Due to its rarity,<unk>  is not screened for in routine prenatal testing including blood tests, chorionic villus sampling (CVS), or amniocentesis. Although not routine for the general population, if<unk>  is a specific concern (i.e. expectant mother who has been diagnosed with<unk>  or sibling with KS), it is possible to test for one of the specific mutations. This prenatal testing does require a CVS or amniocentesis. However<unk>  is usually not inherited and therefore most cases do not have a positive family history.<unk>  can have positive screening tests, such as cystic hygroma seen on nuchal translucency ultrasound screening, although these findings are non-specific and have a wide differential diagnosis.
Kabuki syndrome
SAPHO syndrome
Langer–Giedion syndrome
Kindler syndrome
Hajdu–Cheney syndrome
DiGeorge syndrome
ATR-X syndrome
Saethre–Chotzen syndrome