Molecular cytogenetic characterization of 16p11.2 microdeletions with diverse prenatal phenotypes: Four cases report and literature review.

For: All,

This study reports four cases where 16p11.2 microdeletions (both proximal and distal) were detected prenatally through amniocentesis and chromosomal microarray analysis (CMA), highlighting the diverse and often subtle ultrasound findings that can appear before birth and offering guidance for families considering future pregnancies through preimplantation genetic testing.