Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry: Experience of the Pilot Study in Andhra Pradesh, India

Sahai, Inderneel; Zytkowicz, Thomas; Kotthuri, Srimannarayna Rao; Kotthuri, Anantha Lakshmi; Eaton, Roger B.; Akella, Radha Rama Devi

doi:10.1007/s12098-011-0398-9

Cited by 23 publications

(15 citation statements)

References 15 publications

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“…The incidence of congenital hypothyroidism in the present study is 1 in 350 among newborn of Kashmir valley. Recent Indian data suggests a high incidence of congenital hypothyroidism which reports 1 in 2640 based on the study done by Desai et al in 1998, 1 in 1985 from Hyderabad, 2.1 in 1000 from Kochi and 1 in 2221 in another study recently from U.P [13,14,15,16 ]. Our study shows a high prevalence which implies better screening strategies and probably iodine deficiency in mothers which require further studies to make an authentic statement.…”

Section: Materials and Methods:-supporting

confidence: 53%

Thyroid Stimulating Hormone Levels Among Newborn and Association With Congenital Hypothyroidism in a Tertiary Care Hospital of North India

Bhat¹,

Naik²,

Mohd³

et al. 2020

IJAR

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Background: Newborn screening for hypothyroidism has been very valuable to detect hypothyroidism in neonatal period. And early thyroxin replacement has improved neurological development and physical growth of such babies. Screening for TSH early in neonatal life, the necessity of doing confirmatory tests is still unclear. CH is one of the most common preventable causes of intellectual disability [1]. Screening programs for CH have been developed in many countries Objectives: The study was done to find the incidence of congenital hypothyroidism as well as the association of congenital hypothyroidism with serum TSH levels (10-20mIU/L.) Methods: In a prospective study, the various characteristics of the Newborn like birth weight, gender, gestational age and maternal thyroid status were recorded, stable newborn babies beyond 34 weeks of gestational age were screened for congenital hypothyroidism using venous TSH levels. Those with TSH levels ≥ 10mIU/L were subjected to confirmatory free T4 and TSH levels test for diagnosis based on recommendations of the Indian Society for Pediatric and Adolescent Endocrinology (ISPAE). The association between screening TSH levels 10-20mIU/L and congenital hypothyroidism was also studied. Results: 3000 neonates were screened for congenital hypothyroidism. 350 (11 %) were retested with free T4 and Serum TSH levels. Out of 350 newborns 10 were diagnosed as case of CH and started on levo thyroxin Overall incidence of CH among screened babies was 0.3%. There was significant association between screening TSH levels and congenital hypothyroidism. Two newborns (0.06%) and 8(0.2%) newborns diagnosed with congenital hypothyroidism had screening TSH levels in the range of 10-20 mIU/L and >20mIU/L respectively, but this association was not found to be statistically significant. Combined Repeat TSH and Free T 4 was more accurate but costly. Conclusion: Screening newborns for TSH levels and high index of suspicion when TSH is as low as 10mIU/L, recommending retest after 20 days of life to detect CH early in life and prevent treatable cause of mental retardation.

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Section: Materials and Methods:-supporting

confidence: 53%

Thyroid Stimulating Hormone Levels Among Newborn and Association With Congenital Hypothyroidism in a Tertiary Care Hospital of North India

Bhat¹,

Naik²,

Mohd³

et al. 2020

IJAR

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“…Although MMA, PPA, and BKTD were also frequently detected in India, the reasons for these relatively higher frequencies are currently unknown. Several Indian research institutes are now conducting pilot studies on ENBS [ 22 , 23 ], which may clarify the genetic backgrounds of these OAs.…”

