Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing.

Joie O OlayiwolaMohammad MarhabaieDaniel KoboldtTheodora J MatthewsAmy SiemonDanielle MouhlasTaylor PorterGeorge KyleCortlandt MyersHui MeiYing-Chen Claire HouMelanie BabcockJesse HunterKathleen M SchiefferYassmine AkkariShalini ReshmiCatherine E CottrellMariam T MathewMarco L Leung

Published in: Molecular genetics & genomic medicine (2024)

Our CMA study supports the clinical utility of prenatal CMA for clinical management and identifying genetic etiology in POC arrays. In addition, it provides insight to the spectrum of prenatal and POC CMA results as detected in an academic hospital clinical laboratory setting that serves as a reference laboratory.

Keyphrases

pregnant women
copy number
healthcare
emergency department
gene expression
acute care
dna methylation
adverse drug
bioinformatics analysis