Original research•

Implementing and validating newborn screening for inborn errors of metabolism in South India: a 2-year observational study at a tertiary care hospital

Abstract

Introduction Newborn screening (NBS) is an essential public health initiative for early diagnosis of inborn errors of metabolism (IEM), where timely intervention can reduce morbidity and mortality. While routine in developed countries, NBS is not widely practised in India. This study aimed to implement NBS programme in a tertiary care hospital in South India and validate predetermined cut-off values tailored to the regional population.

Methods Between 2020 and 2022, 5157 neonates were screened for congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), glucose-6-phosphate dehydrogenase (G6PD) deficiency (G6PDD), phenylketonuria (PKU), galactosemia and biotinidase deficiency. Screening was performed using dissociation-enhanced lanthanide fluorescent immunoassay technology on Victor2D platform (Revvity). Markers assessed included 17-α-OH progesterone, neonatal thyroid stimulating hormone, total galactose, immunoreactive trypsinogen, G6PD enzyme, biotinidase enzyme and phenylalanine levels. Data analysis was conducted using R V.4.1.1 software.

Results Of the 5157 neonates, the recall rates were consistent with those reported in similar studies. However, only 26.7% of screen-positive newborns returned for retesting, indicating a significant gap in awareness about IEMs and the importance of follow-up. Of these, none were diagnosed with CAH; however, four were found to have CH, two had galactosemia, three had G6PDD, one had CF, one had PKU and none had biotinidase deficiency. The confirmed cases were promptly treated and monitored regularly. The distribution of each marker’s values fell within 2.5th–97.5th percentiles suggesting consistency.

Conclusion The reference ranges provided by the manufacturer appear valid in the Indian context. A key challenge identified was low follow-up compliance for screen-positive infants, highlighting the need for enhanced public education on IEM and NBS. Future research will focus on determining the incidence of IEMs and improving parental awareness and follow-up rates.

What is already known on this topic

  • Newborn screening (NBS) is a mandatory public health programme in most developed nations. In India, though it is not a public health programme, NBS is now being done in many of the tertiary care hospitals.

What this study adds

  • Setting up an NBS unit in a tertiary care hospital of a tier two city which is easily accessible to the rural areas and validation of reference ranges for the parameters used in NBS appropriate for the local population.

How this study might affect research, practice or policy

  • Create awareness, especially among the general population which is necessary for the successful implementation of the NBS programme.

Introduction

Inborn errors of metabolism (IEM) encompass a diverse array of hereditary genetic disorders that result from mutations occurring in distinct genes responsible for a range of metabolic and biochemical pathways.1 Individual IEMs are rare medical conditions, often characterised by an incidence of less than 1 per 100 000 births. When considered in its entirety, the incidence rate may range from approximately 1 in 800 to 1 in 2500 births.2 In India, the precise prevalence of IEMs remains unknown, but regional data—such as newborn screening (NBS) results from Andhra Pradesh—indicate a higher incidence, with 1 in 1000 newborns affected.1 If left untreated and improperly managed, IEM often leads to cognitive impairment, functional limitations and potentially fatal outcomes. Collectively, IEMs are a substantial cause of morbidity and mortality in paediatric population.3 Early diagnosis through NBS is essential for preventing such adverse outcomes. In India, it has been shown that approximately 4% of the population experiences mental retardation, whereas a range of 5%–15% of neonates who are sick exhibit symptoms of a metabolic disorder. Approximately one-third of paediatric mental impairment is believed to stem from the inability to identify metabolic disorders in newborns and young children. Therefore, by implementing early intervention, conducting follow-up procedures and providing counselling, NBS programme will effectively contribute to the prevention of disability and mortality.4 NBS programmes are designed to be comprehensive public health systems that encompass education, initial screening, follow-up on abnormal results, confirmatory testing, treatment and evaluation of outcomes.5 Globally, NBS has become a cornerstone of preventable healthcare, pioneered in the 1960s by Dr Robert Guthrie in the USA.6 However, despite being the most populous country in the world, India has yet to establish a nationwide NBS programme integrated into its health policy.7 On initial assessment, it may seem that the nation’s resources would be financially burdened. However, considering the substantial population of one billion individuals and the high birth rate, the potential impact of preventable metabolic disorders with long-term morbidity might be significant. The situation is compounded by the prevalence of consanguineous marriages in certain regions, which increases the likelihood of autosomal recessive disorders, leading to a higher incidence of IEMs compared with other countries.8 India’s early records of IEMs were primarily derived from testing children with intellectual disabilities or from newborns in tertiary referral centres or paediatric intensive care units. Although NBS for conditions like congenital hypothyroidism (CH) has long been recognised as necessary, widespread implementation remains limited.9 CH is a well-understood, easily identifiable and cost-effective condition to treat, making it an ideal candidate for NBS. Ramadevi et al. demonstrated the feasibility of condition-specific screening by examining the prevalence of glucose-6-phosphate dehydrogenase deficiency (G6PDD) among 5140 neonates, finding a deficiency rate of 7.8%.10 11 G6PDD, which affects around 1.5% of Indian newborns annually, is particularly prevalent in certain indigenous populations who also exhibit high rates of sickle cell anaemia.10 This makes G6PDD another important target for inclusion in universal screening efforts.9

