PMID- 34365622
OWN - NLM
STAT- MEDLINE
DCOM- 20210810
LR  - 20220531
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 38
IP  - 8
DP  - 2021 Aug 10
TI  - [Prenatal cytogenetic and molecular genetic analysis of a fetus with confined 
      placenta mosaicism for trisomy 16].
PG  - 771-774
LID - 10.3760/cma.j.cn511374-20200609-00425 [doi]
AB  - OBJECTIVE: To review the clinical data of a fetus with false positive result of 
      non-invasive prenatal testing (NIPT) due to confined placental mosaicism (CPM). 
      METHODS: Amniotic fluid sample was taken from a pregnant women with high risk for 
      chromosome 16 aneuploidy for karyotyping analysis, single nucleotide polymorphism 
      array (SNP array) and interphase fluorescence in situ hybridization (FISH). 
      Genetic testing was also conducted on the fetal and maternal surface of the 
      placenta, root of umbilical cord and fetal skin tissue after induced abortion. 
      RESULTS: Cytogenetic analysis of the amniotic fluid sample yielded a normal 
      karyotype. SNP array revealed mosaicism (20%) of trisomy 16 in the fetus. FISH 
      confirmed the presence of mosaicism (25%) for trisomy 16. After induced labor, 
      all sampled sites of placenta were confirmed to contain trisomy 16 by SNP array, 
      while the analysis of fetal skin tissue yielded a negative result. CONCLUSION: 
      CPM is an important factor for false positive NIPT result. Prenatal 
      identification of CPM and strengthened pregnancy management are important to 
      reduce adverse pregnancy outcomes.
FAU - Jiao, Zhihui
AU  - Jiao Z
AD  - Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, 
      the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, 
      China. kongxd@263.net.
FAU - Zhu, Chaofeng
AU  - Zhu C
FAU - Hou, Yaqin
AU  - Hou Y
FAU - Wang, Li
AU  - Wang L
FAU - Kong, Xiangdong
AU  - Kong X
LA  - chi
PT  - Case Reports
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
RN  - Chromosome 16, trisomy
SB  - IM
MH  - Amniocentesis
MH  - *Chromosomes, Human, Pair 16/genetics
MH  - Cytogenetic Analysis
MH  - Female
MH  - Fetus
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Molecular Biology
MH  - *Mosaicism
MH  - Placenta
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - Trisomy/genetics
EDAT- 2021/08/09 06:00
MHDA- 2021/08/11 06:00
CRDT- 2021/08/08 21:04
PHST- 2021/08/08 21:04 [entrez]
PHST- 2021/08/09 06:00 [pubmed]
PHST- 2021/08/11 06:00 [medline]
AID - 940638160 [pii]
AID - 10.3760/cma.j.cn511374-20200609-00425 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Aug 10;38(8):771-774. doi: 
      10.3760/cma.j.cn511374-20200609-00425.