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The Importance of Newborn Screening: Ensuring Early Detection of Genetic Disorders

   May 11, 2024

There has been a rise in the prevalence of newborn screening due to the increasing number of congenital heart diseases and genetic disorders. Furthermore, the increasing neonatal population and the rising awareness of newborn screening have increased the use of newborn screening for multiple conditions. This article explores the rising demand for newborn screening in hospital and clinical settings and the advantages of early detection of several serious conditions to focus on its role in identifying the best screening technology to detect diseases.

Significance of Newborn Screening in Children and Parents

The concept of newborn screening was initially introduced in the early 1960s and was primarily used to detect rare inherited disorders called phenylketonuria (PKU). This simple blood test was used to identify pre-symptomatic newborns to avoid future complications and risks, help in health management, and improve the quality of life of babies in the future. The screening for newborns has progressed, increasing the number of conditions screened. The blood sample is usually collected from the heel of the baby, then retained on a screening card, and then processed using various technologies to diagnose diseases and conditions. Globally, around 7.9 million infants are born with serious congenital anomalies each year. According to the World Health Organization (WHO), 9 out of 10 children born with a serious congenital anomaly are generally from low- and middle-income countries. This makes the screening of newborns crucial. Governments in several countries have been introducing newborn screening programs and emphasizing educating parents regarding its importance.

While some of these programs have been made compulsory, other countries have no specific mandates but highly recommend these screening procedures to all new parents. Various screening technologies are conducted to diagnose disorders such as congenital heart diseases, inherited disorders, infectious diseases, and hearing disorders. The technologies include tandem mass spectrometry, pulse oximetry, immune, enzymatic, molecular assays, and hearing screeners.

The growth of the newborn screening market is attributed to the rising prevalence of congenital heart diseases and genetic disorders, the increasing neonatal population, and the rising awareness regarding newborn screening.

High Growth Potential in Emerging Economies

Initially, newborn screening was not prevalent in emerging economies or developing countries such as India, China, and Brazil. However, technological advancements and globalization in developing countries have led to newborn screening being made compulsory in certain Asian countries as well. For instance, newborn screening has been done in China for the past 30 years for PKU and congenital hypothyroidism. A study has also been conducted to screen fewer common conditions, such as Tetrahydrobiopterin deficiency (BH4D) and a less common type of hyperphenylalaninemia (HPA). This study was carried out for 107,078,115 newborns, out of which 380 were found to have BH4D deficiency. This condition’s prevalence was also higher in China's Eastern and Northern regions.

India has one of the highest infant mortality rates. According to UNICEF, the infant mortality rate in India was 30.6 per 1,000 live births in 2021. The government has a National Rare Disease Policy (NRDP), which mentions newborn screening as a secondary prevention, but there is no specific mandate, which increases the need to develop new policies. However, certain private hospitals in India, such as Apollo Hospitals, have been known to provide newborn screening for specific conditions. A pilot NBS Programme was initiated in the Udipi district of the Southern part of India to set up screening labs in the district, to spread awareness in people, and determine the incidence of congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), glucose-6-phosphate-dehydrogenase deficiency (G6PD), galactosemia (GALT), biotinidase deficiency (BTD), and phenylketonuria.

With these new standards and policies arising, the newborn screening market is well-positioned for optimal growth in India. The government is also likely to monitor the security, privacy, and quality requirements of products provided by companies in the newborn screening market due to the implementation of the NRDP.

Advancing Newborn Screening Through New Technologies

Conventionally, newborn screening has used traditional technologies such as tandem mass spectrometry or biochemical testing. These technologies are effective in screening newborns. However, the emergence of advanced technologies has improved the accuracy of results. Next-generation sequencing (NGS) and artificial intelligence (AI) are two of the most researched advanced technologies in the newborn screening industry. NGS technology enables the rapid and reliable sequencing of multiple genes simultaneously. This will help screen more disorders as compared to other technologies. The newborn screening for disorders using NGS will include techniques such as targeted gene panels, whole exome sequencing (WES), and whole genome sequencing (WGS). NGS technology also follows the standard Wilson and Jungner principles of newborn screening and identifies genes associated with treatable disorders.

A newborn genetic sequencing (NBGS) panel study based on multiplex PCR was conducted to check the feasibility of NGS technologies. This panel study was conducted on 4986 newborns to analyze 287 samples of previously known mutations. Out of the 4986 newborns, 118 had biallelic or hemizygous mutations, of which 36 were positive for the same disorders through NBGS and a conventional method. This showed that NGS, as an individual technology coupled with conventional methods, could identify more disorders and improve accuracy.

Another such technology that can be incorporated with conventional methods is artificial intelligence. A study was conducted at the Neonatal Disease Screening Center of the Maternal and Child Health Hospital in Shaoyang City (China) between 2016 and 2020. This was done to screen newborns for inborn errors of metabolism. In total, 96,648 newborns were enrolled, and an AI algorithm was used to analyze the screening results. According to the results, 1,988 newborns were screened, and 23 of them were confirmed to have an inborn error of metabolism. It was also observed that the occurrences of false positives could also be decreased by more than 24.9%, improving screening efficiency.

Unlocking Newborn Screening: Insights from Newborn Screening Market Analysis

Recent insights from Meticulous Research® provide valuable perspectives on the future trajectory of the Newborn Screening Market. Projections suggest a potential worth of $2.69 billion by 2031 driven by a remarkable Compound Annual Growth Rate (CAGR) of 7.8% from 2024 to 2031.

Significant trends are emerging due to the ongoing evolution of the newborn screening market. In 2024, the technologies used for newborn screening have emerged as an important aspect, propelled by the increasing prevalence of congenital heart diseases and genetic disorders. Additionally, government programs & legislation promoting newborn screening increase awareness among parents.

As the global landscape takes shape, the North American region is expected to hold a substantial market share in 2024. Notably, influential industry players, including Thermo Fisher Scientific Inc. (U.S.), PerkinElmer, Inc. (U.S.), Medtronic plc (Ireland), and Bio-Rad Laboratories, Inc. (U.S.), have established a broad presence across various regions, leading to the widespread adoption of their newborn screening worldwide. This comprehensive overview from Meticulous Research serves as a gateway into the newborn screening market.


The increase in the number of congenital heart disease and genetic disorder cases has led to an increase in the use of newborn screening across several countries. Additionally, newborn screening, backed by advanced technologies and government programs, is making it more significant and recognized.

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