Newborn screening in India: Current perspectives

Kapoor, Seema; Kabra, Madhulika

doi:10.1007/s13312-010-0043-0

Cited by 33 publications

(26 citation statements)

References 18 publications

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“…However, progress in India with formal pilot studies, a phased in approach, and increased government interest continue to increase screening availability. In India, there is also interest in expanded MS/MS screening in addition to expansion to other non-MS/MS screening tests and some laboratories are already offering MS/MS testing to private patients (Kapoor and Kabra 2010).…”

Section: Methods -Conference Descriptionsmentioning

confidence: 99%

Consolidating newborn screening efforts in the Asia Pacific region

Padilla

Therrell

2012

J Community Genet

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Many of the countries in the Asia Pacific Region, particularly those with depressed and developing economies, are just initiating newborn screening programs for selected metabolic and other congenital disorders. The cultural, geographic, language, and economic differences that exist throughout the region add to the challenges of developing sustainable newborn screening systems. There are currently more developing programs than developed programs within the region. Newborn screening activities in the Asia Pacific Region are particularly important since births there account for approximately half of the world's births. To date, there have been two workshops to facilitate formation of the Asia Pacific Newborn Screening Collaboratives. The 1st Workshop on Consolidating Newborn Screening Efforts in the Asia Pacific Region occurred in Cebu, Philippines, on March 30-April 1, 2008, as a satellite meeting to the 7th Asia Pacific Conference on Human Genetics. The second workshop was held on June 4-5, 2010, in Manila, Philippines. Workshop participants included key policy-makers, service providers, researchers, and consumer advocates from 11 countries with 50% or less newborn screening coverage. Expert lectures included experiences in the United States and the Netherlands, international quality assurance activities and ongoing and potential research activities. Additional meeting support was provided by the U.S. National Institutes of Health, the Centers for Disease Control and Prevention, the U.S. National Newborn Screening and Genetics Resource Center, the International Society for Neonatal Screening, and the March of Dimes. As part of both meeting activities, participants shared individual experiences in program implementation with formal updates of screening information for each country. This report reviews the activities and country reports from two Workshops on Consolidating Newborn Screening Efforts in the Asia Pacific Region with emphasis on the second workshop. It also updates the literature on screening activities and implementation/expansion challenges in the participating countries.

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Section: Methods -Conference Descriptionsmentioning

confidence: 99%

Consolidating newborn screening efforts in the Asia Pacific region

Padilla

Therrell

2012

J Community Genet

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“…Although efforts are underway to implement universal newborn screening, for at least a few common disorders, at present newborn screening is not performed on all newborns in India [4,5]. Previous pilot studies conducted in India have shown a high prevalence of treatable disorders [6].…”

Section: Introductionmentioning

confidence: 99%

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

Sahai

Zytkowicz

Kotthuri³

et al. 2011

Indian J Pediatr

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A high prevalence of disorders was observed, but to estimate the true extent of the IEM in India larger studies are required. This study also illustrates challenges encountered in disease management highlighting the importance of considering the access to confirmatory testing and continuing clinical care before implementing any large-scale NBS for conditions with resource-intensive health needs such as the IEM detected by MS/MS.

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“…[17][18][19] Neonatal screening for CHT by measurement of TSH can be performed from either cord blood or whole blood collected onto filter paper at or near 48 hours of age. The use of cord blood limits the disorders that can be screened to CHT and G6PD whilst a sample collected at 48 hours enables the screening for a greater number of disorders including inborn errors of metabolism.…”

Section: Discussionmentioning

confidence: 99%

Newborn Screening for Congenital Hypothyroidism in India– Is OVERDUE

Fletcher¹

2014

J Neonatal Biol

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Neonatal screening is an essential preventative public health program, and is the standard practice of care worldwide. India is yet to start any publicly funded program despite this having been established in many countries for over 50 years. The purpose of neonatal screening is to reduce morbidity and mortality in the newborn. Detection must have a clear benefit for the baby and be cost effective when compared to the cost associated with delayed treatment. These criteria are clearly satisfied for screening a baby at birth for congenital hypothyroidism (CHT). Though systematic neonatal screening for congenital hypothyroidism was introduced in the early 1970 in many countries, in India an estimated 10,000 babies are born with congenital hypothyroidism every year, yet there is no screening program for this. We present the details of our study, which reveals that CHT in India has a high incidence and is an URGENT high priority for public screening.

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Newborn screening in India: Current perspectives

Cited by 33 publications

References 18 publications

Consolidating newborn screening efforts in the Asia Pacific region

Consolidating newborn screening efforts in the Asia Pacific region

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

Newborn Screening for Congenital Hypothyroidism in India– Is OVERDUE

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