Molecular testing strategies in the evaluation of fetal skeletal dysplasia.

Angie C Jelin Karin J BlakemoreShannon TrebesKatelynn SagaserKatherine R ForsterMelissa RussoJulie Hoover-Fong

Published in: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians (2020)

Features of specific skeletal dysplasias can be visualized in utero and guide appropriate molecular testing. Sonographic details in addition to molecular genetic results aid in prognostic counseling.

Keyphrases

single molecule
hepatitis c virus
dna methylation
hiv testing
optic nerve