Genetic diagnosis and noninvasive prenatal testing of a family with Williams-Beuren syndrome.
10.3760/cma.j.issn.1003-9406.2019.03.018
- Author:
Yanhui ZHAO
1
,
2
;
Hong PANG
;
Xiaojing FENG
;
Yushi XIANG
;
Ming GAO
;
Jun HUA
;
Dan TONG
;
Lingqian WU
;
Huaiyu SUN
Author Information
1. Shenyang Women and Children's Hospital, Shenyang, Liaoning 110001, China. panghong_yc@126.com
2. wulingqian@sklmg.edu.cn.
- Publication Type:Journal Article
- MeSH:
DNA Copy Number Variations;
Female;
Genetic Testing;
Humans;
In Situ Hybridization, Fluorescence;
Karyotyping;
Pregnancy;
Prenatal Diagnosis;
Williams Syndrome
- From:
Chinese Journal of Medical Genetics
2019;36(3):263-266
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis of a fetus with ventricular septal defect (VSD) by using modified noninvasive prenatal testing (NIPT) for the detection of microdeletion syndromes.
METHODS:Chromosomal karyotypes of the fetus and its parents were analyzed by G-banding technique. Next generation sequencing (NGS) was used to detect genomic copy number variations (CNVs) in cell-free fetal DNA. The results were verified by fluorescence in situ hybridization (FISH).
RESULTS:The fetus and its parents all had a normal karyotype at 320-400 band level. NGS revealed a deletion of 1.30 Mb at 7q11.23 in the fetus, with a 93% overlap with that of Williams-Beuren syndrome (WBS). The father also had a deletion of 1.42 Mb at 7q11.23, with a 99% overlap with that of WBS. Modified NIPT also detected the 1.30 Mb deletion at 7q11.23 in the fetus. The result of FISH has confirmed the above results.
CONCLUSION:It is necessary to carry out genetic testing on fetuses with VSD. NGS can detect fetal microdeletion syndromes and help to trace their parental origin. The modified NIPT for fetal chromosomal microdeletions/microduplication syndromes is highly accurate.
