3. Conventional genetic diagnostic approach

Currently fetal karyotyping and targeted genetic testing are still most commonly used in the genetic diagnostic evaluation of high-risk pregnancies including morphologically abnormal fetus detected by ultrasound examination and positive result of the screening test or due to parental chromosome rearrangement or genetic disorder with a known pathogenic variant. Despite the recent shift of genetic diagnostics toward genomic approach, the conventional diagnostic approach encompassing the karyotyping and targeted molecular genetic testing is worth noting.
