Application of chromosomal microarray analysis in prenatal diagnosis of fetuses with increased nuchal translucency
10.3760/cma.j.issn.1003-9406.2019.10.005
- VernacularTitle: 染色体微阵列分析在颈项透明层增厚胎儿产前诊断中的应用
- Author:
Mengyao NI
1
;
Jie LI
1
;
Xiangyu ZHU
2
;
Yujie ZHU
2
;
Leilei GU
2
;
Xing WU
2
;
Ying YANG
2
Author Information
1. Department of Obstetrics and Gynecology, Nanjing Drum Tower Hospital, Clinical College of Nanjing Medical University, Nanjing, Jiangsu 210008, China
2. Prenatal Diagnosis Center, Nanjing Drum Tower Hospital, Nanjing Jiangsu 210008, China
- Publication Type:Journal Article
- Keywords:
Nuchal translucency;
Chromosomal microarray analysis;
Prenatal diagnosis;
Copy number variant
- From:
Chinese Journal of Medical Genetics
2019;36(10):970-974
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To determine the frequency of chromosomal abnormalities and outcome of pregnancy for fetuses with increased nuchal translucency (NT).
Methods:Between July 2014 and February 2018, 247 fetuses with increased NT (>95th centile)were analyzed by chromosome microarray analysis (CMA). The fetuses were divided into ones with isolated increased NT(168 cases), increased NT with cystic hygroma(20 cases), increased NT with edema(12 cases) or increased NT with other abnormalities(47 cases). All couples were followed up by telephone calls.
Results:The rate of chromosomal abnormalities was 31.6% (78/247), which included 66 cases with chromosomal aneuploidies and 12 with copy number variants(CNVs). CNVs accounted for 31.4% (11/35) of total abnormalities among fetuses with isolated increased NT, whilst only 2.3% (1/43)of the total abnormalities among fetuses with non-isolated increased NT. Three fetuses with a normal CMA result had mental and physical retardation. Two of them were diagnosed with single gene disorders by whole exome sequencing.
Conclusion:CMA can detect more chromosomal microdeletion/microduplications among fetuses with isolated increased NT. Furthermore, fetuses with increased NT and anegative CMA result during pregnancy cannot exclude all adverse outcomes.
