Prenatal sonographic findings in confirmed cases of Wolf-Hirschhorn syndrome

Simonini, Corinna; Hoopmann, Markus; Kagan, Karl Oliver; Schröder, Torsten; Gembruch, Ulrich; Geipel, A.

doi:10.1186/s12884-022-04665-4

Cited by 5 publications

(10 citation statements)

References 26 publications

(42 reference statements)

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“…In our cohort, 11 WHS fetuses were detected. Only four of these fetuses showed ultrasound abnormalities, all of which were multiple malformations, similar to other reports (Simonini et al, 2022;Xing et al, 2018). Reviewed all the literature, fetal prenatal ultrasound multiple malformations up to 59.3%.…”

Section: Discussionsupporting

confidence: 90%

“…The evaluation of fetal nasal bone absence/nasal bone shortness is an essential aspect of our study. Fetal nasal bone dysplasia or absence was reported in 50.0% (Xing et al, 2018) and 77.8% (Simonini et al, 2022), respectively, and 50% (2/4) in our cohort.…”

Section: Discussionsupporting

confidence: 45%

“…In addition, WHS is characterized by developmental delays, varying degrees of intellectual impairment, hypotonia (mainly involving the lower extremities), epilepsy or specific electroencephalogram changes, and microcephaly (Mekkawy et al, 2021 ; Simonini et al, 2022 ; Yamamoto‐Shimojima et al, 2019 ). Some patients present with skeletal abnormalities (Buddhdev et al, 2020 ), eye or optic nerve abnormalities (Çelik et al, 2021 ), tumors of various systems (Battaglia et al, 2018 ), dental abnormalities, hearing disorders, heart malformations, cleft lip or palate, urogenital tract malformations, brain structural abnormalities, and digestive system malformations (Mekkawy et al, 2021 ; Simonini et al, 2022 ). Given the lack of effective treatment for WHS, most patients have poor prognosis.…”

Section: Introductionmentioning

confidence: 99%

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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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Section: Discussionsupporting

confidence: 90%

Section: Discussionsupporting

confidence: 45%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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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“…The majority of prenatally diagnosed cases of WHS reported in the medical literature are delineated by facial abnormalities, symmetric intrauterine growth retardation, microcephaly and oligohydramnios 24,25 . However, both cases (Case 2 and Case 4) in our study with WHS were not combined with other structural abnormalities.…”

Section: Discussionmentioning

confidence: 99%

Association of prenatal Cleft Lip and Palate ultrasound abnormalities with copy number variants at a single Chinese tertiary center

Yan,

Yu,

Zhou

et al. 2024

Preprint

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Backgroud: A systematic analysis was conducted to investigate the molecular etiology of fetal cleft lip and/or palate (CL/CP) and the association between various types of CL/CP and copy number variations (CNVs), as well as their impact on birth outcomes. Methods:In this retrospective study, a cohort of pregnancies diagnosed with fetal CL/CP was enrolled and comprehensive clinical data for all cases were extracted from our medical record database, including demographic data about the pregnancies, ultrasound findings, results of Chromosomal microarray (CMA), as well as relevant pregnant and perinatal outcomes. Results:Among the 358 cases, 32 clinically significant variants in 29 (8.1%)fetuses with CL/CP were detected by CMA. In 338 singleton pregnancies, the diagnostic yield of CMA in the context of CL/CP fetuses was determined to be 7.7% (26/338). CP-only cases exhibited a relatively higher prevalence of pathogenic/likely pathogenic (P/LP) CNVs at a rate of 25% (3/12), followed by CLP-only cases at 8.0% (23/288). Notably, the CL-only group did not demonstrate any P/LP CNV findings among the examined cases (0/38). The diagnostic rate of clinically significant variants was significantly higher in the non-isolated CL/CP group than in the isolated CL/CP group (11/33, 33.3% vs. 15/305, 4.9%, p<0.001). In twin pregnancies, 3 clinically significant variants (15.0%) were detected in the other 20 twin pregnancies. Conclusions: This study provides powerful evidence supporting the efficacy of CMA as a valuable tool for facilitating the prenatal genetic diagnosis of fetal CL/CP. The presence of CP and CLP in fetal cases demonstrated a relatively higher incidence of P/LP CNVs. Moreover, when these cases were accompanied by additional ultrasound abnormalities, the likelihood of identifying diagnostic CNVs significantly increased. Conversely, cases of CL alone might not be associated with positive CNVs. The present data may significantly enhance prenatal diagnosis accuracy and facilitate informed genetic counseling for individuals affected by fetal CL/CP.

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“…Якщо ж носової кістки немає, то дослідження хромосомних патологій слід проводити далі. Згідно з даними, поданими в науковій літературі, діапазони розмірів носових кісток можуть бути корисними для пренатального скринінгу та діагностики синдромів, які, як відомо, досить часто пов'язані з гіпоплазією носа [37,38]. Невідповідність табличним розмірами свідчить про те, що у плода є гіпоплазія носової кістки.…”

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Current Information on the Development and Formation of the Structure of Small Bones of the Facial Division of the Skull

Berezina¹

2022

CAOS

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The development of the cranial vault bone system is ensured by the sequential development and displacement of various rudiments, which merge, spread and take an indirect part in the formation of the face. The analysis of modern scientiﬁ c literature allows us to come to the conclusion that, despite a number of scientiﬁ c works in human anatomy, the morphogenesis of small bones of the facial skull remains an actual direction of modern medicine. As you know, the small bones of the facial skull include the lacrimal, nasal, zygomatic, palatine bones, the lower nasal concha, which are paired, and the unpaired – the scapula and hyoid bone. Primary ossiﬁ cation of the lacrimal bone appears in the third month of fetal development. Among the anomalies of the nasal conchas, pneumatization, agenesis, and their doubling are quite often detected. The ossiﬁ cation of the ploughshare develops from two connective tissue plates, which fuse together in the process of ossiﬁ cation (beginning in the third month of embryogenesis). Ossiﬁ cation of the nasal bone is determined from one point of ossiﬁ cation, which appears in the third month of embryogenesis. The zygomatic bone undergoes the connective tissue and bone stages of development, the ossiﬁ cation of the nucleus appears in the 8th week of intrauterine development. For a long time, the hyoid bone has been the object of anatomical discussions regarding the peculiarities of its embryonic origin, variants of its structure, position and function. Conclusion. On the basis of the conducted research, it can be stated that in the scientiﬁ c literature there are isolated data on the development and formation of the small bones structure in the perinatal period of ontogenesis of the facial skull. Currently there are no comprehensive studies on the density of bone tissue, morphometric characteristics and correlative relationships of the small bones of the facial skull with the parameters of the face and skull as a whole during the fetal and early neonatal periods of ontogenesis. Last is the basis for determining the morphological prerequisites for the appearance of variants of the facial structure and its congenital defects and determine the need for further anatomical study.

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Prenatal sonographic findings in confirmed cases of Wolf-Hirschhorn syndrome

Cited by 5 publications

References 26 publications

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

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

Association of prenatal Cleft Lip and Palate ultrasound abnormalities with copy number variants at a single Chinese tertiary center

Current Information on the Development and Formation of the Structure of Small Bones of the Facial Division of the Skull

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