Newborn Screening Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, Segmented by Technology (Tandem Mass Spectrometry, Pulse Oximetry, Enzyme Based Assays, DNA Assays, and Other Technologies), By Test Type (Dried Blood Spot, Hearing Screening, Critical Congenital Heart Defect (CCHD), and Other Test Types), By End User (Hospitals, Diagnostic Centers, and Other End Users), By Region and Competition, 2020-2030F

Market Overview

Global Newborn Screening Market has valued at USD 854.15 Million in 2024 and is expected to reach USD 1345.11 Million by 2030 with a CAGR of 7.86% during the forecast period. Newborn screening is a public health program that involves the systematic testing of newborn infants for a range of genetic, metabolic, and congenital disorders shortly after birth. The primary goal of newborn screening is to identify infants at risk of certain serious or life-threatening conditions early in life, often before symptoms appear, so that appropriate medical intervention and treatment can be initiated promptly. Newborn screening is typically part of a public health program administered by government health agencies. It is offered to all newborns as part of routine healthcare shortly after birth. The specific disorders included in newborn screening panels and the timing of screening can vary by region and country. Local healthcare policies and resources influence the scope of newborn screening programs. The increasing prevalence of genetic and metabolic disorders among newborns is a significant driver. Early detection through newborn screening allows for prompt intervention and better management of these conditions.

The extensively growing prevalence of congenital diseases in newborns is expected to have a positive impact on the market growth for newborn screening. According to data published by the WHO in February 2023, an estimated 240,000 newborns die within 28 days of birth each year globally due to congenital diseases. Congenital disorders are further responsible for an estimated 170,000 child deaths aged between 1 month and 5 years. In addition, according to information from Indian Pediatrics, congenital hypothyroidism occurs in 2.1 out of every 1,000 infants in India, and the prevalence of inborn metabolic abnormalities ranges from 2-7.8%. Such substantial occurrence of congenital diseases amongst newborns is likely to increase the adoption of tests, which will eventually accelerate market growth by 2030.

Key Market Drivers

Advancements in Technology

Next-Generation Sequencing (NGS) has revolutionized newborn screening by enabling the simultaneous analysis of multiple genes associated with various genetic and metabolic disorders. It allows for more comprehensive screening, including the detection of rare and novel genetic mutations that were previously challenging to identify. NGS also enables the diagnosis of conditions with complex genetic underpinnings, such as spinal muscular atrophy (SMA) and some forms of intellectual disability. Tandem Mass Spectrometry (MS/MS) technology has become a standard tool for the analysis of metabolic disorders in newborns. It allows for the simultaneous measurement of multiple metabolites in a single blood sample, making it efficient and cost-effective. MS/MS has expanded the range of disorders that can be screened for, including amino acid disorders and fatty acid oxidation disorders. Multiplex assays enable the simultaneous measurement of multiple biomarkers or analytes within a single sample. These assays are used for the detection of various metabolic and genetic disorders, including lysosomal storage disorders and primary immunodeficiencies. Advances in DBS (Dried Blood Spot (DBS)) technology have improved the stability and sensitivity of blood samples collected on filter paper.

DBS allows for easy collection, transport, and storage of blood samples, making it a practical choice for newborn screening. Bioinformatics tools and software play a crucial role in interpreting the complex data generated by NGS and other advanced screening methods. These tools help identify disease-causing mutations and variations in the newborn's genome. POCT (Point-of-Care Testing) devices have been developed for specific newborn screening tests, allowing for rapid results at the bedside. For example, POCT pulse oximetry is used to screen for critical congenital heart defects (CCHD) shortly after birth. Miniaturization and automation of laboratory equipment have improved the efficiency and throughput of screening tests. Automated systems can process a higher volume of samples while maintaining accuracy and reducing human error. Advances in biomarker discovery have led to the identification of novel markers associated with various disorders. These biomarkers are used to develop new screening assays and expand the scope of newborn screening. Telemedicine and digital health platforms enable the efficient sharing of screening results with healthcare providers and specialists. Data integration with electronic health records (EHRs) facilitates the seamless flow of information and follow-up care for affected infants. Quality control measures and standards have improved the reliability of newborn screening tests, ensuring accurate results. This factor will help in the development of Global Newborn Screening Market.