Despite the promising results from targeted screening efforts, research on all treatable IEMs in India remains limited and a major challenge persists, that is, the lack of population-specific screening cut-off values. Currently, Indian laboratories often rely on cut-off values derived from Western populations, which may not be appropriate for the Indian demographic. Given the genetic and environmental differences between populations, it is crucial for each laboratory to define its own threshold values, either by percentiles or through normal ranges. This gap in the screening process highlights the need for studies that tailor NBS programmes to the Indian population. In response to these challenges, this study aims to introduce an NBS programme at a tertiary care hospital in South India. Specifically, the study seeks to validate the suitability of existing cut-off values for the South Indian population, taking into account varying gestational ages (GAs) and birth weights. By addressing these key issues, the study will contribute to the development of a more accurate and effective screening protocol for IEMs in India, ultimately reducing the burden of undiagnosed metabolic disorders.

Materials and methods

The establishment of an NBS unit was accomplished within the clinical biochemistry laboratory of a tertiary care hospital located in South India. The NBS unit was equipped with various instruments, including a dried blood spot puncher (Revvity), a fluorescence reader (Victor 2D Multilabel Counter, Revvity) with Wallac 1420 Workstation, plate washer (dissociation-enhanced lanthanide fluorescent immunoassay (DELFIA) washer-disk remover instrument, Revvity), shaker (DELFIA plate shaker, Revvity) and incubator (TriNEST incubator shaker, Revvity). In accordance with Wilson and Jungner’s framework for the selection of disorders for NBS, a comprehensive range of disorders including congenital adrenal hyperplasia (CAH), CH, galactosemia, cystic fibrosis (CF), G6PDD, biotinidase deficiency and phenylketonuria (PKU) were screened in all newborn infants delivered at the tertiary care hospital. The demographic card in which the information of the mother and the newborn is entered was developed in-house following consultations with paediatricians/neonatologist. Information pamphlets were disseminated to the parents of the newborn, who were then provided with an explanation of NBS in the vernacular language. The parents were provided with counselling regarding the importance and advantages of early screening and written informed consent was obtained prior to collecting the samples. Nurses underwent training for the acquisition of informed consent, collection of heel-prick samples, the completion of demographic cards and drying and the storage and transportation of such samples. A comprehensive screening was conducted for all the neonates delivered at the hospital. A total of 5157 neonates underwent screening during a biennial period spanning from 2020 to 2022. Blood samples obtained by heel prick were collected using Whatman 903 filter paper within a time frame of 24–48 hours following birth. A total of three to four circles on the filter paper were observed to be fully saturated with blood. The card was dried for at least 4 hours away from sunlight or any other external appliance before being sent to the laboratory for testing. The cards that were not shipped on the same day were stored within a temperature range of 2–8°C while being adequately protected from moisture. The cards that exhibited indications of moisture, the samples that were not fully saturated against the back of filter paper and the samples that displayed observable evidence of layering were all deemed unacceptable and were subsequently requested to be resampled. On an average, 2.5% of the samples were rejected per month based on sample rejection criteria with the most common cause being insufficient sample. This issue was addressed by conducting periodic training sessions for the people involved in sample collection.

