Expanding families: a pilot study on preconception expanded carrier screening in Bahrain

Expanding families: a pilot study on preconception expanded carrier screening in Bahrain

Abstract Background Preconception expanded carrier screening (ECS) is a genetic test that enables the identification of at-risk carriers of recessive disorders by screening for up to hundreds of genes. Next-generation sequencing (NGS) development has paved the way for its integration into ECS. This...

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Bibliographic Details
Main Authors: Cristina Skrypnyk, Rawan AlHarmi, Aanchal Mathur, Hussein Hifnawi AlHafnawi, Sri Hari Chandan Appikonda, Lova Satyanarayana Matsa
Format: Article
Language:English
Published: BMC 2024-10-01
Series:BMC Pregnancy and Childbirth
Subjects:
Carrier screening
Consanguinity
Exome sequencing
Genetic counseling
Next-generation sequencing
Preconception genetic testing
Online Access:https://doi.org/10.1186/s12884-024-06878-1
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