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Abstract

April - June 2022 | Vol. 15 | Issue 2 | 02-05
Carrier Screening in the Current Era: A Report Depicting its Utility and Challenges
Aashita Takkar, Veronica Arora, Swasti Pal, Renu Saxena
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
Address for Correspondence Email: veronicaarora@gmail.com
 
Abstract
Reproductive carrier screening is a genetic test which is offered to healthy individuals or couples who either have a history of a previous child suspected with a genetic condition or are planning a pregnancy. It is carried out to identify pathogenic/likely pathogenic variants in clinically relevant disease-causing genes known to be associated with autosomal recessive or X-linked disorders. The updated carrier screening guidelines (2021) by the American College of Medical Genetics and Genomics have introduced the concept of a tier-wise testing approach as this would be essential for standardizing and making the test more cost-effective. Carrier screening helps in preventing the recurrence of a known genetic condition and/or the birth of the first affected child with a genetic disorder. We discuss a couple in whom carrier screening identified an autosomal recessive condition, ‘fetal akinesia deformation sequence 2’. The test result helped to provide an answer for the couple’s bad obstetric history, a risk estimate for the occurrence of this condition in their subsequent pregnancies and discussion of future reproductive options. We also discuss the challenges and limitations of such testing and the ways to overcome them.
 
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