The levels of 17-α-OH progesterone (17-OHP), neonatal thyroid stimulating hormone (nTSH), total galactose (TGAL), immunoreactive trypsinogen (IRT), G6PD enzyme, biotinidase enzyme and phenylalanine levels per blood were assessed using DELFIA technology. This analysis was conducted on the NBS unit Victor2D, manufactured by Revvity. The measurements were performed to evaluate the presence of CAH, CH, galactosemia, CF, G6PDD, biotinidase deficiency and PKU, respectively. The laboratory adopted the cut-off values for 17-OHP for CAH≥90 nmol/L, nTSH for CH>20 µIU/mL, TGAL for galactosemia>11 mg/dL, IRT for CF≥ 90 ng/mL, G6PD for G6PDD≤2 U/g Hb, biotinidase for biotinidase deficiency≤50 units and phenylalanine for PKU≥3 mg/dL and procured assay kits from Revvity. The principle of time-resolved fluoroimmunoassay was employed for the measurement of 17-OHP, TSH and IRT, whereas the principle of fluorimetry was used for the assessment of TGAL, G6PD, biotinidase and phenylalanine. The kits were supplied with quality control material, which was used in conjunction with each batch of samples. The validation of results was contingent on the control values falling within the prescribed range established by the manufacturer of the kit.

The newborns who had an initial screening result that was abnormal were recalled for a second round of screening. Following the initial screening, the recall rates were calculated. The neonates who had a normal second screen were reassured. The newborns who were screened positive during second screening were advised to consult the paediatrician and subjected to confirmatory testing. The action plan, once the results are released, has been depicted in the flowchart (figure 1).

Figure 1
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Figure 1

The flowchart of action plan, once the results are released.

Statistical analysis

The data was collected and organised in a spreadsheet using Microsoft Excel. Descriptive analysis was performed on the data using R V.4.1.1 software.

Results

The data set under analysis consisted of a total of 5157 neonates with almost equal distribution of boys and girls. Among all the neonates, it was observed that 29.2% of them were born before completing 37 weeks of gestation. Furthermore, 77.6% of these neonates exhibited a birth weight exceeding 2500 g. In addition, 21.8% of neonates had a birth weight ranging from 1500 to 2500 g, while a mere 0.6% of neonates had a birth weight below 1500 g. The demographic details of the neonates included in the study are shown in table 1.

Table 1
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Demographic details of the neonates

17-α-OH progesterone (17-OHP)

The median for 17-OHP values is slightly higher (9.5) with neonates born within 37 weeks of gestation as compared with the median (8.1) of neonates born at or more than 37 weeks of gestation. Mann-Whitney U test was done to assess the relationship between the distribution of GA over 17-OHP screen-positive result which was found to be statistically significant with a p value of <0.001. With the cut-off value for 17-OHP set at ≥90 nmol/L, a total of 5146 neonates were examined; of these, 15 (0.29%) neonates had elevated levels of 17-OHP. The threshold lies within the range of the 99.7th and 99.8th percentile.

Thyroid stimulating hormone (TSH)

Out of the 4675 neonates screened, with the cut-off value for TSH greater than 20 µIU/mL, 53 (1.15%) neonates had elevated TSH levels. The threshold lies within the range of the 98.8th and 98.9th percentile.

Total galactose (TGAL)

With the cut-off value for TGAL set at >11 mg/dL, a total of 5137 neonates were examined; of these, 57 (1.12%) neonates had elevated levels of TGAL. The threshold lies within the range of the 98.8th and 98.9th percentile.

Immunoreactive trypsinogen (IRT)

Out of the 5147 neonates who were examined, 43 (0.84%) neonates exhibited elevated levels of IRT, with the cut-off value for this compound being established at ≥90 ng/mL. The threshold lies within the range of the 99.1st and 99.2nd percentile.

Glucose-6-phosphate dehydrogenase (G6PD)

Out of the 5146 neonates screened, with the cut-off value for G6PD≤2 U/g Hb, 51 (1.01%) neonates were screened positive. The threshold lies within the range of the 1.0th and 1.1st percentile.

Biotinidase

With the cut-off value for this compound being established at ≤50 units, 6 (0.13%) of the 5147 neonates who were examined were screened to be positive for biotinidase deficiency. The threshold lies within the range of the 0.1st and 0.2nd percentile.

Phenylalanine

Out of the 5145 neonates who were examined, 51 (1.01%) neonates exhibited elevated levels of phenylalanine, with the cut-off value for this compound being established at ≥3 mg/dL. The threshold lies within the range of the 98.9th and 99.0th percentile. The established cut-off values for all the seven parameters categorised by GA and birth weight are given in online supplemental table 1.

