Silent Threats At Birth: Screening For Prevelance Of Congenital Hypothyroidism And G6PD Deficiency In The Malwa Region Of Punjab

New Born Screening (NBS) is the practice of testing every infant for dangerous or potentially fatal diseases that are else not apparent at birth. Beforehand discovery and prompt treatment can make the difference between healthy development or lifelong impairment and possible death. Utmost common New Born diseases in India are Prematurity, Respiratory Dysfunction, natural Deformations, Neonatal Infections & Haemolytic

conditions of Newborn.[1]

Congenital Hypothyroidism (CHT) is defined as thyroid hormone deficiency present at birth, which could be moreover due to absent or underdeveloped thyroid gland (Dysgenesis) or because of deficient hormone conflation in a well- developed thyroid gland (Dyshormonogenesis). CHT must be diagnosed instantly because detention in treatment can lead to unrecoverable neurological poverties. NBS styles have led to earlier opinion and treatment of CHT performing in bettered neurodevelopmental issues. The thyroid gland secretes the hormones T3 & T4 under the influence of TSH. The thyroid hormones play an essential part in energy metabolism, growth and neurodevelopment. Specifically, it acts on neuronal isolation, synapsis development, & myelination in antenatal & invigorated period, regulating CNS development.[2]

G6PD insufficiency- Glucose-6-phosphate-dehydrogenase insufficiency is one of the commonest mortal enzymopathies, caused by inherited mutations of the X- linked gene G6PD. Being X-linked it is more common in males. G6PD insufficiency makes the red blood cells largely vulnerable to oxidative damage, and increased vulnerability to haemolysis. utmost people remain asymptomatic throughout their continuance; still, numerous may develop acute and occasionally veritably severe. Haemolytic Anaemia, when ‘touched off’ by ingestion of Fava sap, or by several medicines (for e.g. Primaquine, Rasburicase) or infrequently by infection. Acute Haemolytic Anaemia can be managed effectively handed it is instantly diagnosed. [3] Symptoms of Acute Haemolysis associated with G6PD Deficiency include Jaundice, Abdominal/ Back Pain, Fatigue, Haemoglobinuria, Haemolytic Anaemia. [4] This study is planned to screen the babies for these 2 diseases, that is, CHT and G6PD Deficiency & give a detailed description of the results attained. We hope this study can give meaningful information for unborn exploration and eventually contribute to timely and better clinical operation of newborn babies harbouring these diseases.

This study is a type of descriptive cross-sectional Study. It was done by Department of Biochemistry in collaboration with the Department of Paediatrics in a tertiary care centre in Malwa region of Punjab. All newborns born in the Labour Room/Operation Theatre of tertiary care hospital and all newborns admitted to the Paediatric Department of the tertiary care centre less than 14 days were included with proper informed consent. Incidence of these disorders was calculated based on the results obtained between the timeline of 4.5 months. Newborns who have received blood transfusion were excluded in the study. Fresh Venous Blood Samples of the newborns were collected. For thyroid profile estimation- plain vials were used and for G6PD estimation- EDTA vials were used.^[5] Venous Sample were taken from Day 3 – Day 5 of life.[6] In newborns who were admitted on greater than 5th day and less than 14th day in the hospital their venous Samples were taken on the respective date of admission.  Blood samples were processed in the Biochemistry laboratory for the following parameters: 

 

Name Of The Parameters/ Method(S) Used/ Instruments Used   

·          T3, T4 –COMPETITIVE CHEMILUMINESCENCE IMMUNOASSAY ^[7] on instrument MAGLUMI SNIBE

·          TSH- SANDWICH CHEMILUMINESCENCE IMMUNOASSAY [8] on instrument MAGLUMI SNIBE   

·          G6PD LEVELS (QUANTITATIVE)- KINETIC ^[9] on instrument LABSYSTEM DIAGNOSTICS CLINICAL CHEMISTRY ANALYSER ^[9]

    

The ones who were screened positive for Congenital hypothyroidism were confirmed by a Confirmatory test by collecting their venous sample within 2 weeks.[10]     The results obtained were assessed quantitatively for any possible deficiency (out of the 2 mentioned i.e. CHT and G6PD Deficiency) for each newborn.  The parents were counselled regarding the purpose of the study, to find out CHT & G6PD deficiency and hence early management of the same. Proper confidentiality of reports was maintained with respect to each newborn enrolled. 

 

Statistical Analysis:  Descriptive analysis of various parameters mentioned in the study was done and the percentage deficiency of the two disorders was calculated via Microsoft Excel and Epi info.

A total of 258 newborns were enrolled in the study over a period of 4.5 months. Blood samples were collected for quantitative estimation of T3, T4, TSH, and G6PD, and relevant demographic and perinatal data were obtained from the mother or accompanying attendant. After completion of data collection, the compiled data were analyzed and the following results were obtained.

 

Table I: Distribution Of Neonates On The Basis Of Various Gestational Parameters

 

The screening was done randomly (prior number was not fixed number for males and females) and total of 258 newborns were screened and on analysis it showed that there were 48% males and 52% females. The gestational age was asked to look for any relation whether these disorders are more in preterm born babies as compare to term babies. But no such pattern was seen.  Birth weight was also measured to see whether these babies have low or high birth weight. But maximum number of newborns were having normal birth weight which showed that these congenital disorders have no relation with birth weight. The mode of delivery also had no relation with the congenital disorders.  

 

Table II: Mean ±Sd Of Various Thyroid Parameters And G6PD

 

T3, T4, TSH, and G6PD levels were analyzed in all neonates, and their mean ± standard deviation values were calculated. The majority of neonates had values within the reference range for age.

