Study on clinical features and diagnostic methods of prenatal Wolf-Hirschhorn syndrome.
10.3760/cma.j.cn511374-20200319-00183
- Author:
Yan WANG
1
;
Xuemei CHEN
;
Huili XUE
;
Lingji CHEN
;
Meihuan CHEN
;
Hailong HUANG
;
Deqin HE
;
Liangpu XU
Author Information
1. Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian 350001, China. xiliangpu@fjmu.edu.cn.
- Publication Type:Journal Article
- MeSH:
Chromosomes, Human, Pair 4/genetics*;
Female;
Fetal Growth Retardation/genetics*;
Humans;
Karyotyping;
Pregnancy;
Prenatal Diagnosis;
Retrospective Studies;
Wolf-Hirschhorn Syndrome/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(8):735-739
- CountryChina
- Language:Chinese
-
Abstract:
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.