All the markers have their cutoffs placed above the 98th percentile. G6PD and biotinidase have their cutoffs placed below the 2nd percentile. The overall recall rate for all the seven parameters (17-OHP, nTSH, TGAL, IRT, G6PD, biotinidase and phenylalanine) among the screened newborns was 5.55%. The individual recall rates for each parameter were as follows: 0.29% for 17-OHP, 1.15% for nTSH, 1.12% for TGAL, 0.84% for IRT, 1.01% for G6PD, 0.13% for biotinidase and 1.01% for phenylalanine. Among the screen-positive newborns, only 26.7% (74 newborns) returned for follow-up retesting. Of these, none were diagnosed with CAH; however, four were found to have CH, two had galactosemia, three had G6PDD, one had CF, one had PKU and none had biotinidase deficiency. All confirmed cases were promptly initiated on appropriate treatment regimens and are being closely monitored through follow-up care by the paediatrics department. Table 2 summarises the method used for each parameter and the corresponding recall rates.

Table 2
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The method and recall rates for each parameter

Discussion

Congenital adrenal hyperplasia

The global prevalence of CAH varies between 1 in 10 000 and 1 in 20,000.12 In India, the incidence is higher, estimated to be 1 in 4591 live births.13 In the current study, the recall rate for CAH was 0.29%. Our study revealed that neonates with low birth weight (LBW) and GA of less than 37 weeks had a higher likelihood of testing positive on screening, indicating that the level of maturity may contribute to elevated 17-OHP levels. Research conducted in South India supports this observation, showing that prematurity significantly increased mean 17-OHP levels from 4.86±2.47 to 8.97±7.43 ng/mL. The median 17-OHP levels also rose from 4.5 to 6.3 ng/mL in preterm neonates.14 The levels of 17-OHP are influenced by factors such as maturity, stress, maternal steroid administration, age and birth weight.15 The screening of CAH exhibits a significant incidence of false positive results, particularly in preterm and LBW infants. To improve the accuracy of CAH screening, it has been recommended that the 17-OHP cut-off values be adjusted based on GA and the age at sample collection.16 Such modifications may reduce the high false-positive rates observed in neonatal CAH screening.

Congenital hypothyroidism

Globally, the prevalence of CH is estimated to be between 1 in 3000 and 1 in 4000 live births.17 However, a recent study conducted in India revealed a significantly elevated incidence rate of 1 in 811 newborns affected.13 Despite being recognised as one of the successful programmes globally, India has not yet implemented NBS for CH as a countrywide screening programme. In the present study, a total of 4675 infants were subjected to testing, with 53 infants recalled for retesting. According to the American Academy of Pediatrics, there is a strong recommendation to conduct CH testing after 24 hours of life (preferably between 48 and 72 hours) and before hospital discharge or within the first week of life, whichever is sooner.18 This timing is crucial as it allows for the normalisation of the TSH surge that typically occurs shortly after birth. However, it is important to acknowledge that there are situations in which adhering to this recommendation becomes exceedingly challenging due to early discharge policies implemented globally.3 Early discharge can lead to delayed or missed screening, potentially impacting the timely diagnosis and treatment of CH.

Galactosemia

Classical galactosemia is a potentially life-threatening autosomal recessive IEM that is estimated to affect approximately 1 in every 30 000 to 1 in every 60 000 live births in both the USA and globally.19 There is a limited amount of available data regarding the prevalence of galactosemia within the Indian population. A recent study conducted in Manipal, Karnataka, examined a cohort of 2680 neonates for galactose-1-phosphate uridyltransferase (GALT) activity and detected two cases revealing an incidence rate of 1 in 1340 live births.13 The data obtained in our study exhibited a recall rate of 1.12%. Two primary biochemical markers are used for the detection of galactosemia: TGAL and GALT enzyme activity. TGAL measures the overall levels of galactose in the blood, capturing both classical galactosemia and variants affecting galactose metabolism. However, TGAL can yield false positives, particularly due to transient elevations caused by dietary influences. In contrast, GALT measures the activity of the GALT enzyme directly and is more specific for diagnosing classical galactosemia. However, it may miss milder or atypical cases, if GALT activity is not significantly reduced.

