Newborn Screening Market
Global Newborn Screening Market Overview
The Global Newborn Screening Market is projected to grow at a CAGR of approximately 6–8% by 2027, supported by rising birth defects worldwide, improvements in laboratory efficiency, expanding population bases, and increasing income levels in South-East Asia and other developing economies.
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Newborn screening plays a foundational role in early healthcare by detecting metabolic, hormonal, and genetic abnormalities at the earliest stages of life. This early identification allows timely clinical intervention, significantly reducing the likelihood of long-term complications and improving developmental outcomes.
These screening programs typically focus on disorders that are not outwardly visible during the neonatal period but are treatable when discovered early. Conditions most frequently assessed include congenital hypothyroidism (CH), Phenylketonuria (PKU), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), galactosemia (GAL), tyrosinemia type I (HT1), sickle cell anemia, G6PD deficiency, congenital hearing loss, and structural heart defects.
Screening is primarily facilitated using three essential diagnostic approaches.
Blood spot testing relies on established methods such as tandem mass spectrometry (MS/MS), bacterial inhibition assays, ELISA, fluorometric enzymatic testing, colorimetric approaches, and immunoradiometric assays.
Hearing evaluation is conducted using Automated Auditory Brainstem Response (AABR) or Otoacoustic Emissions (OAE) testing to identify potential auditory impairment.
Pulse oximetry measures the percentage of oxygen saturation in hemoglobin, assisting in early detection of critical congenital heart defects before symptoms appear.
Population Growth, Birth Defect Rates, and Favorable Policies Propel Market Expansion
Global demographic expansion is one of the strongest drivers for the newborn screening industry.
The world population is projected to reach roughly 9.7 billion by 2050, up from 8 billion in 2022, and improved access to primary healthcare has contributed significantly to global life expectancy, which rose from 46.5 years in 1950 to over 71 years in 2021.
Every year, an estimated 8 million infants worldwide are born with one or more birth defects.
According to the CDC, birth defects impact approximately 1 in every 33 newborns in the United States, representing nearly 3% of all annual births.
In the WHO South-East Asia Region, birth defects as a contributor to child mortality increased from 6.2% in 2010 to 9.2% in 2019, emphasizing the need for comprehensive newborn screening services.
Frequent severe congenital conditions include heart defects, Down syndrome, and neural tube defects, many of which stem from complex genetic, nutritional, infectious, or environmental interactions.
To address the rising incidence, governments and global health agencies are intensifying efforts to prevent, diagnose, and manage birth defects through national programs, routine screening, workforce development, and investment in diagnostic technologies.
Several developing countries are accelerating newborn screening adoption.
Brazil introduced legislation in 2021 mandating nationwide expanded newborn screening by June 2022, with ongoing inclusion of conditions like lysosomal storage diseases, immunodeficiencies, and spinal muscular atrophy.
Colombia, Chile, and Panama are actively expanding coverage from 70–80% of newborns to more than 90% while increasing the spectrum of screened conditions.
Next-Generation Sequencing (NGS) Emerges as a Transformational Driver
Next-Generation Sequencing (NGS) is gaining significant momentum in neonatal care and newborn screening, especially in high-income regions.
NGS enables the identification of rare and complex genetic disorders that may not be effectively captured through conventional biochemical assays alone.
The cost of whole-exome sequencing has fallen dramatically, with U.S.-based bioinformatics companies offering services for roughly $500–900 per sample.
Pilot initiatives are underway in the U.S., U.K., China, and other major economies to assess the feasibility and ethical considerations of integrating sequencing technologies into large-scale screening programs and neonatal intensive care units.
Despite its advantages, NGS adoption still faces notable obstacles.
NGS remains more expensive than conventional assays, particularly in resource-limited settings.
The complex data output requires specialized interpretation skills that are scarce in developing countries.
The technology still requires extensive validation due to limited historical data on newborn screening performance metrics.
Strategies Used by Market Leaders to Strengthen Market Position
As many newborn screening tests are well-established, industry growth is increasingly driven by capacity expansion, manufacturing optimization, and strategic mergers and acquisitions.
In August 2022, PerkinElmer divested its Applied, Food, and Enterprise Services businesses and signed a definitive agreement with New Mountain Capital for $2.45 billion to streamline its core operations.
In the same period, Trivitron Healthcare launched a new R&D and manufacturing complex in India dedicated to chemical-based assays, equipped to produce more than 300 million RT-PCR kits and over 100 million ELISA, CLIA, and NBS kits annually.
The market continues to see consolidation, technological refinement, and expansions that are creating robust competitive advantages.
China Holds the Largest Market Share, Followed by North America
China represents the largest newborn screening market globally, primarily due to the high volume of births and widespread governmental support for public health initiatives.
Although births decreased from 17.86 million in 2016 to 9.56 million in 2022, screening coverage remains exceptionally high, with nearly 93% of newborns undergoing testing.
Disparities exist between rural and urban settings, but the nation has continued expanding screening networks, infrastructure, and laboratory capabilities.
By the end of 2018, China had established approximately 238 newborn screening centers, with screening rates surpassing 97.5%.
The country’s comprehensive network—from sample collection and transport to diagnostics, reporting, clinical care, and long-term follow-up—has been integral to sustaining high penetration levels.
India, despite recording around 23 million births in 2022 and becoming the world’s most populous nation, lacks a unified national newborn screening program.
However, decreasing testing and lab costs, larger manufacturing capacities post-COVID, and economies of scale have made population-wide screening increasingly feasible across developing nations.
Many low- and middle-income countries already have localized screening initiatives, and ongoing government investments continue to expand access rapidly.
Competitive Landscape Analysis: Newborn Screening Market
Prominent companies operating in the global newborn screening market include the following:
SCIEX
Agilent Technologies Inc.
Bio-Rad Laboratories Inc.
Covidien Plc
GE Healthcare
PerkinElmer Inc.
Masimo Corporation
Natus Medical Incorporated
Trivitron Healthcare
Waters Corporation
Labsystems Diagnostics Oy
LifeCell International Pvt. Ltd
Archer DX
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