Prenatal and Newborn Genetic Testing Market By Test Type (Non-Invasive Prenatal Testing (NIPT), Invasive Prenatal Testing, Newborn Genetic Screening), By End-User (Hospitals, Diagnostic Laboratories, Clinics, Home Care Providers), By Technology (Next-Generation Sequencing (NGS), Polymerase Chain Reaction (PCR), Microarray Technology), and By Region; Global Insights & Forecast (2023 – 2030)

As per Intent Market Research, the Prenatal and Newborn Genetic Testing Market was valued at USD 9.7 billion in 2024-e and will surpass USD 15.8 billion by 2030; growing at a CAGR of 8.5% during 2025 - 2030.

The prenatal and newborn genetic testing market has seen significant growth, driven by advancements in molecular genetics and increasing awareness about the importance of early detection of genetic conditions. Prenatal testing enables healthcare providers to identify potential genetic disorders in the fetus, while newborn screening ensures early diagnosis of hereditary diseases that could affect infant health. These tests provide invaluable insights into the health of both mothers and babies, allowing for timely interventions and better management of genetic conditions. As the demand for personalized healthcare continues to rise, genetic testing has become an integral part of modern prenatal and postnatal care.

Technological innovations, particularly in non-invasive testing methods and next-generation sequencing, have significantly improved the accuracy, accessibility, and affordability of genetic testing. Non-invasive prenatal testing (NIPT) and other advanced techniques such as whole genome sequencing are reshaping the landscape of genetic diagnostics. As healthcare systems globally strive for more personalized and preventive healthcare, the prenatal and newborn genetic testing market is poised for continued expansion, with a growing number of tests being incorporated into routine prenatal and neonatal care.

Non-Invasive Prenatal Testing (NIPT) is Largest Owing to Accuracy and Safety

Non-invasive prenatal testing (NIPT), particularly cell-free fetal DNA testing, is the largest segment in the prenatal and newborn genetic testing market, owing to its high accuracy, safety, and convenience. NIPT involves the analysis of small fragments of fetal DNA circulating in the mother's blood, allowing for the detection of chromosomal abnormalities such as Down syndrome, trisomy 18, and trisomy 13 without the risks associated with invasive procedures like amniocentesis or chorionic villus sampling (CVS). This method has gained widespread adoption due to its non-invasive nature and the minimal risk to both mother and baby.

The growth of NIPT is fueled by its superior sensitivity and specificity compared to traditional screening methods, making it the preferred choice for prenatal genetic testing. The increasing availability of NIPT in both developed and emerging markets is driving its dominance in the market. As more healthcare providers offer NIPT as part of routine prenatal care, its market share is expected to continue expanding, providing more expectant mothers with an accessible and reliable testing option.

Newborn Genetic Screening is Fastest Growing Owing to Early Detection of Hereditary Conditions

The newborn genetic screening segment is the fastest growing in the prenatal and newborn genetic testing market, driven by the increasing emphasis on early diagnosis and prevention of hereditary conditions. Newborn screening panels, which test for a wide range of genetic disorders such as cystic fibrosis, sickle cell anemia, and phenylketonuria (PKU), are becoming standard practice in many countries. Early detection of these conditions allows for timely interventions, improving the health outcomes of newborns and preventing the onset of severe symptoms or complications.

In addition, the growing adoption of whole genome sequencing (WGS) in newborn screening is contributing to the segment's rapid growth. WGS offers a comprehensive approach to identifying genetic predispositions to a variety of health conditions, providing healthcare providers with deeper insights into an infant's genetic makeup. As the availability of advanced genetic testing technologies increases and the cost of sequencing decreases, newborn genetic screening is expected to become even more widespread, fueling the segment's expansion.

Diagnostic Laboratories Segment is Largest Owing to Comprehensive Testing Services

Diagnostic laboratories are the largest end-user segment in the prenatal and newborn genetic testing market, as they play a central role in performing genetic tests and providing detailed results to healthcare providers and patients. These laboratories are equipped with advanced technologies and have the expertise to conduct a wide range of prenatal and newborn genetic tests, including NIPT, amniocentesis, CVS, and newborn screening panels. The accuracy and reliability of the results provided by diagnostic laboratories make them the preferred choice for healthcare providers.

The increasing demand for genetic testing, coupled with the growing awareness of the benefits of early detection, is driving the expansion of diagnostic laboratories as key players in the genetic testing market. These laboratories are also expanding their services to include next-generation sequencing and other cutting-edge technologies, ensuring they remain at the forefront of genetic testing advancements. The strong presence of diagnostic laboratories in the market is expected to continue, as they play a crucial role in enabling early genetic testing and diagnosis.

Next-Generation Sequencing (NGS) Technology is Fastest Growing Owing to Comprehensive Genetic Analysis

Next-generation sequencing (NGS) technology is the fastest growing in the prenatal and newborn genetic testing market, owing to its ability to provide comprehensive genetic analysis with high accuracy. NGS allows for the sequencing of entire genomes or targeted regions, enabling the detection of genetic mutations, rare genetic disorders, and predispositions to various health conditions. This technology is particularly valuable in both prenatal and newborn genetic testing, as it can analyze vast amounts of genetic data in a short period, providing insights that were previously unattainable with older testing methods.

The rapid advancements in NGS technology, along with its decreasing costs, have contributed to its growing adoption in genetic testing. The ability to detect a wide range of genetic abnormalities and offer personalized insights into genetic health has made NGS a preferred method for both prenatal and newborn screening. As the technology becomes more accessible and affordable, its role in the prenatal and newborn genetic testing market is expected to continue to expand, further driving market growth.

North America is Largest Owing to Advanced Healthcare Systems and High Adoption Rates

North America is the largest region in the prenatal and newborn genetic testing market, driven by its advanced healthcare systems, high adoption rates of genetic testing, and widespread awareness of genetic disorders. In the United States and Canada, genetic testing is routinely offered as part of prenatal and neonatal care, with many healthcare providers recommending NIPT and newborn screening as standard procedures. The presence of leading diagnostic laboratories, research institutions, and genetic testing companies further strengthens the region's dominance in the market.

The region also benefits from a strong regulatory framework that ensures the quality and accuracy of genetic testing services. Additionally, the increasing integration of genetic testing into routine medical practice and the growing focus on personalized healthcare are contributing to the rapid growth of the market in North America. As the demand for genetic testing continues to rise, North America is expected to maintain its leadership position in the global market.

Competitive Landscape

The prenatal and newborn genetic testing market is highly competitive, with several key players leading the development and commercialization of advanced genetic testing technologies. Companies such as Illumina, Thermo Fisher Scientific, and Roche are at the forefront of the market, offering a wide range of genetic testing solutions, including NIPT, whole genome sequencing, and PCR-based testing. These companies are continuously investing in research and development to enhance the accuracy, efficiency, and accessibility of their testing services.

In addition to these global players, diagnostic laboratories and healthcare providers also play a significant role in the competitive landscape. As demand for genetic testing grows, companies and laboratories are forming strategic partnerships to expand their service offerings and improve patient access to cutting-edge technologies. The competitive dynamics of the market are driven by innovation, regulatory support, and the ongoing need for early detection and personalized healthcare solutions.

List of Leading Companies:

• Illumina, Inc.
• Thermo Fisher Scientific Inc.
• PerkinElmer Inc.
• Abbott Laboratories
• Roche Diagnostics
• Myriad Genetics
• Invitae Corporation
• Natera, Inc.
• Ariosa Diagnostics (Roche)
• LabCorp
• Quest Diagnostics
• Fulgent Genetics
• GeneDx
• DNA Diagnostics Center
• Century Diagnostic Laboratories

Recent Developments:

• In January 2025, GeneDx achieved a significant milestone by reporting its first adjusted net income, driven by a 52% increase in revenue and its focus on exome and genome sequencing.
• In December 2024, Revvity announced the launch of an e-commerce platform and new supply chain optimizations to expand its global newborn screening services.
• In December 2024, Hertility Health revealed plans to expand its at-home fertility testing to the U.S., aiming for FDA approval and reducing diagnosis times for reproductive conditions.
• In November 2024, Genomic Prediction introduced advanced polygenic risk score tests to predict the likelihood of conditions like diabetes and heart disease in embryos, sparking ethical debates.
• In October 2024, Revvity increased its R&D spending post-PerkinElmer split to accelerate software development and advance its diagnostics portfolio.

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