Application value of chromosome microarray analysis for prenatal diagnosis of fetus with ultrasonic abnormalities
10.3760/cma.j.issn.1003-9406.2020.01.018
- VernacularTitle: 染色体微阵列分析在超声异常胎儿产前诊断中的应用价值
- Author:
Xianxian MI
1
;
Xueping SHEN
;
Su ZHANG
Author Information
1. Prenatal Diagnosis Center of Huzhou Maternal and Child Health Care Hospital, Huzhou, Zhejiang 313000, China
- Publication Type:Clinical Trail
- Keywords:
Chromosome microarray analysis;
Prenatal diagnosis;
Ultrasonic abnormality
- From:
Chinese Journal of Medical Genetics
2020;37(1):67-70
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To assess the application value of chromosomal microarray analysis (CMA) for prenatal diagnosis of fetus with ultrasound abnormalities.
Methods:For 293 fetuses with ultrasound abnormalities (including 168 with structural abnormalities and 125 with non-structured abnormalities) but no common chromosomal abnormalities, CMA assay was performed.
Results:Sixteen pathogenic copy number variants (pCNVs) were detected by CMA with a detection rate of 5.46%. The detection rates were 5.95% (10/168) for those with structural abnormalities and 4.80% (6/125) for those with non-structural abnormalities.
Conclusion:Compared with conventional karyotyping analysis, CMA can improve the detection of fetal chromosomal abnormality and provide an effective means for prenatal diagnosis.
