PMID- 34160397
OWN - NLM
STAT- MEDLINE
DCOM- 20210701
LR  - 20230103
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Print)
IS  - 0025-7974 (Linking)
VI  - 100
IP  - 25
DP  - 2021 Jun 25
TI  - Molecular diagnosis of sex chromosome mosaics in fetal amniotic cells.
PG  - e26331
LID - 10.1097/MD.0000000000026331 [doi]
LID - e26331
AB  - Mosaicism can be observed in karyotype analyses of amniotic fluid cells. 
      Differentiating between true mosaicism and pseudomosaicism and determining mosaic 
      proportions can help avoid misjudgments by doctors and effectively reduce mental 
      and physical harm to pregnant women. However, the detection of mosaicism and 
      mosaic proportions via karyotype analysis and fluorescence in situ hybridization 
      (FISH) is extremely complex. We have developed a novel approach, "segmental 
      duplication quantitative fluorescent PCR" (SD-QF-PCR), to detect mosaicism and 
      mosaic proportions.In this study, twenty control samples and fourteen mosaic 
      samples were tested by first-line karyotype analysis; by second-line karyotype 
      analysis, SD-QF-PCR and FISH were used to reassess fetal sex chromosome mosaicism 
      and mosaic proportions.Detection of the 20 control samples by second-line 
      karyotype analysis via FISH and SD-QF-PCR showed normal and consistent results. 
      Among the 14 mosaic samples, the numbers of samples showing true mosaicism and 
      pseudomosaicism detected by the three methods were 6 and 8, respectively.Our 
      study demonstrates that SD-QF-PCR can be used as a complementary method to 
      traditional cytogenetic analysis of amniotic fluid mosaics and has clinical 
      application value.
CI  - Copyright (c) 2021 the Author(s). Published by Wolters Kluwer Health, Inc.
FAU - Fan, Zuqian
AU  - Fan Z
AD  - Department of Clinical Laboratory, Qinzhou Maternal and Child Health Hospital, 
      Guangxi.
FAU - Weng, Xunjin
AU  - Weng X
AD  - Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases, 
      Qinzhou, Guangxi.
FAU - Pan, Zhijian
AU  - Pan Z
AD  - Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases, 
      Qinzhou, Guangxi.
FAU - Fan, Qiongying
AU  - Fan Q
AD  - Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases, 
      Qinzhou, Guangxi.
FAU - Long, Ju
AU  - Long J
AD  - Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases, 
      Qinzhou, Guangxi.
AD  - Laboratory of Medical Genetics, Qinzhou Maternal and Child Health Hospital, 
      Guangxi.
AD  - Laboratory Animal Center, Xi'an Jiaotong University Health Science Center, Xi'an, 
      Shaanxi, PR China.
FAU - Lin, Guixian
AU  - Lin G
AD  - Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases, 
      Qinzhou, Guangxi.
FAU - Yang, Qian
AU  - Yang Q
AD  - Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases, 
      Qinzhou, Guangxi.
FAU - Sun, Lei
AU  - Sun L
AD  - Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases, 
      Qinzhou, Guangxi.
AD  - Laboratory of Medical Genetics, Qinzhou Maternal and Child Health Hospital, 
      Guangxi.
AD  - Laboratory Animal Center, Xi'an Jiaotong University Health Science Center, Xi'an, 
      Shaanxi, PR China.
LA  - eng
GR  - 81660259/National Natural Science Foundation of China/
PT  - Journal Article
PT  - Observational Study
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
SB  - IM
MH  - Amniocentesis
MH  - Amniotic Fluid/cytology
MH  - Cells, Cultured
MH  - Feasibility Studies
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping/*methods
MH  - *Mosaicism
MH  - Polymerase Chain Reaction/*methods
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - Primary Cell Culture
MH  - *Sex Chromosome Aberrations
PMC - PMC8238360
COIS- The authors report no conflicts of interest to disclose.
EDAT- 2021/06/24 06:00
MHDA- 2021/07/02 06:00
PMCR- 2021/06/25
CRDT- 2021/06/23 12:20
PHST- 2020/11/16 00:00 [received]
PHST- 2021/05/26 00:00 [accepted]
PHST- 2021/06/23 12:20 [entrez]
PHST- 2021/06/24 06:00 [pubmed]
PHST- 2021/07/02 06:00 [medline]
PHST- 2021/06/25 00:00 [pmc-release]
AID - 00005792-202106250-00020 [pii]
AID - MD-D-20-11335 [pii]
AID - 10.1097/MD.0000000000026331 [doi]
PST - ppublish
SO  - Medicine (Baltimore). 2021 Jun 25;100(25):e26331. doi: 
      10.1097/MD.0000000000026331.