PMID- 32383339
OWN - NLM
STAT- MEDLINE
DCOM- 20210430
LR  - 20230918
IS  - 2324-9269 (Electronic)
IS  - 2324-9269 (Linking)
VI  - 8
IP  - 7
DP  - 2020 Jul
TI  - Diagnostic cytogenetic testing following positive noninvasive prenatal screening 
      results of sex chromosome abnormalities: Report of five cases and systematic 
      review of evidence.
PG  - e1297
LID - 10.1002/mgg3.1297 [doi]
LID - e1297
AB  - BACKGROUND: Follow-up cytogenetic analysis has been recommended for cases with 
      positive noninvasive prenatal screening (NIPS) results. This study of five cases 
      with numerical and structural sex chromosomal abnormalities (SCA) and a review of 
      large case series of NIPS provided guidance to improve prenatal diagnosis for 
      SCA. METHODS: Following positive NIPS results for SCA, karyotype analysis, 
      chromosomal microarray analysis (CMA), fluorescence in situ hybridization (FISH), 
      and locus-specific quantitative PCR were performed on cultured amniocytes, 
      chorionic villi cells, and stimulated lymphocytes. Review of large case series 
      was performed to evaluate the NIPS positive rate, follow-up rate of cytogenetic 
      analysis, positive predictive value (PPV) for major types of SCA, and relative 
      frequencies of subtypes of major SCA. RESULTS: Of the five cases with positive 
      NIPS for SCA, case 1 showed a mosaic pattern of monosomy X and isodicentric Y; 
      case 2 showed a mosaic pattern of monosomy X confined to the placenta; cases 3 
      and 4 had an isochromosome of Xq, and case 5 showed a derivative chromosome 14 
      from a Yq/14p translocation of maternal origin. Review of literature showed that 
      mean positive rate of NIPS for SCA was 0.61%, follow-up rate of cytogenetics 
      analysis was 76%, and mean PPV for SCA was 48%. Mosaic patterns and structural 
      rearrangements involving sex chromosomes were estimated in 3%-20% and 3% of SCA 
      cases, respectively. CONCLUSION: These five cases further demonstrated the 
      necessity to pursue follow-up cytogenetic analysis to characterize mosaic 
      patterns and structural abnormalities involving sex chromosomes and their value 
      for prenatal genetic counseling. A workflow showing the performance of current 
      NIPS and cytogenetic analysis for SCA was summarized. These results could 
      facilitate an evidence-based approach to guide prenatal diagnosis of SCA.
CI  - (c) 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley 
      Periodicals LLC.
FAU - Xie, Xiaolei
AU  - Xie X
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
AD  - Prenatal Diagnosis Center, The Sixth Affiliated Hospital of Guangzhou Medical 
      University, Qingyuan People's Hospital, Qingyuan, Guangdong, China.
FAU - Tan, Weihe
AU  - Tan W
AD  - Prenatal Diagnosis Center, The Sixth Affiliated Hospital of Guangzhou Medical 
      University, Qingyuan People's Hospital, Qingyuan, Guangdong, China.
FAU - Li, Fuguang
AU  - Li F
AD  - Prenatal Diagnosis Center, The Sixth Affiliated Hospital of Guangzhou Medical 
      University, Qingyuan People's Hospital, Qingyuan, Guangdong, China.
FAU - Carrano, Eric
AU  - Carrano E
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
AD  - Diagnostic Genetics Sciences Program, University of Connecticut, Storrs, CT, USA.
FAU - Ramirez, Paola
AU  - Ramirez P
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
AD  - Diagnostic Genetics Sciences Program, University of Connecticut, Storrs, CT, USA.
FAU - DiAdamo, Autumn
AU  - DiAdamo A
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
FAU - Grommisch, Brittany
AU  - Grommisch B
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
FAU - Amato, Katherine
AU  - Amato K
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
FAU - Chai, Hongyan
AU  - Chai H
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
FAU - Wen, Jiadi
AU  - Wen J
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
FAU - Li, Peining
AU  - Li P
AUID- ORCID: 0000-0003-4746-4905
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
LA  - eng
PT  - Case Reports
PT  - Evaluation Study
PT  - Journal Article
PT  - Review
PT  - Systematic Review
DEP - 20200508
PL  - United States
TA  - Mol Genet Genomic Med
JT  - Molecular genetics & genomic medicine
JID - 101603758
SB  - IM
MH  - Adult
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Karyotyping/*methods
MH  - Noninvasive Prenatal Testing/*methods
MH  - Sensitivity and Specificity
MH  - *Sex Chromosome Aberrations
MH  - Sex Chromosome Disorders/diagnosis/*genetics
PMC - PMC7336728
OTO - NOTNLM
OT  - chromosome microarray analysis (CMA)
OT  - fluorescence in situ hybridization (FISH)
OT  - karyotyping
OT  - mosaicism
OT  - noninvasive prenatal screening (NIPS)
OT  - sex chromosome abnormalities (SCA)
COIS- The authors have no relevant disclosures or conflict of interest.
EDAT- 2020/05/10 06:00
MHDA- 2021/05/01 06:00
PMCR- 2020/05/08
CRDT- 2020/05/09 06:00
PHST- 2020/03/19 00:00 [received]
PHST- 2020/04/14 00:00 [revised]
PHST- 2020/04/15 00:00 [accepted]
PHST- 2020/05/10 06:00 [pubmed]
PHST- 2021/05/01 06:00 [medline]
PHST- 2020/05/09 06:00 [entrez]
PHST- 2020/05/08 00:00 [pmc-release]
AID - MGG31297 [pii]
AID - 10.1002/mgg3.1297 [doi]
PST - ppublish
SO  - Mol Genet Genomic Med. 2020 Jul;8(7):e1297. doi: 10.1002/mgg3.1297. Epub 2020 May 
      8.