Newborn Screening Market Size Analysis

The Newborn Screening Market size was USD 880 million in 2023 and is expected to reach USD 1,710.7 million by 2032, growing at a 7.68% CAGR from 2024 to 2032.

The Newborn Screening Market report provides key statistical insights and trends shaping the industry. It includes information on the incidence and prevalence of congenital disorders identified via screening programs and regional adoption rates of screening tests in 2023. The report examines healthcare spending from government, private and out-of-pocket sources, and trends in funding. It analyzes the advances in screening technologies such as NGS and AI-driven technologies and their impact on diagnostics. The report also delves into regulatory and compliance trends shaping screening policies across the globe. It includes an analysis of the market dynamics for newborn screening kits and devices and highlights the demand and regional variations.

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Such insights enable stakeholders to develop laws to expand in change, technological advancements, and investment opportunities in neonatal healthcare. Government initiatives to improve awareness of the early detection of disease in infants, coupled with the expansion of the global newborn screening market, are contributing to the growth of this industry. According to the National Organization for Rare Disorders (NORD), almost 4 million infants are screened each year in the United States for specific rare diseases that, in the absence of early detection and treatment, may lead to permanent disability or death.

Newborn Screening Market Dynamics

Drivers

• Advancements in genetic testing technologies have enabled early detection of various congenital conditions, prompting higher demand for newborn screening programs.

The increment in the newborn screening programs has been largely driven by advancements in genetic testing technologies that have greatly improved the diagnosis of congenital conditions. Recent projects emphasize this trend. In October 2024, NHS England announced a world-first study to screen 100,000 newborns for over 200 genetic conditions through whole genome sequencing (WGS). This approach is used for the routine screening of treatable, rare conditions shortly after birth so that there can ideally be timely intervention to improve or save lives.” So far, more than 500 blood samples have been collected at 13 hospitals, which will soon expand to about 40 hospitals nationwide. Also in August 2024, Queensland, Australia, became the first in the world to offer an advanced heel prick test that can detect hundreds of genetic conditions in newborns. Funded by a $5.5 million federal grant, this effort will initially test 60,000 babies where their parents consent, with the plan to add conditions as treatments are available.

In the United States, a study published in October 2024 found that genome sequencing detected 120 babies with serious and treatable health conditions among 4,000 tested newborns. In contrast, conventional screening techniques identified only 10 of those cases. This significant disparity highlights the efficacy of advanced genetic testing in early disease detection. These developments reflect a global shift towards integrating comprehensive genetic testing into standard newborn screening protocols, aiming to facilitate early diagnosis and intervention for a broader spectrum of congenital conditions.

Restraint:

• Ethical concerns, such as consent, privacy, and the potential psychological impact on families, pose challenges to the widespread adoption of newborn screening programs.

Ethical issues greatly affect the implementation of neonatal screening programs. A major concern is genetic discrimination, which occurs when people identified with certain genetic traits could be discriminated against in the workplace or their access to insurance. For example, the services of a U.S. startup that will screen embryos for intelligence have raised concerns that they promote genetic superiority and social inequality. Another major issue is privacy. When genetic data from newborns are collected and stored, strict protections are needed to ensure these aren’t accessed or used inappropriately. Without appropriate data protection, there can be data breaches exposing sensitive personal information. Informed consent is yet another contentious concern. Ensuring full parental comprehension of the risks implications, and limitations, of genetic testing, especially when results might prognosticate future health risks without consequential specificity, is also quite challenging. This uncertainty can be stressful and anxiety-provoking for families. Moreover, the possibility of false positives or uncertain results may lead to unnecessary interventions or emotional distress.

Opportunity:

• The development and widespread adoption of point-of-care testing solutions offer timely and convenient diagnostic capabilities, enhancing accessibility and efficiency in newborn screening.

POC testing solutions have a considerable opportunity for improved diagnosis and intervention of numerous congenital disorders through integration into newborn screening programs. Existing methods for newborn screening are considered tedious procedures requiring centralized laboratories and longer waiting periods for results that delay vital medical treatments. Conversely, POC testing allows for rapid, in-field testing to enable diagnosis and treatment. Recent developments highlight this potential. In September 2023, Mylab Discovery Solutions launched 'MyNeoShield,' a patent-pending POC device to run all seven standard newborn screening tests. This device gives results in four hours a tremendous leap over traditional methods, which could take 24 hours or more. Such rapid turnaround times are crucial, especially in remote or underserved areas where timely medical action within the critical 48-hour window is essential.

In Queensland, Australia, "the world's first" new rollout began around mid-2024, deploying a more sophisticated heel prick test to identify hundreds of genetic illnesses in newborns. This will greatly increase the number of disorders going from 32 to up to 50 which can be detected earlier leading to improved intervention and treatment outcomes. USD 5.5 million for this project from the federal government, which is significant due to POC testing being funded by a public health program in their state. Most notably, several of these developments highlight a global momentum towards autosomal recessive POC testing being used in newborn screening due to the need for rapid, non-invasive, and cost-effective diagnostic alternatives. Point-of-care comprehensive screenings also expedite diagnoses and guarantee that infants receive timely medical treatments, which leads to better outcomes and a decreased incidence of congenital disorders.

