PMID- 31850057
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20201001
IS  - 1664-8021 (Print)
IS  - 1664-8021 (Electronic)
IS  - 1664-8021 (Linking)
VI  - 10
DP  - 2019
TI  - A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and 
      Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.
PG  - 1162
LID - 10.3389/fgene.2019.01162 [doi]
LID - 1162
AB  - Background: Array comparative genomic hybridization (aCGH), karyotyping and 
      fluorescence in situ hybridization (FISH) analyses have been used in a clinical 
      cytogenetic laboratory. A systematic analysis on diagnostic findings of 
      cytogenomic abnormalities in current prenatal and pediatric settings provides 
      approaches for future improvement. Methods: A retrospective analysis was 
      performed on abnormal findings by aCGH, karyotyping, and FISH from 3,608 prenatal 
      cases and 4,509 pediatric cases during 2008-2017. The diagnostic accuracy was 
      evaluated by comparing the abnormality detection rate (ADR) and the relative 
      frequency (RF) of different types of cytogenomic abnormalities between prenatal 
      and pediatric cases. A linear regression correlation between known prevalence and 
      ADR of genomic disorders was used to extrapolate the prevalence of other genomic 
      disorders. The diagnostic efficacy was estimated as percentage of detected 
      abnormal cases by expected abnormal cases from served population. Results: The 
      composite ADR for numerical chromosome abnormalities, structural chromosome 
      abnormalities, recurrent genomic disorders, and sporadic pathogenic copy number 
      variants (pCNVs) in prenatal cases were 13.03%, 1.77%, 1.69%, and 0.9%, 
      respectively, and were 5.13%, 2.84%, 7.08%, and 2.69% in pediatric cases, 
      respectively. The chromosomal abnormalities detected in prenatal cases (14.80%) 
      were significantly higher than that of pediatric cases (7.97%) (p < 0.05), while 
      the pCNVs detected in prenatal cases (2.59%) were significantly lower than that 
      of pediatric cases (9.77%) (p < 0.05). The prevalence of recurrent genomic 
      disorders and total pCNVs was estimated to be 1/396 and 1/291, respectively. 
      Approximately, 29% and 35% of cytogenomic abnormalities expected from the 
      population served were detected in current prenatal and pediatric diagnostic 
      practice, respectively. Conclusion: For chromosomal abnormalities, effective 
      detection of Down syndrome (DS) and Turner syndrome (TS) and under detection of 
      sex chromosome numerical abnormalities in both prenatal and pediatric cases were 
      noted. For pCNVs, under detection of pCNVs in prenatal cases and effective 
      detection of DiGeorge syndrome (DGS) and variable efficacy in detecting other 
      pCNVs in pediatric cases were noted. Extend aCGH analysis to more prenatal cases 
      with fetal ultrasonographic anomalies, enhanced non-invasive prenatal (NIPT) 
      testing screening for syndromic genomic disorders, and better clinical 
      indications for pCNVs are approaches that could improve diagnostic yield of 
      cytogenomic abnormalities.
CI  - Copyright (c) 2019 Chai, DiAdamo, Grommisch, Xu, Zhou, Wen, Mahoney, Bale, McGrath, 
      Spencer-Manzon, Li and Zhang.
FAU - Chai, Hongyan
AU  - Chai H
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, United 
      States.
FAU - DiAdamo, Autumn
AU  - DiAdamo A
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, United 
      States.
FAU - Grommisch, Brittany
AU  - Grommisch B
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, United 
      States.
FAU - Xu, Fang
AU  - Xu F
AD  - Prevention Genetics, Marshfield, WI, United States.
FAU - Zhou, Qinghua
AU  - Zhou Q
AD  - The First Affiliated Hospital, Biomedical Translational Research Institute, Jinan 
      University, Guangzhou, China.
FAU - Wen, Jiadi
AU  - Wen J
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, United 
      States.
FAU - Mahoney, Maurice
AU  - Mahoney M
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, United 
      States.
FAU - Bale, Allen
AU  - Bale A
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, United 
      States.
FAU - McGrath, James
AU  - McGrath J
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, United 
      States.
FAU - Spencer-Manzon, Michele
AU  - Spencer-Manzon M
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, United 
      States.
FAU - Li, Peining
AU  - Li P
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, United 
      States.
FAU - Zhang, Hui
AU  - Zhang H
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, United 
      States.
LA  - eng
PT  - Journal Article
DEP - 20191120
PL  - Switzerland
TA  - Front Genet
JT  - Frontiers in genetics
JID - 101560621
PMC - PMC6902283
OTO - NOTNLM
OT  - abnormality detection rate
OT  - chromosomal abnormalities
OT  - diagnostic accuracy and efficacy
OT  - microdeletions and microduplications
OT  - pathogenic copy number variants
OT  - prenatal and pediatric diagnosis
OT  - recurrent genomic disorders
OT  - relative frequency
EDAT- 2019/12/19 06:00
MHDA- 2019/12/19 06:01
PMCR- 2019/11/20
CRDT- 2019/12/19 06:00
PHST- 2019/07/21 00:00 [received]
PHST- 2019/10/23 00:00 [accepted]
PHST- 2019/12/19 06:00 [entrez]
PHST- 2019/12/19 06:00 [pubmed]
PHST- 2019/12/19 06:01 [medline]
PHST- 2019/11/20 00:00 [pmc-release]
AID - 10.3389/fgene.2019.01162 [doi]
PST - epublish
SO  - Front Genet. 2019 Nov 20;10:1162. doi: 10.3389/fgene.2019.01162. eCollection 
      2019.