Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome

Conclusions
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.

Source: Journal of Medical Genetics - December 23, 2022 Category: Genetics & Stem Cells Authors: Daum, H., Segel, R., Meiner, V., Goldberg, Y., Zeligson, S., Weiss, O., Stern, S., Frumkin, A., Zenvirt, S., Ganz, G., Shkedi-Rafid, S. Tags: Copy-number variation Source Type: research