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Prenatal diagnosis of partial trisomy 16p and its association with congenital diaphragmatic hernia
Author(s) -
Strong Molly,
Garabedian Matthew,
Pettigrew Anjana,
Barron Natasha,
Hansen Wendy
Publication year - 2013
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4108
Subject(s) - congenital diaphragmatic hernia , medicine , trisomy , omphalocele , yolk sac , diaphragmatic breathing , aneuploidy , pregnancy , hernia , diaphragmatic hernia , abnormality , prenatal diagnosis , obstetrics , umbilical hernia , fetus , surgery , pathology , chromosome , biology , genetics , embryo , alternative medicine , psychiatry , gene
What's already known about this topic? Little is known about partial trisomy 16p as relatively few cases have been reported. An abnormal yolk sac and increased nuchal translucency are associated with aneuploidy and adverse pregnancy outcomes.What does this study add? We propose that congenital diaphragmatic hernia may be part of the phenotype of partial trisomy 16p. This case adds to other recent observations of congenital diaphragmatic hernia with chromosome imbalances in 16p. This report illustrates the natural progression of an abnormality, imaged by ultrasound during the first 17 weeks of pregnancy: abnormal yolk sac, increased nuchal translucency, and diaphragmatic hernia.