Genetic analysis of fetus with DMD gene mutation accidentally found in prenatal diagnosis with chromosomal microarray analysis
10.3760/cma.j.cn112141-20250307-00079
- VernacularTitle:应用染色体微阵列分析技术产前诊断中意外发现DMD基因变异胎儿的遗传学分析
- Author:
Nan JIANG
1
;
Xiaohu JIANG
;
Meiqin YU
;
Wei ZHAO
;
Siying LIANG
Author Information
1. 青岛大学附属妇女儿童医院基因检测中心，青岛 266034
- Publication Type:Journal Article
- Keywords:
Muscular dystrophy, Duchenne;
Genetic variation;
Microarray analysis;
Prenatal diagnosis;
Multiplex polymerase chain reaction
- From:
Chinese Journal of Obstetrics and Gynecology
2025;60(7):505-510
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical significance of chromosome microarray analysis (CMA) in the prenatal detection of DMD gene variants in fetuses without family history during prenatal diagnosis.Methods:A retrospective analysis was conducted on amniotic fluid samples from 12 629 pregnant women who underwent CMA prenatal diagnosis due to high-risk factors at Women and Children′s Hospital Affiliated to Qingdao University between January 2019 and December 2024. Samples with CMA-indicated DMD gene variants were further verified by multiplex ligation-dependent probe amplification (MLPA).Results:(1) Among 12 629 amniotic fluid samples, CMA detected 11 samples with DMD gene deletions or duplications (6 male and 5 female fetuses), which were confirmed by MLPA. (2) All 11 samples with DMD gene variants had no family history of genetic diseases, including 5 deletions and 6 duplications. All of the 5 DMD gene deletions occurred in male fetuses and were all pathogenic, and the pregnant women chose to terminate the pregnancies. Among the 6 DMD gene duplications cases, 1 male fetus was diagnosed as pathogenic and had pregnancy termination; the other 5 duplication cases were female fetuses, in which 1 were pathogenic and 4 were likely pathogenic. They continued pregnancy until delivery, and follow-up showed no DMD-related symptoms. (3) Pedigree analysis revealed that among the 11 samples with DMD gene variants, 3 were de novo mutations, 7 were inherited from mothers, and 1 had an unknown origin.Conclusions:For fetuses without pseudohypertrophic muscalar dystrophy family history but requiring invasive prenatal diagnosis for other reasons, CMA helps to increase the detection of DMD gene variants in fetuses. Testing pregnant women for DMD pathogenic gene carriers could effectively prevent the birth of pseudohypertrophic muscalar dystrophy children.
