Prenatal diagnosis of partial trisomy 16p and its association with congenital diaphragmatic hernia

Abstract

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.

Prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital diaphragmatic hernia

“…Trisomy 9 [29], mosaic trisomy 9 [30,31], and mosaic trisomy 16 [32] have been associated with recurrent CDH. Other deletions such as Xpter-Xp22 deletions [33], 16p11.2 deletions [34e36], 15q24 deletions [37], 15q25.2 deletions [36], 17q12 microdeletion syndrome [38], partial trisomy 16p [39], Xq12eq13.1 microduplication [40], 1q12-q23 duplication [41], 11q23-qter duplication [42], triploidy [43], interstitial deletion of chromosome 3: 3q11.1eq13.2 and 3q11.2eq13.2 [44], and trisomy 22 [45] have been associated with CDH.…”

Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report

“…It encodes a transcription factor involved in several developmental processes such as paraxial mesoderm structural differentiation. Accordingly, the proximal 16p11.2 recurrent microdeletion has been associated with CDH . This deletion, defined by the breakpoints BP4 and BP5, has a population prevalence of approximately 1/2000 .…”