Prenatal genetic diagnosis of the fetuses with isolated corpus callosum abnormality
10.3760/cma.j.cn112141-20220428-00281
- VernacularTitle:孤立性胼胝体发育异常胎儿的系列遗传学诊断研究
- Author:
Qin SHE
1
;
Li ZHEN
;
Fang FU
;
Tingying LEI
;
Lushan LI
;
Ru LI
;
Dan WANG
;
Yongling ZHANG
;
Xiangyi JING
;
Cuixing YI
;
Huizhu ZHONG
;
Weihe TAN
;
Fuguang LI
;
Can LIAO
Author Information
1. 广州医科大学附属第六医院 清远市人民医院产前诊断中心，清远 511518
- Keywords:
Agenesis of corpus callosum;
Prenatal diagnosis;
Karyotyping;
Microarray analysis;
Whole exome sequencing
- From:
Chinese Journal of Obstetrics and Gynecology
2022;57(9):671-677
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the application value of chromosome karyotype analysis, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in prenatal diagnosis of isolated corpus callosum abnormality (CCA) fetus.Methods:Fetuses diagnosed with isolated CCA by ultrasound and MRI and receiving invasive prenatal diagnosis in Guangzhou Women and Children′s Medical Center and Qingyuan People′s Hospital from January 2010 to April 2021 were selected. Karyotype analysis and/or CMA [or copy number variation sequencing (CNV-seq)] were performed on all fetal samples, and WES was performed on fetal samples and their parents whose karyotype analysis and/or CMA (or CNV-seq) results were not abnormal.Results:Among 65 fetuses with isolated CCA, 38 cases underwent karyotype analysis, and 3 cases were detected with abnormal karyotypes, with a detection rate of 8% (3/38). A total of 49 fetuses with isolated CCA underwent CMA (or CNV-seq) detection, and 6 cases of pathogenic CNV were detected, the detection rate was 12% (6/49). Among them, the karyotype analysis results were abnormal, and the detection rate of further CMA detection was 1/1. The karyotype results were normal, and the detection rate of further CMA (or CNV-seq) detection was 14% (3/21). The detection rate of CMA as the first-line detection technique was 7% (2/27). A total of 25 fetuses with isolated CCA with negative results of karyotyping and/or CMA were tested by WES, and 9 cases (36%, 9/25) were detected with pathogenic genes. The gradient genetic diagnosis of chromosomal karyotyping, CMA and WES resulted in a definite genetic diagnosis of 26% (17/65) of isolated CCA fetuses.Conclusions:Prenatal genetic diagnosis of isolated CCA fetuses is of great clinical significance. The detection rate of CMA is higher than that of traditional karyotyping. CMA detection could be used as a first-line detection technique for fetuses with isolated CCA. WES could increase the pathogenicity detection rate of fetuses with isolated CCA when karyotype analysis and/or CMA test results are negative.