Section: Discussionmentioning

confidence: 99%

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening

Shibata

Hasegawa

Yamada

et al. 2018

Molecular Genetics and Metabolism Reports

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BackgroundExpanded newborn screening (ENBS) utilizing tandem mass spectrometry (MS/MS) for inborn metabolic diseases (IMDs), such as organic acidemias (OAs), fatty acid oxidation disorders, (FAODs), and amino acid disorders (AAs), is increasingly popular but has not yet been introduced in many Asian countries. This study aimed to determine the incidence rates of OAs, FAODs, and AAs in Asian countries and Germany using selective screening and ENBS records.Materials and methodsSelective screening for IMDs using gas chromatography–mass spectrometry and MS/MS was performed among patients suspected to be afflicted in Asian countries (including Japan, Vietnam, China, and India) between 2000 and 2015, and the results from different countries were compared. Similarly, ENBS results from Japan, South Korea, Taiwan, and Germany were compared. Additionally, the results of selective screening and ENBS in Japan were compared.ResultsAmong 39,270 patients who underwent selective screening, IMDs were detected in 1170. Methylmalonic acidemia was frequently identified in several countries, including Japan (81/377 diagnosed IMDs), China (94/216 IMDs), and India (72/293 IMDs). In Vietnam, however, β-ketothiolase deficiency was particularly frequent (33/250 IMDs). ENBS yielded differences in overall IMD rates by country: 1:8557 in Japan, 1:7030 in Taiwan, 1:13,205 in South Korea, and 1:2200 in Germany. Frequently discovered diseases included propionic acidemia (PPA) and phenylketonuria (PKU) in Japan, 3-methylcrotonyl-CoA carboxylase deficiency (MCCD) and PKU in Taiwan, MCCD and citrullinemia type I in South Korea, and PKU and medium-chain acyl-CoA dehydrogenase deficiency in Germany. Furthermore, in Japan, selective screening and ENBS yielded respective PPA frequencies of 14.7% and 49.4% among all organic acidemias.ConclusionThe incidence rates of IMDs vary by country. Moreover, the disease spectra of IMDs detected via selective screening differ from those detected via ENBS.

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“…Common genetic disorders like Hemophilia, Achondroplasia, Huntington disease, Lysosomal storage disorders, and many others have been reported in large numbers from all parts of the country. Information from small scale newborn screening projects, case reports and personal experiences of clinicians reveals that all inborn errors of metabolism are seen in India (Ambani et al 1979;Devi et al 1993;Verma 2000;Verma and Bijarnia 2002;Sahai et al 2011;Lodh and Kerketta 2013). Dysmorphology diagnosis has been of interest to many pediatricians as is reflected by a number of case reports of rare syndromes and new manifestations of known syndromes in pediatrics journals of India (Nadkarni and Nadkarni 1964;Shah 1965;Chaudhuri and Chaudhuri 1966;Agarwal et al 1974;Menon et al 1980;Mehta and Agarwal 1981;Pai 1986;Phadke et al 1986;Deka et al 1991;Kher et al 1994;Phadke 2011c).…”

Section: Spectrum Of Genetic Disordersmentioning

confidence: 99%

“…; Verma ; Verma and Bijarnia ; Sahai et al. ; Lodh and Kerketta ). Dysmorphology diagnosis has been of interest to many pediatricians as is reflected by a number of case reports of rare syndromes and new manifestations of known syndromes in pediatrics journals of India (Nadkarni and Nadkarni ; Shah ; Chaudhuri and Chaudhuri ; Agarwal et al.…”

Section: Spectrum Of Genetic Disordersmentioning

confidence: 99%

Medical genetics and genomic medicine in India: current status and opportunities ahead

Aggarwal

Phadke

2015

Molec Gen & Gen Med

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Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry: Experience of the Pilot Study in Andhra Pradesh, India

Cited by 23 publications

References 15 publications

Thyroid Stimulating Hormone Levels Among Newborn and Association With Congenital Hypothyroidism in a Tertiary Care Hospital of North India

Thyroid Stimulating Hormone Levels Among Newborn and Association With Congenital Hypothyroidism in a Tertiary Care Hospital of North India

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening

Medical genetics and genomic medicine in India: current status and opportunities ahead

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