Prenatal diagnosis of Hartsfield syndrome with a novel genetic variant

A G2P0, 24‐year‐old woman presented at 17 weeks 3 days gestation for a fetal anatomy scan. Ultrasound identified bilateral upper and lower extremity ectrodactyly, semilobar holoprosencephaly, midface hypoplasia, and cleft lip and palate. Amniocentesis for a chromosome microarray demonstrated no sign...

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Bibliographic Details

Published in:	Prenatal diagnosis Vol. 43; no. 13; pp. 1671 - 1673
Main Authors:	Rich, Matthew, Schroeder, Bradley, Manning, Courtney, Abbott, Mary‐Alice
Format:	Journal Article
Language:	English
Published:	England Wiley Subscription Services, Inc 01-12-2023
Subjects:	Amniocentesis Chromosomes Cleft lip/palate Copy number Diagnosis Ectrodactyly Fetuses Fibroblast growth factor receptor 1 Genetic diversity Genetic variance Holoprosencephaly Hypoplasia Prenatal diagnosis Sequences
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