Table 3.

Referral indications and WES yield, according to US findings in specific organ or body systems (among 41 families with US abnormalities).

Organ/body system	Number of families referred due to indication (N,%)	Families with molecular diagnosis (N,%)
Brain	10 (24.4%)	6/10 (60%)
Renal	14 (34.1%)	6/14(42.9%)
Musculoskeletal (∗)	18 (43.9%)	10/18 (55.6%)
Cardiac malformation	6 (14.6%)	1/6 (16.7%)
Increased NT(∗∗)/edema/hydrops signs	11 (26.8%)	3/11 (27.3%)

Part of the families were classified to more than single organ/body system group, while others to none.

^∗Distal limbs anomalies (e.g., polydactyly, syndactyly, clubfoot etc.) were included in this group, but not orofacial malformations.

^∗∗Increased NT was defined as above 3 mm.