Turner syndrome

Question 1

What ultrasound findings would lead you to suspect Turner?

Answer 1

• Cystic hygroma
• Coarctation of aorta in female fetus
• Pelvic Kidneys
• Short limbs
• Lymphedema
• Retrograde DV flow
• Bicuspid aortic valve

Question 2

What is Turner?

Answer 2

Presence of only one X chromosome or presence of partially missing or rearranged X chromosome

Question 3

How does Turner occur?

Answer 3

Instability of the Y chromosome in the sperm. 80% occur when an egg fertilized with sperm lacking a X chromosome

Question 4

Is Turner associated with maternal age?

Answer 4

No

Question 5

What are the phenotypic features of Turner?

Answer 5

• Short stature (SHOX gene defect)
• Webbed neck
• Low hair line at the back
• Coarctation of the aorta
• Renal defect
• Gonadal dysgenesis

Question 6

How do you counsel a patient at 12 weeks with confirmed fetal Turner syndrome?

Answer 6

Condition can lead to miscarriage. There is an increased risk of cardiac anomaly.

80% die between 10 weeks and term

Question 7

What percentage of first trimester spontaneous abortions are related to Turner syndrome?

Answer 7

10%

Question 8

What percentage of fetuses with cystic hygroma in the first trimester will be diagnosed with Turner syndrome?

Answer 8

28%

Question 9

What anomalies are more common in fetuses with Turner syndrome?

Answer 9

Cystic hygroma (60%) (first trimester >90% of cases have very large NT)
Coarctation of aorta (45%)
Hypoplastic left heart (15%)
Bicuspid aortic valve

Question 10

How do you counsel a patient regarding recurrence risks for Turner syndrome?

Answer 10

1% because its sporadic