 

Table III: Distribution of Neonates (Number and Percentage) Having G6PD Deficiency and Congenital Hypothyroidism on the Basis of Gender

 

Neonatal screening for common metabolic and inherited disorders is a cornerstone of neonatal care, as early identification and timely intervention can prevent intellectual and physical disabilities and potentially life-threatening complications. The spectrum of disorders screened varies across countries based on prevalence, available resources, and public health priorities. In many high-income countries, including the United States and parts of Europe, universal newborn screening for 40–50 metabolic and genetic disorders is mandatory. Although resource-intensive, the benefits of such programs far outweigh the costs by significantly reducing neonatal morbidity and mortality [11].

 

In India, neonatal screening is recommended for selected conditions, including congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), and glucose-6-phosphate dehydrogenase (G6PD) deficiency [12–19]. Several Indian studies and programs have demonstrated the feasibility and importance of such screening. Augustine et al. [12] and Paul [13] reported the effectiveness of neonatal hearing screening programs in Southern India, emphasizing early detection to prevent long-term deficits. The ICMR Multicentric Study highlighted challenges and successes in screening for CH, CAH, and high-risk infants across India, providing a framework for national-level implementation [14]. Gopalakrishnan et al. [15] demonstrated that screening for CH, galactosemia, and biotinidase deficiency in Uttar Pradesh identified infants requiring early intervention, underscoring the regional need for structured programs. Kaur [16] and Mukhopadhyay & Balachandran [17] emphasized the critical importance and challenges of universal newborn screening in India, including infrastructure, resource allocation, and parental awareness. Verma et al. [18] conducted a prospective study on G6PD deficiency in neonates, reporting variable prevalence based on region and ethnicity. Rama Devi & Naushad [19] reviewed newborn screening programs in India, stressing the urgent need to expand coverage and improve follow-up mechanisms.

 

In the present study, 258 neonates were screened, comprising 124 males (48.1%) and 134 females (51.9%). Data on gestational age, birth weight, and mode of delivery were collected, but no apparent association was observed between these perinatal factors and the occurrence of CH or G6PD deficiency. This is consistent with the nature of inborn metabolic disorders, which are primarily determined by genetic and enzymatic factors, rather than perinatal characteristics.

 

The prevalence of congenital hypothyroidism in this study was 0.7% (2/258 neonates), while G6PD deficiency was also 0.7% (2/258 neonates). These findings differ from the study by Verma et al., which reported a birth prevalence of 1 in 2,000 for CH, 1 in 2,500 for CAH, and 1 in 125 for G6PD deficiency [20]. Similarly, Kumari et al. screened 369 neonates and identified one case of elevated TSH, six males with raised 17-OHP, and no cases of G6PD deficiency, highlighting regional variation in prevalence [21]. Patel et al. reported elevated TSH in 1.6% of neonates and G6PD deficiency in 2.6%, with confirmatory tests identifying 4 cases of CH (3.1 per 1,000) and 8 cases of G6PD deficiency (6.2 per 1,000) [22]. Compared to these studies, the prevalence of CH observed in the current study is slightly higher, potentially reflecting regional differences, iodine deficiency, or environmental and genetic factors.

 

One possible explanation for the elevated prevalence of CH in this region is iodine insufficiency, which persists despite the Universal Salt Iodization Program. Low iodine content in the soil and locally cultivated vegetables contributes to suboptimal intake, increasing the risk of thyroid dysfunction. Additional contributing factors include autoimmune thyroid disorders, genetic predisposition, maternal and environmental stress, and lack of awareness, which may delay diagnosis and treatment.

 

Although the study detected only a small number of affected neonates, it underscores the importance of early neonatal screening. Timely identification allows for prompt interventions, such as L-thyroxine therapy for CH and avoidance of precipitating drugs or foods in G6PD-deficient neonates, thereby preventing long-term complications like developmental delays, cognitive impairment, or hemolytic crises. Parental counseling regarding disease management and lifestyle precautions is a critical component of screening programs.

 

Drawbacks of the Study

1.        The sample size was relatively small, limiting generalizability. Future studies should include larger, multicentric cohorts.

2.        Screening was limited to CH and G6PD deficiency; inclusion of additional metabolic and enzymatic disorders could provide a broader understanding of neonatal health in the region.

India continues to bear a significant burden of congenital hypothyroidism and G6PD deficiency, yet awareness and screening coverage remain limited, leading to preventable complications. The prevalence of G6PD deficiency varies among ethnic groups, emphasizing the need for region-specific research to guide targeted screening and management. Expanding newborn screening programs and developing affordable, scalable strategies, especially in rural and underserved areas, can significantly reduce long-term healthcare costs. Strong epidemiological data are essential to drive policy changes, integrate universal neonatal screening into national health programs, and ensure early diagnosis and treatment. Further research should also evaluate long-term developmental outcomes, dietary and environmental risk factors, and maternal health influences to improve preventive strategies and treatment protocols in India.

 

Implications of the Study

Early identification of CH and G6PD deficiency allows for timely interventions, preventing long-term complications such as developmental delays, intellectual disability, or life-threatening hemolytic anemia. Screening programs increase community awareness, empower parents and caregivers, and provide guidance on disease management, including dietary precautions and medication avoidance. For CH, proper L-thyroxine administration and follow-up monitoring are essential to ensure favorable neurodevelopmental outcomes. Overall, neonatal screening enhances child health, reduces preventable morbidity, and improves the quality of life for affected infants.

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