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01-08-2018 | Maternal-Fetal Medicine

Prenatal diagnosis of Wolf–Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling

Published in: Archives of Gynecology and Obstetrics | Issue 2/2018

Abstract

Purpose

Wolf–Hirschhorn syndrome (WHS) is a contiguous gene syndrome due to terminal chromosome 4p deletions. We explored prenatal diagnosis of WHS by ultrasound as well as karyotype and single nucleotide polymorphism array (SNP array) to characterize the structural variants of WHS prenatally.

Methods

Ten prenatal cases of WHS were evaluated for the indication of the invasive testing, the ultrasound features, and cytogenetic and microarray results.

Results

Eight cases were diagnosed by karyotyping and SNP array, while two cases were detected only by SNP array. Combining our cases with 37 prenatal cases from the literature, the most common sonographic features were IUGR (97.7%) and typical facial appearance (82.9%). Other less common phenotypes included renal hypoplasia (36.2%), cardiac malformation (29.8%), cleft lip and palate (25.5%), cerebral abnormalities (25.5%), skeletal anomalies (21.3%), and increased nuchal translucency/nuchal fold thickness (NT/NF) (19%).

Conclusions

The most common intrauterine phenotypes of WHS were severe IUGR and typical facial appearance with other less consistent ultrasound findings. Noninvasive prenatal testing (NIPT) is one very promising screening tool for WHS. SNP array can improve diagnostic precision for detecting WHS, especially for the cryptic aberrations that cannot be identified by the traditional karyotyping. Ectopic kidney may be a previously unrecognized phenotype of WHS.

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Title: Prenatal diagnosis of Wolf–Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling
Publication date: 01-08-2018
Published in: Archives of Gynecology and Obstetrics / Issue 2/2018
Print ISSN: 0932-0067
Electronic ISSN: 1432-0711
DOI: https://doi.org/10.1007/s00404-018-4798-1

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Prenatal diagnosis of Wolf–Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling

Abstract

Purpose

Methods

Results

Conclusions

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Abstract

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