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

Tianjiao WangDebra KissKathleen McFaddenJoshua M Byrnes Paul A Scuffham Martin B DelatyckiMartin 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

genome wide
pregnant women
current status
gene expression
dna methylation