P747: Considerations for the inclusion of autosomal dominant conditions in preconception carrier screening

Genetics in Medicine Open 2026 Open access

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Authors: Jennifer Cohen, Sarah Araji, Sarah Haas, Tse Yen Tan, Judy Wenyu Li, Alex Liu, Michael Duyzend, Xiaoke Gao, Stefan Rentas, Kyle M. Walsh
DOI: 10.1016/j.gimo.2026.104239
Cited by: 0

Abstract

Preconception carrier screening traditionally focuses on autosomal recessive and X-linked genetic diseases. Dominant conditions with incomplete penetrance and variable expressivity are of special importance, however, as they may be inherited from undiagnosed parents. A previously published “treatable fetal findings” list of conditions proposed for incidental report on fetal exome or genome includes those with fetal and infantile onset for which early surveillance and intervention can improve outcomes.

Fields of Study & Subjects

Prenatal Screening and Diagnostics Genomics and Rare Diseases Medical and Health Sciences Research

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104239–104239
Publication date
1 January 2026
Language
EN