PMID- 31055801
OWN - NLM
STAT- MEDLINE
DCOM- 20190813
LR  - 20190813
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 36
IP  - 6
DP  - 2019 Jun 10
TI  - [Genetic diagnosis and non-invasive prenatal testing of a fetus with 
      Prader-Willi/Angelman syndrome].
PG  - 543-546
LID - 10.3760/cma.j.issn.1003-9406.2019.06.003 [doi]
AB  - 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.
FAU - Gao, Ming
AU  - Gao M
AD  - Shenyang Women and Children's Hospital, Liaoning 110001, China. Email: 
      panghong_yc@126.com.
FAU - Pang, Hong
AU  - Pang H
AD  - Shenyang Women and Children's Hospital, Liaoning 110001, China. Email: 
      panghong_yc@126.com.
FAU - Shi, Yulin
AU  - Shi Y
AD  - Shenyang Women and Children's Hospital, Liaoning 110001, China. Email: 
      panghong_yc@126.com.
FAU - Feng, Xiaojing
AU  - Feng X
AD  - Shenyang Women and Children's Hospital, Liaoning 110001, China. Email: 
      panghong_yc@126.com.
FAU - Zhao, Yanhui
AU  - Zhao Y
AD  - Shenyang Women and Children's Hospital, Liaoning 110001, China. Email: 
      panghong_yc@126.com.
FAU - Hua, Jun
AU  - Hua J
AD  - Shenyang Women and Children's Hospital, Liaoning 110001, China. Email: 
      panghong_yc@126.com.
FAU - Tong, Dan
AU  - Tong D
AD  - Shenyang Women and Children's Hospital, Liaoning 110001, China. Email: 
      panghong_yc@126.com.
FAU - Liu, Jinping
AU  - Liu J
AD  - Shenyang Women and Children's Hospital, Liaoning 110001, China. Email: 
      panghong_yc@126.com.
FAU - Wen, Juan
AU  - Wen J
AD  - Research Center of Medical Genetics, School of Life Science, Central South 
      University, Changsha, Hunan 410000, China. Email: wulingqian@sklmg.edu.cn.
FAU - Fan, Tingting
AU  - Fan T
AD  - Shenyang Women and Children's Hospital, Liaoning 110001, China. Email: 
      panghong_yc@126.com.
FAU - Wu, Lingqian
AU  - Wu L
AD  - Research Center of Medical Genetics, School of Life Science, Central South 
      University, Changsha, Hunan 410000, China. Email: wulingqian@sklmg.edu.cn.
LA  - chi
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
MH  - *Angelman Syndrome
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 15
MH  - Female
MH  - Fetus
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Prader-Willi Syndrome
MH  - Pregnancy
EDAT- 2019/05/06 06:00
MHDA- 2019/08/14 06:00
CRDT- 2019/05/06 06:00
PHST- 2019/05/06 06:00 [entrez]
PHST- 2019/05/06 06:00 [pubmed]
PHST- 2019/08/14 06:00 [medline]
AID - 940636106 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2019.06.003 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):543-546. doi: 
      10.3760/cma.j.issn.1003-9406.2019.06.003.