Cystic fibrosis

CF has an incidence rate of 1 in 2000 live births among individuals of European descent, varying between countries due to ethnic differences. In the USA, the prevalence is 1 in 4000, with significant ethnic disparities.20 Among immigrants from the Indian subcontinent in the UK and the USA, the prevalence ranges from 1 in 10 000 to 1 in 40 000 live births.21 The two CF NBS methods used in Western regions are IRT–DNA and IRT–IRT–DNA. Elevated IRT in the first week of life is a sensitive indicator but does not confirm CF. The sweat chloride test is crucial for confirming CF in newborns who test positive through NBS. In India, there are no established CF NBS protocols, and the cost and availability of CFTR mutation testing limit its use. Our investigation showed a recall rate of 0.84%, but comprehensive data on the incidence of CF in the Indian population is limited.

G6PD deficiency

Globally, G6PDD affects 200–400 million individuals.22 Mass NBS for G6PDD is debated, with limited adoption mainly in Asia and Latin America. Many countries, including affluent ones like Sweden, do not include it in standard screening due to its variable clinical presentation and natural history.23 In our investigation, the recall rate for G6PDD was 0.84% which is consistent with the recall rates in other studies.3 13 About 390 000 infants in India are born annually with G6PDD, predisposing them to hemolytic anaemia if not screened.24 Prevalence rates vary widely across castes, tribes and ethnic groups, ranging from less than 1% to 28%.3 For example, Goa’s ‘Heel to Heal’ initiative identified 33 cases of G6PDD among 27 578 screened infants, underscoring the importance of regional screening initiatives.25

Biotinidase deficiency

When the serum biotinidase enzyme activity falls below 10%, the defect is categorised as profound. If the activity is between 10% and 30% of the mean serum activity calculated for the overall population, it is classified as partial.26 The findings of our investigation, which encompassed a sample size of 5147 neonates, indicated a recall rate of 0.13%. Currently, majority of states within the USA, as well as several countries globally, engage in the practice of performing NBS for biotinidase deficiency. Limited research has been conducted to ascertain the prevalence of biotinidase deficiency in India. A recent study conducted in India involving 2949 newborns detected two positive cases, highlighting the need for broader screening initiatives.13

Phenylketonuria

According to the data from Western nations, the incidence of PKU is approximately 1 in 10 000 live births. It has been shown that Caucasians have a higher frequency of PKU compared with other ethnic groups.27 According to a recent study conducted to estimate the global prevalence of classic PKU using NBS, the pooled prevalence was found to be 6.002 per 100 000 neonates.28 Due to its very low prevalence and the absence of routine NBS practices in India, there is a lack of accurate statistical data pertaining to this illness. A recent study conducted in Bangalore examined the prevalence of PKU in NBS and reported an incidence rate of 1 in 20 513.29 This highlights the need for further research and potential expansion of NBS programmes in regions where PKU is underdiagnosed.

Notably, the Indian Council of Medical Research recognised the significance of NBS in early detection and management of IEM. From 2008 to 2013, they launched a pilot multicentric programme aimed at prospectively screening 100 000 newborns for two specific disorders: CH and CAH. This programme was conducted in five metropolitan cities, namely, Chennai, Delhi, Hyderabad, Kolkata and Mumbai, with a small rural component included.30 Such comprehensive multicentric programmes should be strategically designed and implemented to accurately determine the true prevalence of the major IEMs. Numerous studies have been conducted to determine the prevalence rates of CH, CAH and G6PDD, whereas the available data on PKU, biotinidase deficiency, CF and galactosemia is currently limited. Therefore, it is crucial to prioritise these IEMs and conduct comprehensive research throughout all regions of the country to ascertain their prevalence rates.

In our study, the recall rates were consistent with those reported in other studies. Among the screen-positive newborns, although 96% of the parents responded to phone calls, only 26.7% (74 newborns) of them returned for retesting. Follow-up compliance was hindered by several factors, including cultural beliefs in traditional or complementary medicine, a lack of family history of IEMs, preferences for treatment at other hospitals, financial constraints and logistic issues such as transportation. Many parents also cited the belief that their baby appeared healthy, which led them to forgo follow-up testing. A significant barrier to effective follow-up was the widespread lack of awareness about IEMs, particularly in rural areas. Many parents were unaware that most IEMs are recessive disorders, often with symptoms manifesting later in life. This gap in knowledge underscores the need for targeted educational efforts aimed at increasing awareness about IEMs among families, healthcare providers and communities. Enhanced understanding of these conditions could lead to better compliance with follow-up protocols, ultimately improving early detection, diagnosis and management of IEMs.