Increasing Consumer Demand for Comprehensive Screening

Expectant parents and families today have access to a wealth of information about healthcare and medical testing. This increased access to information has raised awareness about the benefits of comprehensive newborn screening. Parents often want to ensure the best possible start for their newborns and value the early detection of potential health issues. Comprehensive screening offers a more thorough assessment of a newborn's health, providing greater peace of mind to parents. Many private healthcare providers and diagnostic centers offer comprehensive newborn screening packages. These packages often include a broader range of tests compared to standard public health screening programs. Some parents prefer the convenience of having all necessary screening tests conducted in one place and at one time. Comprehensive screening packages can provide this convenience. Some families may have a history of genetic or metabolic disorders, increasing their interest in comprehensive screening to assess their newborn's risk. Comprehensive screening can provide additional reassurance to parents, knowing that their newborn has been thoroughly assessed for a wide range of conditions. 

The introduction of government programs and legislation is also expected to offer a favorable environment for the newborn screening industry growth. For instance, in June 2022, the government of Manitoba announced the expansion of its newborn screening program with an aim to extend screening for spinal muscular atrophy along with other diseases. A majority of the nations have statutes for newborn screening, wherein funding for the program, various conditions requiring screening, and exemptions are clearly stated. For instance, the Manitoba government increased its budget by USD 4.2 million to deal with the additional workload of diagnosis.

In an increasingly globalized world, families may come from diverse backgrounds and regions with varying screening protocols. Comprehensive screening can help address potential gaps or differences in screening practices. Social media platforms and online parenting communities play a role in spreading information about newborn screening and influencing parental choices. Positive experiences shared by other parents can encourage comprehensive screening. Advances in technology and medical research have made comprehensive newborn screening more feasible and accessible, contributing to consumer demand. Some parents may seek customization of screening panels to align with their specific concerns or genetic history, driving the demand for personalized screening options. This factor will pace up the demand of Global Newborn Screening Market.

Rising Incidence of Genetic and Metabolic Disorders

Newborn screening allows for the early detection of genetic and metabolic disorders, often before symptoms appear. Early intervention and treatment can prevent or mitigate the severity of these conditions, improving the long-term health outcomes for affected infants. Many genetic and metabolic disorders, if left undetected and untreated, can lead to severe health complications, developmental delays, and even death. Newborn screening helps reduce the mortality and morbidity associated with these conditions by enabling early medical management. Timely diagnosis and intervention through newborn screening can significantly improve the quality of life for affected infants and their families. Early treatment can prevent irreversible damage and support better long-term outcomes. Identifying affected infants through newborn screening also has broader public health implications. It helps prevent the transmission of certain genetic disorders within families and populations by facilitating informed family planning decisions.

The incidence of genetic and metabolic disorders varies by population and region, but some conditions have become more prevalent due to factors such as changing demographics, increased consanguinity, and other genetic risk factors. Advances in screening technology have expanded the range of conditions that can be screened for efficiently and accurately. This has made it possible to include more disorders in newborn screening panels. As awareness about the benefits of newborn screening has grown among healthcare professionals and parents, there has been increased demand for these services. Education and outreach efforts have emphasized the importance of early detection. In many countries and regions, newborn screening is mandated by law or is part of standard healthcare practices. These mandates have contributed to increased screening rates and demand. International health organizations and initiatives have promoted the expansion of newborn screening programs, especially in low- and middle-income countries where the burden of genetic and metabolic disorders may be higher. The rise of precision medicine and genomics has underscored the importance of early genetic testing and diagnosis, further emphasizing the demand for newborn screening. This factor will accelerate the demand of Global Newborn Screening Market.

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Key Market Challenges

Education and Awareness

Many parents and caregivers may not be fully aware of the importance of newborn screening or may have misconceptions about the purpose and benefits of screening. Lack of awareness can result in missed opportunities for early detection and intervention. Healthcare professionals, including obstetricians, pediatricians, and midwives, play a crucial role in informing parents about newborn screening. However, not all healthcare providers may have the latest information or prioritize discussing newborn screening during prenatal and postnatal care visits. In multicultural and multilingual societies, language and cultural barriers can hinder effective communication about newborn screening. Ensuring that information is accessible and understandable to diverse populations is a challenge. Different countries and regions have varying healthcare systems, policies, and practices related to newborn screening. This can lead to disparities in awareness and access to screening services. In some low- and middle-income countries, resource constraints may limit the capacity for education and awareness campaigns about newborn screening. This can result in inadequate dissemination of information. Some genetic and metabolic disorders screened for in newborns may be poorly understood or carry stigmas. This can lead to reluctance among parents to participate in screening or follow-up testing.

