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CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2025; 12(01): 001-002
DOI: 10.1055/s-0045-1809695
SFM Practice Guidelines

Carrier Screening for Genetic Disorders: Recommendations by the Society for Indian Academy of Medical Genetics

Endorsed by the Society of Fetal Medicine and the Federation of Obstetrics and Gynecological Societies of India
Swasti Pal 
1   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
,
Sameer Bhatia
1   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
,
Priya Ranganath
2   Apollo Hospitals, Bengaluru, Karnataka, India
,
Meenakshi Lallar
3   Prime Diagnostics, Chandigarh, India
,
Neelam Saini
4   Radiant Children Hospital, Jodhpur, Rajasthan, India
,
Chaitanya Datar
5   Sujanan Clinic, Bharati Hospital & Research Center, KEM Hospital, Pune, Maharashtra, India
,
Haseena Sait
6   Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
,
Somya Srivastava
7   Cancer Genetics Unit, Tata Memorial Hospital, Mumbai, Maharashtra, India
,
Ashwin Dalal 
8   Division of Diagnostics, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India
,
Shagun Aggarwal
9   Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India
,
Ratna Dua Puri 
1   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
,
members of Society for Indian Academy of Medical Genetics Executive Committee› Author Affiliations
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Introduction

Carrier screening is defined as testing of an apparently healthy couple/individual to identify if they are at risk of having a child with a genetic disorder. Carrier screening can play an important role in preventing genetic disorders with high morbidity and mortality. These carrier screening guidelines were conceptualized, drafted, and formalized by a subcommittee constituted by the Society for Indian Academy of Medical Genetics and were endorsed by the Society of Fetal Medicine and the Federation of Obstetrics and Gynecological Societies of India. The committee deliberated on the prevalence of respective genetic disorders, availability of Indian statistics, and treatability (or otherwise) of the specific disease.



Publication History

Article published online:
07 August 2025

© 2025. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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