An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.

Neeta L VoraKelly GilmoreAlicia BrandtChelsea GustafsonNatasha StrandeLori RamkissoonEmily HardistyAnn Katherine M ForemanKirk WilhelmsenPhillips OwenKaren E WeckJonathan S BergCynthia M PowellBradford C Powell

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

ES has diagnostic utility in a select population of fetuses where a genetic diagnosis was highly suspected. Challenges related to genetics literacy, variant interpretation, and various types of diagnostic results affecting both fetal and parental health must be addressed by highly tailored pre- and post-test genetic counseling.

Keyphrases

clinical practice
copy number
genome wide
health information
healthcare
smoking cessation
public health
mental health
single cell
pulmonary embolism
dna methylation
gestational age
gene expression
climate change
risk assessment
human health
health promotion
hiv infected
drug induced