Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome.
Hagit DaumReeval SegelVardiella MeinerYael GoldbergSharon ZeligsonOmri WeissShira SternAyala FrumkinShamir ZenvirtGael GanzShiri Shkedi-RafidPublished in: Journal of medical genetics (2022)
Our suggested DDT will help clinicians to quantitatively weigh the variables associated with CNVs of this type and arrive at a well thought out clinical decision regarding disclosure. Although the prevalence of late-onset conditions as a major finding in the prenatal setup is low, it is expected to rise with the increasing use of non-invasive CMA testing and whole exome and genome sequencing.