Genetic diagnosis and non-invasive prenatal testing of a fetus with Prader-Willi/Angelman syndrome.

Ming GAO; Hong PANG; Yulin SHI; Xiaojing FENG; Yanhui ZHAO; Jun HUA; Dan TONG; Jinping LIU; Juan WEN; Tingting FAN; Lingqian WU

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Genetic diagnosis and non-invasive prenatal testing of a fetus with Prader-Willi/Angelman syndrome.

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
,

2} ; Hong PANG ^{1
,

2} ; Yulin SHI ^{1
,

2} ; Xiaojing FENG ^{1
,

2} ; Yanhui ZHAO ^{1
,

2} ; Jun HUA ^{1
,

2} ; Dan TONG ^{1
,

2} ; Jinping LIU ^{1
,

2} ; Juan WEN ³ ; Tingting FAN ^{1
,

2} ; Lingqian WU ³
Author Information

1. Shenyang Women and Children's Hospital, Liaoning 110001, China. Email: panghong_yc@
2. com.
3. 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.