PMID- 37102283
OWN - NLM
STAT- MEDLINE
DCOM- 20230428
LR  - 20230428
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 40
IP  - 5
DP  - 2023 May 10
TI  - [The value of chromosomal microarray analysis and fluorescence in situ 
      hybridization for the prenatal diagnosis of chromosomal mosaicisms].
PG  - 527-531
LID - 10.3760/cma.j.cn511374-20230105-00004 [doi]
AB  - OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) and 
      fluorescence in situ hybridization (FISH) for the prenatal diagnosis of 
      chromosomal mosaicisms. METHODS: A total of 775 pregnant women who had visited 
      the Prenatal Diagnosis Center of Yancheng Maternal and Child Health Care Hospital 
      from January 2018 to December 2020 were selected as study subjects. Chromosome 
      karyotyping analysis and CMA were carried out for all women, and FISH was used to 
      validate the suspected mosaicism cases. RESULTS: Among the 775 amniotic fluid 
      samples, karyotyping has identified 13 mosaicism cases, which yielded a detection 
      rate of 1.55%. Respectively, there were 4, 3, 4 and 2 cases for sex chromosome 
      number mosaicisms, abnormal sex chromosome structure mosaicisms, abnormal 
      autosomal number mosaicisms and abnormal autosomal structure mosaicisms. CMA has 
      only detected only 6 of the 13 cases. Among 3 cases verified by FISH, 2 cases 
      were consistent with the karyotyping and CMA results, and clearly showed low 
      proportion mosaicism, and 1 case was consistent with the result of karyotyping 
      but with a normal result by CMA. Eight pregnant women had chosen to terminate the 
      pregnancy (5 with sex chromosome mosaicisms and 3 with autosomal mosaicisms). 
      CONCLUSION: For fetuses suspected for chromosomal mosaicisms, CMA, FISH and 
      G-banding karyotyping should be combined to determine the type and proportion of 
      mosaicisms more precisely in order to provide more information for genetic 
      counseling.
FAU - Zheng, Jianli
AU  - Zheng J
AD  - Department of Prenatal Diagnosis, Yancheng Maternity and Child Health Care 
      Hospital, Yancheng, Jiangsu 224001, China. anningyc@126.com.
FAU - An, Ning
AU  - An N
FAU - Li, Min
AU  - Li M
FAU - Xu, Mengjun
AU  - Xu M
FAU - Guan, Yongjuan
AU  - Guan Y
FAU - Liu, Jianbin
AU  - Liu J
LA  - chi
PT  - English Abstract
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
SB  - IM
MH  - Female
MH  - Pregnancy
MH  - Humans
MH  - *Mosaicism
MH  - In Situ Hybridization, Fluorescence
MH  - *Chromosome Disorders/genetics
MH  - Prenatal Diagnosis/methods
MH  - Chromosome Aberrations
MH  - Sex Chromosome Aberrations
MH  - Microarray Analysis/methods
MH  - Chromosomes
EDAT- 2023/04/27 06:42
MHDA- 2023/04/28 06:41
CRDT- 2023/04/27 04:13
PHST- 2023/04/28 06:41 [medline]
PHST- 2023/04/27 06:42 [pubmed]
PHST- 2023/04/27 04:13 [entrez]
AID - 940640096 [pii]
AID - 10.3760/cma.j.cn511374-20230105-00004 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 May 10;40(5):527-531. doi: 
      10.3760/cma.j.cn511374-20230105-00004.