The value of combined use of chromosomal karyotyping and chromosome microarray analysis for prenatal diagnosis.
10.3760/cma.j.issn.1003-9406.2020.04.007
- VernacularTitle:染色体核型分析联合染色体微阵列分析对于产前诊断的价值
- Author:
Huihua RAO
1
;
Yanqiu LIU
;
Qing LU
;
Ning HUANG
;
Jihui ZHOU
Author Information
1. Prenatal Diagnosis Center, Jiangxi Provincial Maternal and Child Health Care Hospital, Nanchang, Jiangxi 330008, China. lyq0914@126.com.
- Publication Type:Journal Article
- MeSH:
Chromosome Aberrations;
Chromosome Disorders;
diagnosis;
genetics;
Female;
Humans;
Karyotyping;
Microarray Analysis;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2020;37(4):392-396
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To assess the value of combined chromosomal karyotyping and chromosomal microarray analysis (CMA) for prenatal diagnosis.
METHODS:G-banding karyotyping and CMA were simultaneously performed on 546 women who were subjected to amniocentesis during middle pregnancy.
RESULTS:In total 82 cases were detected with chromosomal abnormalities. The two methods were consistent in 43 cases, which included 14 trisomy 21, 6 trisomy 18, 1 trisomy 13, 14 sex chromosomal aneuploidies, 4 chromosomal deletions, 3 chromosomal duplications and 1 sex chromosomal mosaicism. Fifteen fetuses with chromosomal abnormalities detected by CMA were missed by karyotyping analysis, which included 9 microdeletions and 6 microduplications. Sixteen fetuses with chromosomal abnormalities detected by karyotyping analysis were missed by CMA, which included 15 chromosomal translocations and 1 sex chromosomal mosaicism. In 7 cases, the results of karyotyping analysis and CMA were inconsistent. One supernumerary marker chromosome detected by karyotyping analysis was verified by CMA as 9p13.1p21.1 duplication.
CONCLUSION:Combined chromosomal karyotyping and CMA can significantly improve the detection rate for chromosomal abnormalities, which has a great value for prenatal diagnosis.