The primary objective of this observational study was to assess the feasibility of the NBS programme, acquire first-hand experience in its implementation and establish a conceptual foundation for potential future large-scale programmes. The efficacy of NBS in addressing rare diseases may not be easily ascertainable without rigorous and comprehensive investigations, particularly during the test’s developmental or formative stages. Due to lack of awareness stemming from various reasons mentioned above, a significant proportion of newborns did not return for retesting. Consequently, the true positive rate and incidence of individual IEMs could not be determined.

One key finding of our study was that the cut-off levels for screening tests, as provided by the manufacturer, aligned with those determined by our study. While this suggests consistency, it also underscores the importance of validating these cutoffs within the specific context of the Indian population. Establishing these cutoffs is essential for ensuring the effectiveness of NBS programmes and highlights the need for ongoing discussions about public health policies that support early detection and intervention for IEMs. Furthermore, our findings can serve as a foundation for community education initiatives. Understanding the validity and reliability of these cutoffs can enhance awareness among healthcare providers and the public, ultimately promoting better screening practices and improving health outcomes for newborns.

Determining the marker levels in screening tests is essential for identifying individuals at risk of IEM and highlights the need for comprehensive healthcare strategies. Elevated markers can pinpoint populations, such as those with high rates of consanguinity, that are more susceptible to these disorders. This necessitates the development of targeted genetic counselling and community interventions to address the risks associated with close blood relationships. Furthermore, enhancing laboratory diagnostic capacities ensures accurate and timely identification of IEMs, enabling early intervention. Increasing awareness and understanding of IEM management strategies among healthcare providers and the community is crucial for improving outcomes and quality of life for affected individuals.

Limitations

The parents of infants who were tested positive on the initial screening were requested to undergo retesting; however, a significant proportion of them did not comply with the request due to reasons stated above. Consequently, the retesting process for validating screen-positive results was compromised, limiting the study’s ability to accurately confirm the true positive cases. As a result, the screening sensitivity and positive predictive value were not determined. We plan to address this in our future studies.

Future directions

Given that a significant portion of the population resides in rural areas, our future efforts will focus on increasing awareness of IEMs and the importance of NBS. We plan to implement a multifaceted outreach strategy, which includes the distribution of educational brochures, press release and patient stories. Additionally, we will set up booths at community events and organise parental education initiatives to directly engage with the public. To further extend our reach, we intend to hold targeted events for healthcare professionals, including paediatricians, general practitioners and midwives, to ensure they are well informed about the importance of NBS and early diagnosis of IEMs. These events will aim to foster collaboration among healthcare workers in both urban and rural settings.

Based on our experience and the data gathered from our current study, future research endeavours will focus on improving the follow-up process for screen-positive newborns. This will involve developing systematic follow-up protocols to ensure that infants who test positive during the screening process receive timely and appropriate retesting and care. Furthermore, we plan to undertake larger-scale studies to accurately determine the prevalence of treatable IEMs in different regions of the country, with a special focus on populations that may be at higher risk due to genetic or socioenvironmental factors. These initiatives are designed to address both the gaps in awareness and the logistical challenges of follow-up, ultimately improving early detection and management of treatable IEMs across India.

Conclusion

In conclusion, raising public awareness about IEMs through media campaigns and healthcare provider education is vital for reducing the physical and mental burdens associated with these conditions. Enhanced co-ordination among paediatricians, geneticists, medical professionals and parents is needed to establish an efficacious neonatal screening programme that might potentially serve as a prototype for other developing countries, such as India. Current studies on IEMs often focus on high-risk populations, introducing potential bias and highlighting the need for unbiased, population-based research. To accurately assess the prevalence of IEMs in India, a universal and expanded screening programme is needed, covering both institutional and home births.

Despite the lack of a national policy on NBS, India’s high birth rate and the success of other national healthcare campaigns, such as vaccination programmes, provide an opportunity to develop a comprehensive NBS strategy. Policymakers should prioritise improving laboratory diagnostic capacities and community interventions to address consanguinity risks and increasing public awareness of IEM management strategies. It is crucial to understand that NBS is an ongoing programme that requires integrated care pathways to ensure successful early diagnosis, treatment and long-term management.

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