Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.

Teresa N SparksBillie R LianoglouRebecca R AdamiIlina D PluymKerry HollimanJennifer DuffySarah L DownumSachi PatelAmanda FaubelNina M BoeNancy T FieldAisling MurphyLouise C LaurentJennifer JolleyCherry UyAnne M SlavotinekPatrick DevineUgur HodoglugilJessica Van ZiffleStephan J SandersTippi C MacKenzieMary E Nortonnull nullnull null

Published in: The New England journal of medicine (2020)

In this large case series of 127 fetuses with unexplained NIHF, we identified a diagnostic genetic variant in approximately one third of the cases. (Funded by the UCSF Center for Maternal-Fetal Precision Medicine and others; ClinicalTrials.gov number, NCT03412760.).

Keyphrases

copy number
birth weight
gestational age
genome wide
single cell
pregnancy outcomes
preterm birth
dna methylation
gene expression
weight gain
body mass index