Prenatal diagnosis of Wolf-Hirschhorn syndrome: Ultrasonography and molecular karyotyping results

Li, Zhen; Fan, Shushu; Huang, Lv‐Yin; Pan, Min; Han, Jin Hee; Yang, Xin; Li, Dong-Zhi

doi:10.1016/j.ejogrb.2018.03.047

Cited by 11 publications

(17 citation statements)

References 20 publications

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“…IUGR was the most common ultrasound finding in prenatal WHS cases. The previously reported rate was 98.2% (55/56) [6,7], compared with 83.3% (10/12) in our cohort . Generally, the IUGR was observed by ultrasound at second trimester fetal structure evaluations, even early at 16 th gestational week.…”

Section: Discussioncontrasting

confidence: 63%

“…Using overlapping analyses of 4p terminal deletions, we concluded a smallest region spanned from 4p16.3 to the telomere including WHSCR and WHSCR2 of 2.05Mb in size to be associated with severe IUGR, described by Li zhen et al [7]. Similarly, 4p16.…”

Section: Discussionmentioning

confidence: 77%

“…Distinctive craniofacial features of WHS patients are characterized as "Greek warrior helmet", including the wide bridge of the nose continuing to the forehead, high anterior hairline with prominent glabella, widely spaced eyes, epicanthus, highly arched eyebrows, short philtrum, downturned corners of the mouth, micrognathia, poorly formed ears with pits/tags, and microcephaly. Major structural anomalies such as renal hypoplasia, cardiac malformations, fetal growth retardation, and increased Nuchal Translucency (NT) are also reported in some of the WHS fetuses [6,7]. About 55% of WHS is caused by an isolated 4p terminal deletion, and 40%-45% is due to an unbalanced translocation with a 4p deletion and a duplication of another chromosome.…”

Section: Introductionmentioning

confidence: 99%

“…However, specific ultrasound markers has not been established for WHS. The most consistent presentation was severe IUGR [6,7], other signs such as increased NT, prominent glabella, ocular hypertelorism, micrognathia, short philtrum, cleft lip/palate, cystic cerebral lesions, abnormal nasal bone or renal hypoplasia were previously reported in cases of WHS diagnosed prenatally [13,14]. As the implementation of chromosomal microarray using in both Submit your Manuscript | www.austinpublishinggroup.com postnatal and prenatal diagnosis of WHS, the critical regions for specific WHS features could probably be refined.…”

Section: Introductionmentioning

confidence: 99%

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IUGR is Commonly Observed among Prenatally Diagnosed Chromosome 4p Deletion Syndrome

JS¹,

YM²,

Cao³

et al. 2021

austiniobstetgynecol

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Objective: our study aimed at retrospectively assessing the abnormal prenatal ultrasound findings of chromosome 4p deletion syndrome. Methods: 21 cases with abnormal sonographic signs revealed 4p deletion by Chromosome Microarray (CMA) in this retrospective analysis. Clinical information and molecular basis of this cohort were compared with those from other two groups in China, the critical region related to special ultrasound findings was mapped with the smallest regions of overlap. Results: This is the largest prenatal series to evaluate the prenatal ultrasound features of 4p deletion syndrome detected by CMA. Firstly we refined the relationship between the genomic coordinates with IUGR in chromosome 4p terminal deletion syndrome. Additional chromosomal abnormalities was identified in 12 cases. Intrauterine embryonic arrest was diagnosed at first trimester for 9 cases. The most consistent ultrasound indicator was IUGR (95.5%), and the smallest region response for IUGR correspond to a 2.05Mb at 4p16.3-pter (chr4: 68,345-2,121,057, hg19). Increased Nuchal Translucency (NT) could be a risk factor for predicting WHS at first-trimester pregnancy with the rate of 16.6% from our data. A 3.6Mb microdeletion located at 4p16.3-pter (chr4: 68,345-3,753,422, hg19) might be the candidate region associated with increased NT. Conclusion: We identified IUGR as the most common feature in prenatal 4p terminal deletion and Wolf-Hirschhorn syndrome. The existence of additional CNVs may contribution to possible explanations for the clinical heterogeneity of this syndrome. Prenatal findings of IUGR, increased NT or early spontaneous abortion should warrant the diagnosis of 4p terminal deletion WHS.

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Section: Discussioncontrasting

confidence: 63%

Section: Discussionmentioning

confidence: 77%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

IUGR is Commonly Observed among Prenatally Diagnosed Chromosome 4p Deletion Syndrome

JS¹,

YM²,

Cao³

et al. 2021

austiniobstetgynecol

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show abstract

“…[26][27][28][29][30] Cytogenetic testing on amniotic fluid or chorionic villus samples via karyotype, fluorescent in situ hybridization (FISH), or chromosome microarray analysis (CMA) can lead to a precise diagnosis of 4p deletion. [26][27][28][29][30] After birth, patients suspected to have typical facial features and other related defects for WHS can be further confirmed by karyotype, FISH, or CMA. [13][14][15]31 Management Treatment for WHS is directed toward correction of the correctible defects, such as heart defects, cleft lip, and/or palate and ophthalmologic abnormalities.…”

Section: Diagnosismentioning

confidence: 99%

Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature

et al. 2021

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Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion condition. The WHS core phenotype includes developmental delays, intellectual disabilities, seizures, and distinctive facial features. Various other comorbidities have also been reported, such as hearing loss, heart defects, as well as eye problems and kidney problems. In this report, we present a case of WHS accompanied by hyperparathyroidism and hypercalcemia, which has not been previously reported. A girl was born at 37 weeks of gestation by vaginal delivery. She was small for the gestational age (2,045 g) and admitted to neonatal intensive care unit. She had typical WHS facial features and was found to have bilateral small kidneys associated with transient metabolic acidosis and renal insufficiency. She had right-sided sensorineural hearing loss, a small atrial septal defect, and colpocephaly and hypoplasia of corpus callosum. She had a single seizure which was well controlled with an oral antiepileptic medication. Cytogenetic studies demonstrated a large terminal chromosome 4p deletion (21.4 Mb) and 4p duplication (2.1 Mb) adjacent to the deletion. A unique finding in this patient is her consistently elevated levels of parathyroid hormone and serum calcium, suggesting hyperparathyroidism. We present this rare case along with a review of the literature and hope to draw an attention to a potential relationship between WHS and hyperparathyroidism.

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

Tang

Zeng

Wang

et al. 2023

Molec Gen & Gen Med

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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, 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

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Prenatal diagnosis of Wolf-Hirschhorn syndrome: Ultrasonography and molecular karyotyping results

Cited by 11 publications

References 20 publications

IUGR is Commonly Observed among Prenatally Diagnosed Chromosome 4p Deletion Syndrome

IUGR is Commonly Observed among Prenatally Diagnosed Chromosome 4p Deletion Syndrome

Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature

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

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