Trisomy 21 

– Down syndrome
Features include:

 duodenal atresia
 AVSD
 other cardiac abnormalities including VSD
 nuchal thickening
 mild ventriculomegaly
 macroglossia
 clinodactyly
 sandal gap
 mild dilatation of the renal pelvis
 short humerus
 short femur
 pericardial effusion
 echogenic bowel
 exomphalos
 pleural effusion.

Trisomy 18 – Edwards syndrome

Features include:

 choroid plexus cysts

 fixed flexion and overlapping of fingers
 bilateral talipes or rockerbottom feet
 strawberry-shaped skull
 micrognathia
 heart abnormalities
 exomphalos
 diaphragmatic hernia.

Trisomy 13 – Patau’s syndrome

 Features include:

 holoprosencephaly
 midline or bilateral facial clefting
 growth retardation
 polydactyly
 heart abnormality.

Triploidy
Features include:

 early onset severe growth restriction

 oligohydramnios
 hydropic or cystic placenta
 holoprosencephaly
 syndactyly
 talipes and wide separation of first and second toes.

X0 – Turner syndrome
Features include:

 cystic hygroma
 coarctation of aorta.

Meckel Gruber
This is autosomal recessive and features include:

 occipital encephalocele
 polycystic kidneys
 microcephaly
 polydactyly.

Beckwith Wiedemann
 Features include:

 exomphalos
 large echogenic kidneys
 macrosomia
 macroglossia.