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Preliminary Report on Neonatal Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Glucose-6-Phosphate Dehydrogenase Deficiency: A Chandigarh Experience

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Abstract

Objective

To establish newborn screening in Indian scenario that could lay a framework for future such initiatives. Three disorders namely, congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH) and glucose-6-phosphate dehydrogenase deficiency (G-6-PDD) were selected for a preliminary study for newborn screening.

Methods

Heel-prick blood samples were collected from live-born neonates at 24–48 h of birth as a part of a screening program after prior written consent from the parents. Blood levels of glucose-6-phosphate-dehydrogenase enzyme (G-6-PD), thyroid-stimulating hormone (TSH) and 17-α-OH progesterone (17-OHP) were measured using DELFIA time resolved fluoroimmunoassay.

Results

Six thousand eight hundred and thirteen (6,813) neonates (86.3%), out of a total of 7,893 live births in our institute during the period May’2007 through July’2009, were screened for CAH, CH and G6PD deficiency. Major reason for missing samples was early discharge of the neonates and admission to the neonatal intensive care unit. G-6-PD deficiency was confirmed in 61 cases, congenital hypothyroidism (CH) in 2 cases and congenital adrenal hyperplasia (CAH) in 1 neonate, accounting for an incidence of 1/112 for G-6-PDD, 1/ 3400 for CH and 1/6813 for CAH.

Conclusions

Preliminary data on prevalence of various genetic disorders viz. G-6-PDD, CH and CAH in the population of this region revealed that G-6-PDD is most prevalent disorder followed by CH and CAH. More efforts need to be undertaken to create awareness and emphasis on significance of preventive testing to make screening a successful program in India.

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Acknowledgement

The authors would like to acknowledge the complete financial assistance extended by Chandigarh Administration for this study. All neonates were screened free of cost.

Contributions

Kaur G: Design and plan of the study.

Srivastav J: Data Analysis, Calculation of prevalence and Preparation of manuscript.

Jain S: Neonatologist responsible for follow-up and management of high risk neonates.

Chawla D: Neonatologist responsible for follow-up and management of high risk neonates.

Chavan B.S: Design and plan of the study

Atwal R: Biochemical analysis of 17α-OH Progesterone, neonatal TSH and G6PD.

Randhawa G: Pre-test counseling to all parents signifying the importance of screening and consent taking in prescribed Performa.

Kaur A: Pre test counseling to all parents signifying the importance of screening and consent taking in prescribed Performa.

Prasad R: Evaluation of data and preparation of final manuscript.

Conflict of interest

None

Role of funding source

To establish neonatal screening program in a government organization to identify metabolic disorders in asymptomatic phase and prevent associated physical and mental handicap.

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Authors and Affiliations

  1. Genetic Centre, Government Medical College & Hospital, Sector 32, Chandigarh, India, 160031

    Gurjit Kaur, Jyoti Srivastav, Bir S. Chavan, Rajiv Atwal, Gurpreet Randhawa & Avneet Kaur

  2. Department of Pediatrics, Government Medical College & Hospital, Chandigarh, India

    Suksham Jain & Deepak Chawla

  3. Department of Biochemistry, Postgraduate Institute of Medical Education and Research, Chandigarh, India

    Rajendra Prasad

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  1. Gurjit Kaur
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  2. Jyoti Srivastav
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  5. Bir S. Chavan
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  6. Rajiv Atwal
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  7. Gurpreet Randhawa
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  8. Avneet Kaur
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  9. Rajendra Prasad
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Correspondence to Gurjit Kaur.

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Kaur, G., Srivastav, J., Jain, S. et al. Preliminary Report on Neonatal Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Glucose-6-Phosphate Dehydrogenase Deficiency: A Chandigarh Experience. Indian J Pediatr 77, 969–973 (2010). https://doi.org/10.1007/s12098-010-0150-x

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