ReviewMolecular genetics & genomic medicine2023
Prenatal phenotype of Wolf-Hirschhorn syndrome: A case series and literature review.
Review in Molecular genetics & genomic medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 11 citations in OpenAlex.
- Wolf-Hirschhorn syndrome with growth hormone deficiency: long-term response to RhGH therapy.Hormones (Athens, Greece) · 2026Review
- Outcomes and Management of Pregnancies Screening Positive for Microdeletions 22q11.2, 15q11.2, 1p36, 4p, or 5p: A Retrospective Cohort Study.The application of clinical genetics · 2026Article
- Bilateral Anophthalmia Associated With Ventricular Septal Defect, Atrial Septal Defect, and Patent Ductus Arteriosus: A Rare Neonatal Case Report.Case reports in pediatrics · 2026Article
- Renal Hypoplasia and Oligomeganephronia in a Fetus with Wolf-Hirschhorn Syndrome.Diagnostics (Basel, Switzerland) · 2025Article
- Epidemiological Surveillance of Genetically Determined Microcephaly in Latin America: A Narrative Review.Epidemiologia (Basel, Switzerland) · 2025Review
- The chromosomal characteristics of spontaneous abortion and its potential associated copy number variants and genes.Journal of assisted reproduction and genetics · 2024Article
- Generation of human gastric assembloids from primary fetal organoids.Pediatric surgery international · 2023Article
- Fetal congenital gastrointestinal obstruction: prenatal diagnosis of chromosome microarray analysis and pregnancy outcomes.BMC pregnancy and childbirth · 2023Article
- Prenatal phenotype of Wolf-Hirschhorn syndrome: A case series and literature review.Molecular genetics & genomic medicine · 2023Review
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveWolf-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.
methodWe 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.
resultsAmong the 11 fetuses with a prenatal diagnosis of WHS in our hospital, four cases showed abnormal prenatal ultrasound findings, including shrunken kidneys, ventricular septal defect, a small stomach, fetal growth restriction (FGR), enlarged posterior fossa, and soft ultrasonic markers. Our four cases were combined with 114 published WHS cases with prenatal ultrasound abnormalities from other medical institutions. Of the 118 cases, 59.3% (70 of 118) were multiple malformations. The most frequent ultrasound features observed in all 118 cases were FGR (76.3%, 90 of 118), followed by facial anomalies (28.8%, 34 of 118), central nervous system anomalies (27.1%, 32 of 118), and soft ultrasound markers (23.7%, 28 of 118). Other less common phenotypes included cardiac anomalies (19.5%, 23 of 118), genitourinary anomalies (19.5%, 23 of 118), increased NT/NF (12.7%, 15 of 118), skeletal anomalies (11.9%, 14 of 118), a single umbilical artery (10.2%, 12 of 118), gastrointestinal anomalies (9.3%, 11 of 118), oligohydramnios (8.5%, 10 of 118), cystic hygroma (5.1%, six of 118), hydrops/pleural effusion/ascites (2.5%, three of 118), and polyhydramnios (2.5%, three of 118).
conclusionThis study improved our understanding of the prenatal presentation of WHS by analyzing prenatal ultrasound abnormalities. The timely identification of prenatal ultrasound abnormalities can provide accurate consultation for pregnant women, improve the prenatal detection of WHS, and enable early prenatal management and intervention of WHS.
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