Rare Diseases and Variability

Rare diseases encompass a wide range of conditions, each with their unique genetic and clinical characteristics. This heterogeneity makes it challenging to develop standardized screening tests that can detect all rare diseases efficiently. For many rare diseases, there is limited epidemiological data and clinical research available. This lack of information can hinder the development of effective screening protocols. Rare diseases, by definition, have low prevalence in the general population. This means that screening programs must test many newborns to identify a small number of affected individuals, which can be resource intensive. Rare diseases often have variable onset and clinical presentation. Some affected infants may not exhibit symptoms until later in life, making early detection through newborn screening more challenging. For some rare diseases, there may be limited or no effective treatments available. Early detection may not always lead to better outcomes if there are no viable treatment options. Genetic mutations responsible for rare diseases can vary widely between individuals. Developing screening tests that can detect all possible genetic variations is a complex task. Balancing sensitivity and specificity in screening tests for rare diseases is difficult. High sensitivity may lead to more false positives, while high specificity may result in false negatives.

Key Market Trends

Rise in Private Testing

Some parents are willing to pay for more extensive newborn screening panels that include a broader range of genetic and metabolic disorders than what is typically offered in public health programs. The trend toward personalized medicine has influenced newborn screening. Parents may seek customized screening options based on their family medical history or genetic predispositions. Private healthcare providers and diagnostic centers often invest in the latest screening technologies and methods, which can offer more comprehensive and accurate results. Private testing facilities may provide faster turnaround times for screening results, providing parents with peace of mind, and enabling earlier intervention if needed. Some families value the privacy and confidentiality offered by private testing centers, especially when it comes to genetic information. Private testing allows parents to have more control and autonomy over the screening process, including the choice of tests and the timing of testing. Private testing centers may offer additional services such as genetic counseling, family planning advice, and ongoing support for families with infants identified as having specific conditions. Families who travel or relocate internationally may opt for private testing to ensure continuity of care and consistent screening practices, especially if they come from regions with varying screening protocols.

Segmental Insights

Technology Insights

Based on Technology, Pulse Oximetry category held the largest market share and is predicted to continue expanding over the coming years.  Pulse oximetry is a non-invasive and relatively simple test that measures the oxygen saturation levels in a newborn's blood. This screening can help identify newborns with critical congenital heart defects (CCHD) early, allowing for prompt intervention and treatment. Pulse oximetry is a painless and non-invasive procedure that can be performed quickly and easily. It doesn't require drawing blood or other invasive methods, making it well-tolerated by infants and their parents. Many countries and regions have included pulse oximetry screening as part of their newborn screening guidelines, contributing to its widespread use for CCHD detection. Many healthcare organizations and professional societies recommend the use of pulse oximetry in newborn screening protocols, which can lead to its widespread adoption.

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Regional Insights

Based on Region, The North America region dominates the Global Newborn Screening Market. Due to government legislation, the availability of a strong healthcare infrastructure, the high prevalence of birth abnormalities in the region, and new technological advancements in newborn screening technologies by the players operating in the region.  The United States is predicted to have the greatest market share in the North American area. This is due to both the expanding need for sophisticated systems and the rising incidence rates of diseases in neonates. The study of diagnostic markers in blood spots collected on filter paper on an infant's second day of life is how every newborn in the United States is examined post-birth. United States reports 1 in 33 babies born with birth defects every year. In India, around 200,000 babies are born with congenital heart disease annually. Newborn screening is effective in spotting congenital heart disease early, allowing for better treatment outcomes.

Moreover, Newborn screening programs are run on a state basis within the United States; therefore, it has been observed that there is a lack of uniformity among the testing panels of many states. For instance, according to the data published by the Centers for Disease Control and Prevention, in 2022, about 3,613,647 new births were reported in the country, and the birth rate in the country 2022 was 11.0 per 1,000 population, and most of these birth in hospitals, thus, the screening is performed before babies' discharge. Further, the launch of new services and products in the region is expected to have a significant impact on the growth of the studied market. For instance, in June 2021, the Texas Health and Human Services launched newborn screening for Spinal Muscular Atrophy (SMA). Therefore, due to the above-mentioned factors, the newborn screening market is expected to have a significant market share over the forecast period.

