Clinical characteristics and genetic etiology of fetal Dandy-Walker spectrum anomalies: a retrospective cohort study of 28 cases
10.3760/cma.j.cn113903-20241012-00677
- VernacularTitle:胎儿Dandy-Walker谱系异常的临床特征及遗传学病因：28例回顾性队列研究
- Author:
Qingbing WANG
1
;
Saisai YANG
1
;
Jun CAO
1
;
Jing HU
1
;
Yuzhao ZHANG
1
;
Shumin REN
1
;
Qinghua WU
1
;
Yibing CHEN
1
Author Information
1. 郑州大学第一附属医院遗传与产前诊断中心，郑州 450052
- Publication Type:Journal Article
- Keywords:
Dandy-Walker malformation;
Prenatal diagnosis;
DNA copy number variations;
Chromosome aberrations;
Ultrasonography, prenatal
- From:
Chinese Journal of Perinatal Medicine
2025;28(9):770-774
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical characteristics and genetic etiology of fetal Dandy-Walker spectrum (DWS) anomalies.Methods:This retrospective cohort study analyzed 28 fetuses with ultrasonographically confirmed DWS (ten classic Dandy-Walker malformations and 18 Dandy-Walker variants) at the First Affiliated Hospital, Zhengzhou University from January 2019 to June 2024. All cases underwent systematic ultrasonographic evaluation. Genetic analyses included chromosomal karyotyping alone ( n=4) or combined with copy number variation sequencing (CNV-seq) ( n=10). Descriptive statistics and Chi-square tests (or Fisher's exact test) with Bonferroni correction were applied. Results:(1) Among 28 fetuses, seven (25.0%) had isolated DWS and 21 (75.0%) non-isolated DWS. Central nervous system anomalies were most common (53.6%, 15/28). (2) Karyotyping identified abnormalities in four cases (4/14), including two triploidies, one case of mosaicism for a derivative chromosome der(1;10), and one 17p deletion. CNV-seq detected anomalies in six cases (25.0%, 6/24), four of which were missed by karyotyping: 3q23 deletion (encompassing ZIC1/ ZIC4), 13q11 duplication, and other critical variants. (3) Combined testing yielded a higher detection rate (28.6%, 8/28) than karyotyping alone (4/14, χ2=4.62, P=0.032) or CNV-seq alone (25.0%, 6/24, χ2=4.83, P=0.028) ( P=0.048 and 0.044 after Bonferroni correction). Conclusions:DWS demonstrates significant genetic heterogeneity, primarily involving chromosomal numerical anomalies (e.g., triploidy) and copy number variations (e.g., 3q23 deletion). Combined karyotyping and CNV-seq improves detection rates of genetic abnormalities.