Challenge:

• Stigma and discrimination associated with certain conditions detected through newborn screening can deter parents from participating, leading to underutilization of these programs.

The stigma and discrimination associated with conditions identified through newborn screening are major barriers to the successful implementation of these programs. Anticipate a good amount of knowledge gap, as according to a survey conducted in May 2024, almost half 49% of parents did not know the conditions tested for in newborn screening tests. People don't see the detailed information available to them which can lead to confusion and anxiety when a customer receives unexpected results. In addition, 75% of parents with a child who received a positive result of newborn screening had difficulties interpreting the results of the tests, while 34% of parents who had received a positive newborn screening result did not feel sufficiently supported by medical practitioners.

In the Indian context, cultural factors further exacerbate these challenges. Deep-seated beliefs attributing health conditions to fate or karma contribute to the stigma surrounding genetic testing. Individuals may avoid these newborn screening programs for fear of social ostracization and discrimination. Additionally, fears regarding privacy and the potential misuse of genetic information for discrimination in employment or insurance heighten resistance to such testing. Addressing these issues requires comprehensive public education to demystify newborn screening and genetic testing, ensuring that parents are well-informed about the benefits and limitations. Better communication between healthcare providers and families is needed to help parents understand test results and the next steps. By putting in place policies to ensure protection against discrimination and data privacy, fears around such screenings can also be alleviated, leading to wider participation in newborn screening programs.

Newborn Screening Market Segmentation Analysis

By Technology

The tandem mass spectrometry segment dominated the market and accounted for a 25% share in the newborn screening market in 2023. The technology's high sensitivity, specificity, and simultaneous detection of multiple disorders have contributed to this substantial market share. The advent of tandem mass spectrometry technology has revolutionized newborn screening by allowing multiple metabolic disorders to be tested on a single blood spot. Data from government statistics corroborates how significant technology like this is in newborn screening programs. For example, the U.S. Health Resources and Services Administration (HRSA) states that tandem mass spectrometry enables the detection of over 50 unique disorders, whereas previously there were only a few detectable disorders. Such expansion has resulted in the earlier diagnosis and treatment of rare but serious genetic disorders, positively impacting the health of patients for both themselves and their families.

Tandem mass spectrometry's ability to process large numbers of samples rapidly and accurately has made it a valuable tool for use in public health screening programs. As many states are now screening for 20–30 different disorders in their routine state early newborn screening panels, it is no surprise that adoption of this technology has been reported by State health departments. The cost-effectiveness of tandem mass spectrometry in detecting multiple disorders from a single test has also contributed to its widespread adoption, aligning with government efforts to improve healthcare efficiency and reduce long-term medical costs associated with late-diagnosed genetic disorders.

By Test Type

In 2023, dry blood spot tests led the newborn screening market with more than 46% of the revenue share. This substantial market share can be attributed primarily to the simplicity, cost-effectiveness, and reliability of dry blood spot testing in global newborn screening programs. The prevalence and success of dry blood spot tests are highlighted in government statistics. According to the U.S. Centers for Disease Control and Prevention (CDC), nearly all of the 4 million babies born in the United States each year undergo newborn screening using dry blood spot tests. Such a high coverage rate speaks to the accessibility of the test and acceptance of the test in healthcare systems.

According to the U.K. National Health Service (NHS), more than 97% of all newborns in 2023 were screened in the appropriate time frame for bloodspot testing, illustrating how deeply embedded the test has become in postnatal care. Dry blood spot tests, for example, can identify many disorders by analyzing a small sample, making them ideal for high-throughput screening initiatives. They are the cornerstone of newborn screening programs worldwide owing to their ease of collection, stability in transport, and ability to facilitate multiple analyses. In addition, WHO has highlighted dry blood spot testing as a pivotal component in advancing newborn screening efforts in low- and middle-income countries, emphasizing its role in global health initiatives targeting the prevention of fatal or debilitating conditions in infants that are amenable to treatment intervention.

By Product

In 2023, the instruments segment accounted for the largest market share 74%. significantly to the overall newborn screening tests, the need for specialized instruments is paramount to conduct these tests successfully and promptly in various healthcare settings. Recent government data shows the potential importance of more advanced screening instruments for newborns. According to the U.S. Health Resources and Services Administration (HRSA), advances in screening equipment have led to the successful implementation of newborn screening programs that test for more than 30 different conditions in a majority of states, a dramatic increase from just a few decades ago. These advances have enabled the expansion of newborn screening to more disorders that can be detected accurately and efficiently with sophisticated screening tools.

The increase in market share of the instruments segment is also owing to continuous government investments in upgrading newborn screening infrastructure. For example, the Centers for Disease Control and Prevention's (CDC) Newborn Screening Quality Assurance Program assists state health departments in monitoring and improving their screening which facilitates improved quality testing throughout the country. Well-maintained and well-calibrated instruments are essential to meet the high sensitivity and specificity demanded by newborn screening tests, according to data collected by the program. Furthermore, the FDA among other regulatory bodies has been highly engaged in validation, further facilitating and propelling innovation in the market. These approvals have also resulted in the advent of better, faster, and more precise screening tools which helped establish the dominance of the instruments segment in the newborn screening market.

