PMID- 36758723
OWN - NLM
STAT- MEDLINE
DCOM- 20230321
LR  - 20230403
IS  - 1943-7811 (Electronic)
IS  - 1525-1578 (Linking)
VI  - 25
IP  - 4
DP  - 2023 Apr
TI  - Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal 
      Diagnostic Testing.
PG  - 234-246
LID - S1525-1578(23)00022-3 [pii]
LID - 10.1016/j.jmoldx.2023.01.006 [doi]
AB  - The standard-of-care diagnostic prenatal testing includes a combination of 
      cytogenetic methods, such as karyotyping, fluorescence in situ hybridization 
      (FISH), and chromosomal microarray (CMA), using either direct or cultured 
      amniocytes or chorionic villi sampling. However, each technology has its 
      limitations: karyotyping has a low resolution (>5 Mb), FISH is targeted, and CMA 
      does not detect balanced structural variations (SVs). These limitations 
      necessitate the use of multiple tests, either simultaneously or sequentially, to 
      reach a genetic diagnosis. Optical genome mapping (OGM) is an emerging technology 
      that can detect several classes of SVs in a single assay, but it has not been 
      evaluated in the prenatal setting. This validation study analyzed 114 samples 
      that were received in our laboratory for traditional cytogenetic analysis with 
      karyotyping, FISH, and/or CMA. OGM was 100% concordant in identifying the 101 
      aberrations that included 29 interstitial/terminal deletions, 28 duplications, 26 
      aneuploidies, 6 absence of heterozygosity regions, 3 triploid genomes, 4 
      isochromosomes, and 1 translocation; and the method revealed the identity of 3 
      marker chromosomes and 1 chromosome with additional material not determined by 
      karyotyping. In addition, OGM detected 64 additional clinically reportable SVs in 
      43 samples. OGM has a standardized laboratory workflow and reporting solution 
      that can be adopted in routine clinical laboratories and demonstrates the 
      potential to replace the current standard-of-care methods for prenatal diagnostic 
      testing.
CI  - Copyright (c) 2023 Association for Molecular Pathology and American Society for 
      Investigative Pathology. Published by Elsevier Inc. All rights reserved.
FAU - Sahajpal, Nikhil S
AU  - Sahajpal NS
AD  - Cytogenetics Laboratory, Greenwood Genetic Center, Greenwood, South Carolina.
FAU - Mondal, Ashis K
AU  - Mondal AK
AD  - Department of Pathology, Medical College of Georgia, Augusta University, Augusta, 
      Georgia.
FAU - Fee, Timothy
AU  - Fee T
AD  - Cytogenetics Laboratory, Greenwood Genetic Center, Greenwood, South Carolina.
FAU - Hilton, Benjamin
AU  - Hilton B
AD  - Cytogenetics Laboratory, Greenwood Genetic Center, Greenwood, South Carolina.
FAU - Layman, Lawrence
AU  - Layman L
AD  - Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta 
      University, Augusta, Georgia.
FAU - Hastie, Alex R
AU  - Hastie AR
AD  - Bionano Genomics, San Diego, California.
FAU - Chaubey, Alka
AU  - Chaubey A
AD  - Bionano Genomics, San Diego, California.
FAU - DuPont, Barbara R
AU  - DuPont BR
AD  - Cytogenetics Laboratory, Greenwood Genetic Center, Greenwood, South Carolina.
FAU - Kolhe, Ravindra
AU  - Kolhe R
AD  - Department of Pathology, Medical College of Georgia, Augusta University, Augusta, 
      Georgia. Electronic address: rkolhe@augusta.edu.
LA  - eng
PT  - Journal Article
DEP - 20230208
PL  - United States
TA  - J Mol Diagn
JT  - The Journal of molecular diagnostics : JMD
JID - 100893612
SB  - IM
MH  - Pregnancy
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Cytogenetic Analysis/methods
MH  - Karyotyping
MH  - *Aneuploidy
MH  - Chromosome Mapping
MH  - Chromosome Aberrations
MH  - Prenatal Diagnosis/methods
MH  - *Chromosome Disorders/diagnosis/genetics
EDAT- 2023/02/10 06:00
MHDA- 2023/03/22 06:00
CRDT- 2023/02/09 19:24
PHST- 2022/10/15 00:00 [received]
PHST- 2022/11/23 00:00 [revised]
PHST- 2023/01/12 00:00 [accepted]
PHST- 2023/02/10 06:00 [pubmed]
PHST- 2023/03/22 06:00 [medline]
PHST- 2023/02/09 19:24 [entrez]
AID - S1525-1578(23)00022-3 [pii]
AID - 10.1016/j.jmoldx.2023.01.006 [doi]
PST - ppublish
SO  - J Mol Diagn. 2023 Apr;25(4):234-246. doi: 10.1016/j.jmoldx.2023.01.006. Epub 2023 
      Feb 8.