Foetal Anomaly Screening

Question 1

When is pregnancy-associated plasma protein A screening most useful

Answer 1

1st trimester

Question 2

What does a low PAPPA level indicate

Answer 2

• chromosomal abnormalities
• high risk of IUGR
• high risk of placental abruption
• high risk of stillbirth

Question 3

When is a maternal uterine artery Doppler most useful

Answer 3

20-23 weeks

Question 4

What do abnormal waveforms in a maternal uterine artery Doppler indicate

Answer 4

• pre-eclampsia
• IUGR
• placental abruption
• other adverse neonatal outcomes in early 3rd trimester

Question 5

In Down’s screening,

What tests should be done between 11-14 weeks

Answer 5

1. USS Nuchal translucency measurement

2. Beta hCG + PAPPA bloods

Question 6

In Down’s screening,

What tests should be done between 15 weeks

Answer 6

Triple or quadruple test

Question 7

What do the triple and quadruple Down’s test consist of?

Answer 7

TRIPLE

1. AFP
2. unconjugated estriol
3. beta-hCG

QUADRUPLE: above +
4. Inhibin A

Question 8

In Down’s syndrome, what changes are associated with the following

1. Alpha fetoprotein
2. Estriol
3. Beta hCG
4. Inhibin A
5. PAPP-A
6. Nuchal translucency

Answer 8

1. Alpha fetoprotein (–)
2. Estriol (–)
3. Beta hCG (++)
4. Inhibin A (++)
5. PAPP-A (–)
6. Nuchal translucency (++)

Question 9

List the names of the following trisomies

• 13
• 18
• 21

Answer 9

13: Patau’s
18: Edward’s
21: Down’s

Question 10

3 types of congenital CNS abnormalities

Answer 10

1. Spina bifida
2. Anencephaly
3. Ventriculomegaly

Question 11

3 causes of congenital ventriculomegaly

Answer 11

1. NTDs
2. Aqueduct stenosis
3. Complete/ partial absence of corpus callosum

Question 12

4 risk factors for congenital cardiac abnormalities

Answer 12

1. Mother has congenital cardiac disease/ other chromosomal disorder
2. Diabetes
3. Epilepsy
4. Previous affected offspring

Question 13

What is exomphalos

Answer 13

Partial extrusion of abdominal contents in peritoneal sac

Question 14

What is gastroschisis

Answer 14

Free loops of bowel in amniotic cavity

Question 15

Is exomphalos or gastroschisis worse

Answer 15

Exomphalos

as it is associated with chromosomal problems, whereas gastroschisis is not

Question 16

What is pulmonary hypoplasia?

Causes

Answer 16

Incomplete development of the lungs

Causes

• congenital diaphragmatic hernia
• pleural effusion

Question 17

What congenital GI defect is commonly associated with Down’s syndrome?

Finding on USS

Answer 17

Duodenal atresia

USS: double bubble
stomach + dilated upper duodenum

Question 18

5 causes of foetal hydrops

Answer 18

1. Rhesus disease
2. Chromosome anomalies
3. Structural anomalities (eg pleural effusion, cardiac abnormalities)
4. Anaemia causing heart failure
5. Twin to twin transfusion syndrome in monochorionic twins