Genetic diagnosis and non-invasive prenatal testing of a fetus with Prader-Willi/Angelman syndrome.
10.3760/cma.j.issn.1003-9406.2019.06.003
- VernacularTitle:一例Prader-Willi/Angelman综合征胎儿的遗传学诊断及无创产前检测
- Author:
Ming GAO
1
;
Hong PANG
1
;
Yulin SHI
1
;
Xiaojing FENG
1
;
Yanhui ZHAO
1
;
Jun HUA
1
;
Dan TONG
1
;
Jinping LIU
1
;
Juan WEN
2
;
Tingting FAN
1
;
Lingqian WU
2
Author Information
1. Shenyang Women and Children's Hospital, Liaoning 110001, China. Email: panghong_yc@126.com.
2. Research Center of Medical Genetics, School of Life Science, Central South University, Changsha, Hunan 410000, China. Email: wulingqian@sklmg.edu.cn.
- Publication Type:Journal Article
- MeSH:
Angelman Syndrome;
Chromosome Banding;
Chromosomes, Human, Pair 15;
Female;
Fetus;
Humans;
In Situ Hybridization, Fluorescence;
Prader-Willi Syndrome;
Pregnancy
- From:
Chinese Journal of Medical Genetics
2019;36(6):543-546
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a fetus featuring growth restriction and validate the effectiveness of a novel noninvasive prenatal testing (NIPT) technique for the detection of chromosomal microdeletions.
METHODS:Next-generation sequencing(NGS) and fluorescence in situ hybridization(FISH) were used to analyze the DNA of the fetus. Conventional G-banding was used to analyze the karyotypes of the fetus and its parents. High-throughput sequencing was used to analyze free fetal DNA.
RESULTS:NGS analysis has revealed a 4.88 Mb deletion at 15q11.2-q13.1 region in the fetus, which has a 99% overlap with the critical region of Prader-Willi syndrome (Type 2) and Angelman syndrome (Type 2) and encompassed critical genes including SNRPN and UBE3A. NIPT also revealed a 4.6 Mb deletion at 15q12, which was consistent with the results of fetal cord blood and amniotic DNA testing. FISH assay has confirmed the result of NGS. By karyotying, all subjects showed a normal karyotypes at a level of 320~400 bands.
CONCLUSION:It is quite necessary to carry out genetic testing on fetuses showing growth restriction. NIPT for fetal chromosomal microdeletions/microduplication syndromes is highly accurate for the diagnosis of Prader-Willi/Angelman syndrome.
