Trisomy Disorders

1.       Trisomy 21:

• thickened nuchal fold 
• duodenal atresia    
• absent/ypoplastic nasal bone
• short femurs and humeri
• echogenic bowel
• echogenic intracardiac focus
• pyelactasis (dilation of renal pelvis)
• Heart defect

 

2.       Trisomy 18 (Edward’s)

• CP cyst
• Strawberry-shaped skull
• Abnormal cerebellum
• Abnormal CM
• Cystic hygroma
• Micrognathia
• Omphalocele
• Diaphragmatic hernia
• Clenched hands
• Clubfeet
• IUGR + polyhydramnios
• Ectopia cordis (heart out of chest)

 

 

3.       Trisomy 13 (Patau’s)

• Holoprosencephaly
• Microcephaly
• Facial clefts
• Ocular anomalies
• Echogenic intracardiac focus
• Cystic hygroma
• Echogenic kidneys
• Dandy-walker malformation
• Abnormal hand configuration