By End User

In 2023, the clinical laboratories segment held a large share of the newborn screening market. This dominant position is mainly attributed to the key function of the clinical laboratories in the processing and analysis of all samples for newborn screening and their ability to perform high test volumes due to advanced equipment and expertise. Government data show the important role clinical laboratories play in newborn screening programs. State public health laboratories and specialized clinical laboratories process millions of newborn screening samples each year, according to the U.S. Centers for Disease Control and Prevention (CDC). In 2023, these laboratories collectively analyzed samples from approximately 98% of all newborns in the United States, demonstrating their extensive reach and capacity.

According to the Association of Public Health Laboratories (APHL), in 2023, the total number of initial screens performed by accredited newborn screening laboratories across the U.S. surpassed 4 million, although many labs also perform necessary secondary and confirmatory testing. This high volume of testing underscores the significant market share held by clinical laboratories in the newborn screening ecosystem. In addition, government policies have bolstered the role of clinical laboratories in newborn screening. For instance, the Newborn Screening Saves Lives Reauthorization Act of 2022 in the U.S. provided funding for improving laboratory quality and capacity, recognizing their critical role in early disease detection and prevention.

Newborn Screening Market Regional Insights

North America held the largest share of the global newborn screening market in 2023, accounting for nearly 40% of the total market share. The country is also being led due to its advanced healthcare infrastructure, high range of awareness, and strong support from governments for various newborn screening programs. According to the U.S. Centers for Disease Control and Prevention (CDC), newborn screening in the United States catches nearly 4 million infants each year, with all states screening for at least 31 of the 35 recommended core conditions.

The Asia-Pacific region is expected to register the highest CAGR during the forecast period. Such rapid growth is being attributed to increasing government initiatives, high birth rates, and rising awareness regarding early disease detection in newborns. In India, for example, the government's Rashtriya Bal Swasthya Karyakram (RBSK) program has been introducing newborn screening services throughout the country. The Indian Council of Medical Research (ICMR) states that multiple states have initiated extensive newborn screening programs and some have reached 90%+ coverage for certain conditions such as congenital hypothyroidism. China, another major player in the Asia-Pacific region, has made great progress in newborn screening. The National Health Commission of China reported in 2023 that the country's newborn screening coverage for phenylketonuria and congenital hypothyroidism exceeded 98% nationwide. This high coverage rate, combined with the large population base, contributes significantly to the region's growing market share and rapid CAGR in the newborn screening market.

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Key Players in the Newborn Screening Market

Key Service Providers/Manufacturers

• PerkinElmer, Inc. (EnLite Neonatal TREC Kit, NeoBase 2 Non-Derivatized MSMS Kit)

• Natus Medical Incorporated (ALGO 5 Newborn Hearing Screener, Echo-Screen III Hearing Screener)

• Bio-Rad Laboratories, Inc. (Neonatal hTSH kit, VARIANT™ NBS Sickle Cell Program)

• GE Healthcare (Giraffe Incubator Carestation, Corometrics 170 Series Fetal Monitor)

• Thermo Fisher Scientific Inc. (Neonatal Total Galactose Kit, MassARRAY System)

• Agilent Technologies, Inc. (SureScan Microarray Scanner, 2100 Bioanalyzer)

• Waters Corporation (ACQUITY UPLC System, Xevo TQ-S Mass Spectrometer)

• Trivitron Healthcare (Neomass AAAC Kit, Newborn Screening Software)

• Baebies, Inc. (SEEKER Platform, FINDER Platform)

• Medtronic plc (INVOS™ Cerebral/Somatic Oximeter, Nellcor™ Pulse Oximetry)

• Masimo Corporation (Rad-97 Pulse CO-Oximeter, Pronto Pulse CO-Oximeter)

• Zentech S.A. (Neonatal G6PD Assay, NeoMass AAAC Kit)

• Demant A/S (AccuScreen Newborn Hearing Screener, MADSEN AccuScreen)

• Hill-Rom Holdings, Inc. (Welch Allyn Spot Vision Screener, Panda Warmer)

• Revvity (GSP® Neonatal Screening System, DELFIA® Xpress System)

• Natera, Inc. (Panorama Non-Invasive Prenatal Test, Horizon Carrier Screening)

• OZ Systems (eSP™ Newborn Screening Management Software, Telepathy CCHD Screening)

• Abionic SA (IVD CAPSULE PSP, IVD CAPSULE Ferritin)

• Metascreen (Metascreen Metabolic Screening Test)

• Cordlife Group Limited (Metascreen Newborn Metabolic Screening, Eyescreen Paediatric Vision Screening)

Recent Developments in the Newborn Screening Market

• In November 2024, the UK National Screening Committee launched a pilot program for newborn SMA screening in select regions of England, with potential nationwide expansion.

• In November 2023, Trivitron Healthcare launched "EkSahiShuruat," an initiative aimed at increasing awareness about newborn screening in India.