Application of chromosomal microarray analysis for fetuses with choroid plexus cysts.
10.3760/cma.j.cn511374-20211012-00808
- VernacularTitle:染色体微阵列分析在脉络丛囊肿胎儿诊断中的应用
- Author:
Keqin JIN
1
;
Jun ZHANG
;
Xiayuan XU
;
Liping ZHANG
;
Yanfen YANG
;
Shuangshuang SHEN
Author Information
1. Genetic Laboratory, Jinhua Maternal & Child Health Care Hospital, Jinhua, Zhejiang 321099, China. jkq2239026@163.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Female;
Pregnancy;
DNA Copy Number Variations;
Choroid Plexus/diagnostic imaging*;
Microarray Analysis;
Karyotype;
Chromosome Aberrations;
Amniotic Fluid;
Cysts
- From:
Chinese Journal of Medical Genetics
2022;39(12):1334-1338
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To assess the value of chromosomal microarray analysis (CMA) for fetuses with choroid plexus cysts (CPC) detected by prenatal ultrasonography.
METHODS:Amniotic fluid chromosomal karyotype was analyzed in 104 fetuses with CPC, and copy number variations (CNVs) among the fetuses were detected by using CMA.
RESULTS:Ten fetuses (9.62%) were found to have an abnormal karyotype, and 14 additional CNVs were detected in those with a normal karyotype. The fetuses were divided into isolated CPC group (n = 87) and non-isolated CPC group (n = 17) based on the presence of additional ultrasonographic abnormalities. The detection rates for karyotypic abnormalities of the two groups were 4.6% and 35.3%, respectively, whilst those for the CMA were 4.6% and 47.1%, respectively. The detection rates for karyotypic abnormalities and CMA of the non-isolated CPC group were significantly higher than those of the isolated CPC group (P < 0.05). The detection rate for CMA in the non-isolated group was significantly higher than chromosomal karyotype abnormalities (P < 0.05). Among the 8 fetuses with abnormal CMA, 4 had single umbilical artery, 3 had abnormal cardiac structure, and 2 had enhanced intestinal echo.
CONCLUSION:CPC is closely associated with chromosomal abnormalities. Chromosome karyotype analysis in combination with CMA can effectively detect fetal chromosomal abnormalities and provide a basis for genetic counseling.
