Clinical utility of reproductive carrier screening for preconception and pregnant couples for multiple genetic conditions: a systematic review and meta-analysis.

Tianjiao WangDebra KissKathleen McFadden Joshua M Byrnes Paul A Scuffham Martin B Delatycki Martin J Downes

Published in: Expert review of molecular diagnostics (2023)

Our review suggests that the number and the severity of screened conditions can significantly impact HRCs' reproductive decisions. Future work needs to investigate the definition of clinical utility and the design of screening panels.

Keyphrases

pregnant women
current status
genome wide
copy number
dna methylation
intimate partner violence
gene expression