Major Findings In Trisomies & Turners Syndrom

Question 1

Cranium- none
Brain- holoprosencephaly
Face- cleft lip/ palate, hypotelorism, proboscis, cyclopia
Neck- none
Thorax- none
Heart- VSD,ASD
Abdomen- Omphalocele
Kidneys- Multicystic
Extremities- Polydactyly
Other- IUGR

Answer 1

Trisomy 13

Question 2

Cranium- “Strawberry” cranium
Brain-Choroid plexus cysts
Face- Micrognathia
Neck- Increased NT
Thorax- Diaphramatic hernia
Heart- VSD, ASD
Abdomen-Omphalocel
Kidneys- none
Extremities- clenched/flexed hands “ rocker bottom” feet
Other-IUGR, single umbilical artery

Answer 2

Trisomy 18

Question 3

Cranium- none
Brain- mild ventriculomegaly
Face- Absent nasal bone
Neck- increased NT, NF
Thorax- Pleural effusion
Heart- AV canal defect, EIF
Abdomen-duodenal atresia, hyperechoic bowel
Kidneys- pyeleictasis
Extremities- short femur/ humerus clinodactyly
Other-none

Answer 3

Trisomy 21

Question 4

Cranium- none
Brain- none
Face- none
Neck- cystic hydroma
Thorax- pleural effusion
Heart- aortic coarctation
Abdomen- ascites
Kidneys- none
Extremities- none
Other- hydrops fetalis ( non- immune); female fetus

Answer 4

Turner’s