Objective: To investigate the clinical features of fetuses with Wolf-Hirschhorn syndrome(WHS) and explore the diagnostic methods and prenatal ultrasound characteristics and provide evidence for prenatal genetic counseling.
Methods: We retrospectively analyzed 5 cases of WHS fetuses diagnosed from March 2016 to February 2020, and analyzed the results of chromosomal karyotype analysis and chromosomal microarray analysis (CMA) of the fetuses.
Results: Five cases of WHS were detected by CMA, four cases were detected by karyotype analysis. Prenatal ultrasound revealed 4 abnormalities, of which 3 had intrauterine growth restriction, and only 1 had abnormalities of the maxillofacial region. The sequence of the fragments was 4p16.3p16.1 with a loss of 6.5 Mb, 4p16.3p15.32 with a loss of 15.6 Mb combined with 2p25.3 increased by 906kb, 4p16.3p15.31 with a loss of 20.4 Mb, 4p16.p15.1 with a loss of 35 Mb and 4p16.3p14 with a loss of 37 Mb.
Conclusion: Fetal growth restriction may be one of the early manifestations of WHS. Absence of fetal facial abnormality by prenatal ultrasound screening cannot exclude WHS. Karyotype analysis may miss the diagnosis of WHS, while combined CMA techniques can improve the diagnostic accuracy.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3760/cma.j.cn511374-20200319-00183 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The Role of Preoperative Inflammatory Markers in Cervical Cerclage Success.
J Coll Physicians Surg Pak
January 2025
Department of Obstetrics and Gynaecology, Health Sciences University, Bursa Yuksek Ihtisas Training and Research Hospital,
Bursa, Turkiye.
Objective: To compare the inflammatory markers between therapeutic and emergency cerclage and assess the predictive role of inflammatory markers for the latency period.
Study Design: Descriptive study. Place and Duration of the Study: Department of Obstetrics and Gynaecology, Bursa Yuksek Ihtisas Training and Research Hospital, Turkiye, from January 2016 to September 2022.
Ultrasonographic examination of the maturational effect of maternal vitamin D use on fetal clavicle bone development.
BMC Med Imaging
January 2025
Faculty of Medicine, Department of Obstetrics and Gynecology, Erciyes University, Yenidogan Neighborhood, Turhan Baytop Street No:1, Kayseri, 38280, Turkey.
Aim: This study aimed to evaluate the effect of maternal vitamin D use during intrauterine life on fetal bone development using ultrasonographic image processing techniques.
Materials And Methods: We evaluated 52 pregnant women receiving vitamin D supplementation and 50 who refused vitamin D supplementation. Ultrasonographic imaging was performed on the fetal clavicle at 37-40 weeks of gestation.
Thick and Short Fetal Corpus Callosum on Ultrasound: Added Value of Fetal Magnetic Resonance Diffusion Tensor Imaging With Tractography.
Pediatr Neurol
December 2024
Department of Radiology, Infocus Diagnostics, Ahmedabad, Gujarat, India.
Background: Thick fetal corpus callosum (CC) is a rare finding and its significance in isolation is not clear. In this retrospective study, we aim to gain insight into the microarchitecture of CC in a cohort of fetuses with thick and short CC (isolated or associated with mild extra-/intracranial abnormalities) as seen on ultrasound (US), by using prenatal magnetic resonance (MR) diffusion tensor imaging (DTI) with fiber tractography, thereby allowing better characterization for postnatal prognosis.
Methods: Twelve fetuses met the inclusion criteria on US.
Prenatal Diagnosis of Caroli's Disease by Ultrasound and MRI Imaging.
Prenat Diagn
January 2025
Department of Radiology, Guangdong Women and Children Hospital, Guangzhou, China.
Objective: To present the imaging features of Caroli's disease (CD) on prenatal ultrasound and magnetic resonance imaging (MRI).
Methods: This was a retrospective case series of prenatally diagnosed CD between 2017 and 2024. Clinical data from these cases were collected and reviewed.
Clinical Application of the Fetal HQ Technique in the Evaluation of Normal Fetal Cardiac Function at Different Gestational Weeks.
Echocardiography
January 2025
Department of Ultrasound Diagnosis, Gansu Provincial Maternity and Child-Care Hospital (Gansu Provincial Central Hospital), Lanzhou, Gansu, P.R. China.
Objectives: To investigate the clinical value of fetal heart quantification (fetal HQ) in the evaluation of normal fetal heart size, morphology, and cardiac function at different gestational weeks.
Materials And Methods: A total of 101 pregnant women diagnosed with a healthy fetus by fetal echocardiography from September 2021 to December 2023 were selected and classified into four different periods of gestational weeks: 20-28 weeks (25 cases), 29-32 weeks (26 cases), 33-36 weeks (26 cases), and 37-40 weeks (24 cases). Quantitative analyses were performed by automatically tracking the endocardium using fetal HQ software that comes with the Voluson E10 from GE.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!