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

• Main Authors: Cristina Skrypnyk (Author), Rawan AlHarmi (Author), Aanchal Mathur (Author), Hussein Hifnawi AlHafnawi (Author), Sri Hari Chandan Appikonda (Author), Lova Satyanarayana Matsa (Author)
• Format: Book
• Published: BMC, 2024-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...