PMID- 34096029
OWN - NLM
STAT- MEDLINE
DCOM- 20210608
LR  - 20210608
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 38
IP  - 6
DP  - 2021 Jun 10
TI  - [Cytogenetic analysis of an amniotic sample with X chromosome abnormality 
      signaled by non-invasive prenatal testing].
PG  - 573-576
LID - 10.3760/cma.j.cn511374-20201022-00742 [doi]
AB  - OBJECTIVE: To determine the chromosomal karyotype of a fetus with copy number 
      variation (CNV) of the X chromosome signaled by non-invasive prenatal testing 
      (NIPT). METHODS: NIPT was performed on the peripheral blood sample taken from the 
      pregnant women. Amniotic fluid and cord blood samples were subjected to 
      conventional G banded karyotyping, and were further analyzed by high-throughput 
      sequencing for chromosome microdeletion/microduplication. The results were then 
      verified by fluorescence in situ hybridization (FISH) on metaphase cells. 
      RESULTS: The NIPT test of pregnant women suggested low risk for 21-trisomy, 
      18-trisomy, and 13-trisomy, whilst indicated the number of chromosome X to be 
      low. The G banded karyotype of the amniotic fluid and cord blood cells was 46,XX. 
      The result of high-throughput sequencing chromosome 
      microdeletion/microduplication detection was seq[hg19](X)x 1, (Y)x 2. FISH showed 
      a clear red signal at each end of a whole chromosome, and a green signal on the 
      other chromosome, with a karyotype of 46,X,ish idic(Y) (q11.23) (SRY++, DXZ1+). C 
      banding showed that there is a dense and a slightly loose centromere at both ends 
      of the Y chromosome, and the parachromatin region was missing. The karyotype of 
      amniotic fluid and cord blood cells was finally determined to be 46,X, pus 
      idic(Y) (q11.23). CONCLUSION: For chromosome anomalies suggested by auxiliary 
      report of NIPT, conventional karyotyping combined with high-throughput sequencing 
      for chromosome microdeletion/microduplication should be adopted for the 
      prevention and reduction of the rate of chromosome microdeletion/microduplication 
      syndromes.
FAU - Zhang, Weiguo
AU  - Zhang W
AD  - Taizhou Hospital of Zhejiang Province, Taizhou, Zhejiang 317000, China. 
      zhangwgtzhospital@163.com.
FAU - Zhang, Weiqing
AU  - Zhang W
FAU - Pan, Feiyan
AU  - Pan F
FAU - Wang, Dongying
AU  - Wang D
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
SB  - IM
MH  - Chromosome Aberrations
MH  - *DNA Copy Number Variations
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - X Chromosome
EDAT- 2021/06/08 06:00
MHDA- 2021/06/09 06:00
CRDT- 2021/06/07 06:19
PHST- 2021/06/07 06:19 [entrez]
PHST- 2021/06/08 06:00 [pubmed]
PHST- 2021/06/09 06:00 [medline]
AID - 940638122 [pii]
AID - 10.3760/cma.j.cn511374-20201022-00742 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jun 10;38(6):573-576. doi: 
      10.3760/cma.j.cn511374-20201022-00742.