Recent Developments

• In March 2024, The World Health Organization (WHO) introduced implementation guidance for Southeast Asia aimed at promoting universal screening in newborns for eye abnormalities, hearing impairments, and neonatal jaundice, supporting early detection and timely intervention.
• In February 2024, Niloufer Hospital in Hyderabad launched a newborn screening initiative focused on the early identification of rare genetic disorders, marking a significant step in improving neonatal healthcare services.
• In February 2024, A research initiative called Early Check successfully screened 1,000 newborns shortly after birth. The program aims to enable early treatment, educate parents, detect rare health conditions, and connect families with specialists across North Carolina.
• In 2024, the Indian Academy of Pediatrics stated that over 200,000 children are born annually with congenital heart disease in India, highlighting the ongoing need for early detection and intervention to manage such life-threatening conditions.
• In February 2023, the World Health Organization (WHO) reported that around 240,000 newborns globally die within the first 28 days of life each year due to congenital conditions. Additionally, congenital disorders are responsible for an estimated 170,000 deaths among children aged one month to five years.
• In August 2022, At the AMTZ Campus in Vishakhapatnam, Trivitron Healthcare has opened a centre of excellence with cutting-edge R&D and production facilities. Prof. Ajay Kumar Sood, Principal Scientific Advisor to the Government of India, and Prof. (Dr.) Balram Bhargava, Former Director General, Indian Council of Medical Research, both attended the launch ceremony. The facility includes a cell culture and analytical lab, an Advanced Genomics and Molecular Diagnostics facility for creating kits and reagents for Next Generation Sequencing (NGS), Oligonucleotide Synthesis (synthesis of custom primers and Taq Man Chemistry dual labelled probes), Protein Chemistry, and Next Generation Sequencing (NGS). The business intends to produce all the raw ingredients and parts for molecular diagnostics, NGS, and NBS internally using cutting-edge research methods and protocols.
• In June 2022, BeginNGS (pronounced "beginnings") will be used to screen newborns for about 400 genetic diseases for which there are known treatments using rapid whole genome sequencing (rWGS), according to a novel programme announced by the Rady Children's Institute for Genomic Medicine (RCIGM). A step up from the current paediatric uses of rWGS, which primarily concentrate on children who are already critically ill, eginNGS uses rWGS to diagnose and identify treatment options for genetic conditions before symptoms begin. It was developed through a research collaboration with Alexion, AstraZeneca's Rare Disease group, Fabric Genomics, Genomenon, Illumina, Inc., and TileDB.
• In September 2021, NHS England, and NHS Improvement (NHSEI), Public Health England (PHE), and the UK National Screening Committee (UK NSC) begin an evaluation of newborn blood spot screening for severe combined immunodeficiency (SCID) in England. It will be evaluated to see if SCID screening in England will be as effective as it has been in other nations with varied populations and healthcare systems.

Key Market Players

• Bio-Rad Laboratories Inc.
• GE Healthcare
• Masimo Corporation
• Medtronic Inc.
• Natus Medical Incorporated
• PerkinElmer Inc.
• Trivitron Healthcare
• ZenTech SA
• Demant A/S
• Hill-Rom Holdings Inc.

Report Scope:

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

•  Newborn Screening Market, By Technology:

o    Tandem Mass Spectrometry

o    Pulse Oximetry

o    Enzyme Based Assays

o    DNA Assays

o    Other Technologies

•  Newborn Screening Market, By Test Type:

o    Dried Blood Spot

o    Hearing Screening

o    Critical Congenital Heart Defect (CCHD)

o    Other Test Types

•  Newborn Screening Market, By End User:

o    Hospitals

o    Diagnostic Centers

o    Other End Users

• Global Newborn Screening Market, By region:

o   North America

§  United States

§  Canada

§  Mexico

o   Asia-Pacific

§  China

§  India

§  South Korea

§  Australia

§  Japan

o   Europe

§  Germany

§  France

§  United Kingdom

§  Spain

§  Italy

o   South America

§  Brazil

§  Argentina

§  Colombia

o   Middle East & Africa

§  South Africa

§  Saudi Arabia

§  UAE

Competitive Landscape

Company Profiles: Detailed analysis of the major companies present in the Global Newborn Screening Market.

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