Value of non-invasive prenatal testing for the detection of fetal chromosomal copy number variations.
10.3760/cma.j.cn511374-20200331-00221
- VernacularTitle:无创产前检测对于胎儿染色体拷贝数变异的检测价值
- Author:
Keqin JIN
1
,
2
;
Jianfeng LUO
;
Liping ZHANG
;
Shuangshuang SHEN
;
Yuan HU
Author Information
1. Jinhua Women and Children's Health Care Hospital, Jinhua, Zhejiang 321000, China. jkq2239026@
2. com.
- Publication Type:Journal Article
- MeSH:
Chromosomes;
DNA Copy Number Variations;
Female;
Fetus;
Humans;
Pregnancy;
Prenatal Diagnosis;
Trisomy/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(4):329-334
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the value of non-invasive prenatal testing (NIPT) for the detection of fetal chromosome copy number variations (CNVs).
METHODS:Clinical data of 18 661 pregnant women who underwent NIPT were collected. For fetuses suspected for carrying CNVs, amniotic fluid samples were collected for chromosomal karyotyping and/or chromosomal microarray analysis (CMA).
RESULTS:Among all samples, NIPT suggested that 58 fetuses carried trisomy 21, 18 carried trisomy 18, 19 carried trisomy 13, 1 carried trisomies 18 and 21. Eighty eight women accepted invasive prenatal diagnosis. The results of CMA in 59 cases were consistent with those of NIPT, which yielded a consistency rate of 67.05%. In addition, 37 cases of fetal CNVs were detected by NIPT, of which 19 (15 microdeletions and 4 microduplications) have accepted invasive prenatal diagnosis. In 14 cases, the results were consistency with those of NIPT, with a consistent rate of 73.68%.
CONCLUSION:NIPT features high sensitivity and accuracy. Invasive prenatal diagnosis should be considered for CNVs detected by NIPT, and by tracing its parental origin, it can provide guidance for clinical practice.
