Newborn screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency in Bihar: A pressing priority in today's time
Background and Objective: Newborn screening (NBS) aims towards early detection of congenital disorders or prevention of intellectual and physical defects and life-threatening illness. Three disorders namely congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH) and glucose-6-phosphate...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2023-01-01
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| Series: | Journal of Family Medicine and Primary Care |
| Subjects: | |
| Online Access: | http://www.jfmpc.com/article.asp?issn=2249-4863;year=2023;volume=12;issue=12;spage=3332;epage=3338;aulast=Kumari |
| _version_ | 1797232682025877504 |
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| author | Bandana Kumari Khushboo Raj Sadhana Sharma Sushil Kumar Bhabesh K Chowdhry Amit Kumar |
| author_facet | Bandana Kumari Khushboo Raj Sadhana Sharma Sushil Kumar Bhabesh K Chowdhry Amit Kumar |
| author_sort | Bandana Kumari |
| collection | DOAJ |
| description | Background and Objective: Newborn screening (NBS) aims towards early detection of congenital disorders or prevention of intellectual and physical defects and life-threatening illness. 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 NBS. The study aimed to establish NBS in the Indian scenario that could lay a framework for future such initiatives. Methods: A screening programme was conducted at a tertiary care hospital for 1 year. All the neonates born at All India Institute of Medical Sciences (AIIMS), Patna, were screened for their blood levels of glucose-6-phosphate dehydrogenase (G-6-PD), 17-hydroxyprogesterone (17-OHP) and thyroid-stimulating hormone (TSH). Heel-prick blood samples were collected within 48–72 h of birth, and the level of these parameters was accessed by enzyme immunoassay (EIA). Results: A total of 492 neonates were born from January 2020 to December 2020, of which 369 newborns were screened for CAH, CH and G-6-PDD. Of 369 neonates, one case (male) had an increased level of TSH, six cases (all males) had an increased level of 17-OHP and no case was found with G-6-PDD. Interpretation and Conclusions: Preliminary data on the prevalence of various genetic disorders revealed that CAH is the most prevalent disorder followed by CH in the population of Bihar. More efforts need to be undertaken to create awareness and to make screening a successful programme in India. A cost-effective nationwide screening programme is highly recommended for the detection of such cases at the earliest to avoid their future complication. |
| first_indexed | 2024-04-24T16:04:09Z |
| format | Article |
| id | doaj.art-96aab0456b7544449d08b9c988228f70 |
| institution | Directory Open Access Journal |
| issn | 2249-4863 |
| language | English |
| last_indexed | 2024-04-24T16:04:09Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Family Medicine and Primary Care |
| spelling | doaj.art-96aab0456b7544449d08b9c988228f702024-04-01T06:00:31ZengWolters Kluwer Medknow PublicationsJournal of Family Medicine and Primary Care2249-48632023-01-0112123332333810.4103/jfmpc.jfmpc_1029_23Newborn screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency in Bihar: A pressing priority in today's timeBandana KumariKhushboo RajSadhana SharmaSushil KumarBhabesh K ChowdhryAmit KumarBackground and Objective: Newborn screening (NBS) aims towards early detection of congenital disorders or prevention of intellectual and physical defects and life-threatening illness. 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 NBS. The study aimed to establish NBS in the Indian scenario that could lay a framework for future such initiatives. Methods: A screening programme was conducted at a tertiary care hospital for 1 year. All the neonates born at All India Institute of Medical Sciences (AIIMS), Patna, were screened for their blood levels of glucose-6-phosphate dehydrogenase (G-6-PD), 17-hydroxyprogesterone (17-OHP) and thyroid-stimulating hormone (TSH). Heel-prick blood samples were collected within 48–72 h of birth, and the level of these parameters was accessed by enzyme immunoassay (EIA). Results: A total of 492 neonates were born from January 2020 to December 2020, of which 369 newborns were screened for CAH, CH and G-6-PDD. Of 369 neonates, one case (male) had an increased level of TSH, six cases (all males) had an increased level of 17-OHP and no case was found with G-6-PDD. Interpretation and Conclusions: Preliminary data on the prevalence of various genetic disorders revealed that CAH is the most prevalent disorder followed by CH in the population of Bihar. More efforts need to be undertaken to create awareness and to make screening a successful programme in India. A cost-effective nationwide screening programme is highly recommended for the detection of such cases at the earliest to avoid their future complication.http://www.jfmpc.com/article.asp?issn=2249-4863;year=2023;volume=12;issue=12;spage=3332;epage=3338;aulast=Kumaricongenital adrenal hyperplasiacongenital hypothyroidismglucose-6-phosphate dehydrogenase deficiencynewborn screening |
| spellingShingle | Bandana Kumari Khushboo Raj Sadhana Sharma Sushil Kumar Bhabesh K Chowdhry Amit Kumar Newborn screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency in Bihar: A pressing priority in today's time Journal of Family Medicine and Primary Care congenital adrenal hyperplasia congenital hypothyroidism glucose-6-phosphate dehydrogenase deficiency newborn screening |
| title | Newborn screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency in Bihar: A pressing priority in today's time |
| title_full | Newborn screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency in Bihar: A pressing priority in today's time |
| title_fullStr | Newborn screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency in Bihar: A pressing priority in today's time |
| title_full_unstemmed | Newborn screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency in Bihar: A pressing priority in today's time |
| title_short | Newborn screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency in Bihar: A pressing priority in today's time |
| title_sort | newborn screening for congenital hypothyroidism congenital adrenal hyperplasia and glucose 6 phosphate dehydrogenase deficiency in bihar a pressing priority in today s time |
| topic | congenital adrenal hyperplasia congenital hypothyroidism glucose-6-phosphate dehydrogenase deficiency newborn screening |
| url | http://www.jfmpc.com/article.asp?issn=2249-4863;year=2023;volume=12;issue=12;spage=3332;epage=3338;aulast=Kumari |
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