Non-invasive prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3 years of clinical experience.

Mathilde PacaultCamille VerebiMaureen LopezNicolas VaucouleurLucie OrhantNathalie DeburgraveFrance LeturcqDominique VidaudEmmanuelle GirodonThierry BienvenuJuliette Nectoux

Published in: BJOG : an international journal of obstetrics and gynaecology (2022)

A robust approach to non-invasive prenatal exclusion of paternal pathogenic variant in a diagnosis setting.

Keyphrases

pregnant women
copy number
genome wide
gene expression