Fetal Medicine

Question 1

What infection causes laryngeal papillomas of the neonate

Answer 1

HPV 6 & 11 - genital warts

Question 2

A triad of cardiac, eye and ear symptoms is caused by which congenital infection

Answer 2

Rubella

Cardiac - patent ductus, pulmonary valvular stenosis, coarctation of the aorta, ASD, VSD

Eye - congenital cataract

Ear- sensorineural deafness

Question 3

How long after presentation with varicella should a fetal USS be done

Answer 3

5 weeks

Question 4

Describe Holoprosencephaly

What is it associated with

Answer 4

Forebrain fails to develop into two hemispheres

Other features: fused thalami or ventricles, absence of cavum septi pellucidi, dysgenesis of the corpus callosum

Trisomy 13, 18, triploidy and warfarin

Question 5

What % of pregnancies are found to have major structural anomalies

Answer 5

2-3%

Question 6

What % of neonatal deaths are due to congenital malformations

Answer 6

20-30%

Question 7

What is the detection rate of serious cardiac anomalies at the anomaly scan

Answer 7

50%

Question 8

When should the anomaly scan be completed

Answer 8

18-20+6

Question 9

How common is anencephaly

Answer 9

1:1000

Question 10

What is an encephalocele

Answer 10

Herniation of intracranial content through defect in the skull

75% are occipital

Question 11

At what gestation is inability to see the bladder abnormal

Answer 11

14 weeks

Question 12

What % of megacystitis resolve if the karyotype is normal

Answer 12

90%

Question 13

A NT measurement of more than what is associated with an increased risk of fetal chromosomal anomalies

Answer 13

3.5mm

Question 14

What is the probability of pulmonary hypoplasia if prom occurs at 21 weeks

Answer 14

90%

Question 15

Regarding anencephaly what is the risk of recurrence

Answer 15

2-3%

Question 16

Define ventriculomegaly

Answer 16

Lateral ventricles >10mm

Question 17

What are the features of spins bifida noted in the brain

Answer 17

Lemon shaped skull
Banana cerebellum
Arnold chiari malformation
Enlarged lateral ventricles

Question 18

Describe the features of dandy walker malformation and associations

Answer 18

Congenital absence of the cerebellum vermis

Associated chromosomal and genetic abnormalities

Question 19

Regarding spina bifida

What is the risk of recurrence after 1, 2 & 3 affected pregnancies

Answer 19

5% after one affected pregnancy
12% after two affected pregnancies
20% after three affected pregnancies

Question 20

Regarding fetal anomalies name the condition

a-FP normal
Associated genitourinary and gastrointestinal abnormalities
Strong association with maternal diabetes

Answer 20

Sacral agenesis

Question 21

In what context are choroid plexus cysts relevant

Answer 21

In the context of other fetal anomalies, the risk of trisomy 18 is 1:2

Question 22

Regarding fetal anomalies name the condition

Bilateral talipes and polyhydramnios

Answer 22

Congenital myotonic dystrophy

Question 23

Cardiac disease accounts for what % of deaths secondary to congenital disease

Answer 23

35%

Question 24

What is the risk of congenital cardiac anomaly with NT >3.5mm and a normal karyotype

Answer 24

6%

Question 25

What is the risk of having congenital cardiac anomaly if One previous child affected

Answer 25

2%

Question 26

What is the risk of having congenital cardiac anomaly if 2 previous children affected

Answer 26

10%

Question 27

What is the risk of having congenital cardiac anomaly if Mother has congenital heart disease

Answer 27

6%

Question 28

What is the risk of having congenital cardiac anomaly if Father has congenital heart disease

Answer 28

2%

Question 29

Is there always oligohydramnios with bilateral renal agenesis

Answer 29

No liquor volumes may be normal in 1st trimester scan as fetal urine contributes less early If unilateral prognosis is good, if bilateral lethal

Question 30

What is the management if renal pelvic dilatation when diagnosed at anomaly scan

Answer 30

Repeat scan 28-32 weeks and neonatal follow up

Question 31

How often is multicystic dysplastic kidney bilateral If bilateral what is the prognosis

Answer 31

1:15 Lethal if bilateral

Question 32

What is the risk of trisomy 21 if double bubble sign seen

Answer 32

30% Double bubble - duodenal atresia

Question 33

What are the anomalies in the VACTERL acronym

Answer 33

``` Vertebral Anal atresia Cardiothoracic Tracheo-Oesophageal fistula Eosophageal atresia Renal Limb ```

Question 34

Regarding Exomphalos What % is associated with other abnormalities What are these abnormalities and in what % of cases are they found

Answer 34

70-80% associated anomalies 50% cardiac 30% trisomy - 13,18 and 21 10% beckwith wiedeman syndrome

Question 35

What %are offered invasive testing annually

Answer 35

5%

Question 36

When is amniocentesis carried out

Answer 36

Mainly >15/40 Early <15/40

Question 37

When is CVS carries out

Answer 37

11-13+6 Risk of miscarriage may be slightly higher than amnio after 15/40

Question 38

What is the additional risk of miscarriage with amniocentesis When is the risk higher

Answer 38

1% Risk higher if performed < 15 weeks

Question 39

Regarding twins and invasive testing If monochorionic and amniocentesis performed, how many sacs should be sampled

Answer 39

One

Question 40

Regarding twins and invasive testing If dichorionic what are the concerns with CVS

Answer 40

High risk of contamination of chorionic tissue - false + or false -

Question 41

Regarding HIV and invasive testing What are the risks and how can they be reduced

Answer 41

Low if early pregnancy and low viral load on treatment Should delay till treatment started and viral load reduced

Question 42

Regarding Hep B and invasive testing What factors impact risk of transmission

Answer 42

Maternal viral load, risk of transmission overall thought to be low