Prenatal phenotype of Wolf-Hirschhorn syndrome: A case series and literature review.

ABSTRACT:

Objective

Wolf-Hirschhorn syndrome (WHS) is a congenital malformation syndrome with poor prognosis. It is associated with a heterozygous deletion of chromosome 4p16.3. Adequate knowledge of prenatal phenotypes and proper prenatal counseling are essential for intrauterine diagnosis.

Method

We retrospectively analyzed 11 prenatal cases of WHS diagnosed using low-depth whole-genome sequencing (copy number variation sequencing) performed at our hospital from May 2017 to September 2022 and reviewed their prenatal ultrasound reports in detail. We also analyzed WHS cases (including prenatal and postnatal) with abnormal prenatal ultrasound findings in the published literature over the past 20 years.

Results

Among the 11 fetuses with a prenatal diagnosis of WHS in our hospital

SUBMITTER: Tang F 

PROVIDER: S-EPMC10265096 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature