Spinal cord defects. Cardiac defects. Urogenital defects: Abnormal genitalia (e. g. undescended testicle ). Kidney defects.
Ultrasounds of the heart (Echocardiogram) are very important due to high frequency of cardiac defects related with this genetic disorder.
Findings include increased nuchal translucency, cardiac defects, neural tube defects, facial clefting, renal abnormalities and omphalocele A study from Kings College Hospital