PMID- 30678103
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200930
IS  - 2076-3271 (Electronic)
IS  - 2076-3271 (Linking)
VI  - 7
IP  - 2
DP  - 2019 Jan 23
TI  - Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis 
      of Common Aneuploidies and Other Cytogenomic Abnormalities.
LID - 10.3390/medsci7020016 [doi]
LID - 16
AB  - Current prenatal genetic evaluation showed a significantly increase in 
      non-invasive screening and the reduction of invasive diagnostic procedures. To 
      evaluate the diagnostic efficacy on detecting common aneuploidies, structural 
      chromosomal rearrangements, and pathogenic copy number variants (pCNV), we 
      performed a retrospective analysis on a case series initially analyzed by 
      aneuvysion fluorescence in situ hybridization (FISH) and karyotyping then 
      followed by array comparative genomic hybridization (aCGH). Of the 386 cases 
      retrieved from the past decade, common aneuploidies were detected in 137 cases 
      (35.5%), other chromosomal structural rearrangements were detected in four cases 
      (1%), and pCNV were detected in five cases (1.3%). The relative frequencies for 
      common aneuploidies suggested an under detection of sex chromosome aneuploidies. 
      Approximately 9.5% of cases with common aneuploidies showed a mosaic pattern. 
      Inconsistent results between FISH and karyotyping were noted in cases with 
      pseudo-mosaicism introduced by culture artifact or variable cellular 
      proliferation from cells with mosaic karyotypic complements under in vitro cell 
      culture. Based on findings from this case series, cell-based FISH and karyotyping 
      should be performed to detect common aneuploidies, structural chromosomal 
      abnormalities, and mosaic pattern. DNA-based aCGH and reflex FISH should be 
      performed to detect and confirm genomic imbalances and pCNV. Practice points to 
      ensure the diagnostic accuracy and efficacy were summarized.
FAU - Chai, Hongyan
AU  - Chai H
AD  - Laboratory of Clinical Cytogenetics, Department of Genetics, Yale School of 
      Medicine, New Haven, CT 06520, USA. hongyan.chai@yale.edu.
FAU - DiAdamo, Autumn
AU  - DiAdamo A
AD  - Laboratory of Clinical Cytogenetics, Department of Genetics, Yale School of 
      Medicine, New Haven, CT 06520, USA. autumn.diadamo@yale.edu.
FAU - Grommisch, Brittany
AU  - Grommisch B
AD  - Laboratory of Clinical Cytogenetics, Department of Genetics, Yale School of 
      Medicine, New Haven, CT 06520, USA. brittany.grommisch@yale.edu.
FAU - Boyle, Jennifer
AU  - Boyle J
AD  - Laboratory of Clinical Cytogenetics, Department of Genetics, Yale School of 
      Medicine, New Haven, CT 06520, USA. jennifer.boyle@yale.edu.
FAU - Amato, Katherine
AU  - Amato K
AD  - Laboratory of Clinical Cytogenetics, Department of Genetics, Yale School of 
      Medicine, New Haven, CT 06520, USA. Katherine.wilcox@yale.edu.
FAU - Wang, Dongmei
AU  - Wang D
AD  - Laboratory of Clinical Cytogenetics, Department of Genetics, Yale School of 
      Medicine, New Haven, CT 06520, USA. dongmei.wang@yale.edu.
FAU - Wen, Jiadi
AU  - Wen J
AD  - Laboratory of Clinical Cytogenetics, Department of Genetics, Yale School of 
      Medicine, New Haven, CT 06520, USA. jiadi.wen@yale.edu.
FAU - Li, Peining
AU  - Li P
AD  - Laboratory of Clinical Cytogenetics, Department of Genetics, Yale School of 
      Medicine, New Haven, CT 06520, USA. peining.li@yale.edu.
LA  - eng
PT  - Journal Article
DEP - 20190123
PL  - Switzerland
TA  - Med Sci (Basel)
JT  - Medical sciences (Basel, Switzerland)
JID - 101629322
PMC - PMC6410168
OTO - NOTNLM
OT  - amniotic fluid (AF)
OT  - aneuploidies
OT  - array comparative genomic hybridization (aCGH)
OT  - chorionic villus sampling (CVS)
OT  - confined placental mosaicism (CPM)
OT  - fluorescence in situ hybridization (FISH)
OT  - karyotype
OT  - pathogenic copy number variants (pCNV)
OT  - pseudo-mosaicism
OT  - true fetal mosaicism (TFM)
COIS- The authors have no conflict of interest to disclose.
EDAT- 2019/01/27 06:00
MHDA- 2019/01/27 06:01
PMCR- 2019/01/23
CRDT- 2019/01/26 06:00
PHST- 2018/12/13 00:00 [received]
PHST- 2019/01/10 00:00 [revised]
PHST- 2019/01/21 00:00 [accepted]
PHST- 2019/01/26 06:00 [entrez]
PHST- 2019/01/27 06:00 [pubmed]
PHST- 2019/01/27 06:01 [medline]
PHST- 2019/01/23 00:00 [pmc-release]
AID - medsci7020016 [pii]
AID - medsci-07-00016 [pii]
AID - 10.3390/medsci7020016 [doi]
PST - epublish
SO  - Med Sci (Basel). 2019 Jan 23;7(2):16. doi: 10.3390/medsci7020016.