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Abstract

April to June 2019 | Vol. 12 | Issue 2 | Page 06-10
Carrier Screening and Prenatal Counseling for Inborn Errors of Metabolism: Challenges in the Indian Scenario
Chaitanya A Datar
Bharati Vidyapeeth Medical College & Hospital; Sahyadri Genetics; and KEM Hospital, Pune
Address for Correspondence Email: dr.cdatar@gmail.com
 
Abstract
Carrier screening for inborn errors of metabolism (IEMs) in the Indian population is challenging because of factors such as consanguinity, inbreeding and inadequate work up done for the index patients. Proper carrier screening is the key to offer accurate prenatal counseling and diagnosis for IEMs. With the advent of next generation sequencing (NGS), it has become fairly easier to offer a definitive diagnosis for IEMs in families. However, there can be many pitfalls in the screening of carriers for IEMs based on NGS methods which have been highlighted in this case series. Eight case scenarios have been discussed, each with a message to highlight the key points that must be taken into consideration while interpreting the results. This will be of immense benefit to all concerned clinicians and counselors who deal with IEMs in the pediatric population and also for those who do antenatal counseling and offer prenatal diagnosis for metabolic disorders.
 
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