Fetal Medicine Flashcards

1
Q

What infection causes laryngeal papillomas of the neonate

A

HPV 6 & 11 - genital warts

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2
Q

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

A

Rubella

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

Eye - congenital cataract

Ear- sensorineural deafness

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3
Q

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

A

5 weeks

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4
Q

Describe Holoprosencephaly

What is it associated with

A

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

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5
Q

What % of pregnancies are found to have major structural anomalies

A

2-3%

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6
Q

What % of neonatal deaths are due to congenital malformations

A

20-30%

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7
Q

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

A

50%

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8
Q

When should the anomaly scan be completed

A

18-20+6

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9
Q

How common is anencephaly

A

1:1000

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10
Q

What is an encephalocele

A

Herniation of intracranial content through defect in the skull

75% are occipital

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11
Q

At what gestation is inability to see the bladder abnormal

A

14 weeks

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12
Q

What % of megacystitis resolve if the karyotype is normal

A

90%

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13
Q

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

A

3.5mm

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14
Q

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

A

90%

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15
Q

Regarding anencephaly what is the risk of recurrence

A

2-3%

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16
Q

Define ventriculomegaly

A

Lateral ventricles >10mm

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17
Q

What are the features of spins bifida noted in the brain

A

Lemon shaped skull
Banana cerebellum
Arnold chiari malformation
Enlarged lateral ventricles

18
Q

Describe the features of dandy walker malformation and associations

A

Congenital absence of the cerebellum vermis

Associated chromosomal and genetic abnormalities

19
Q

Regarding spina bifida

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

A

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

20
Q

Regarding fetal anomalies name the condition

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

A

Sacral agenesis

21
Q

In what context are choroid plexus cysts relevant

A

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

22
Q

Regarding fetal anomalies name the condition

Bilateral talipes and polyhydramnios

A

Congenital myotonic dystrophy

23
Q

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

A

35%

24
Q

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

A

6%

25
Q

What is the risk of having congenital cardiac anomaly if

One previous child affected

A

2%

26
Q

What is the risk of having congenital cardiac anomaly if

2 previous children affected

A

10%

27
Q

What is the risk of having congenital cardiac anomaly if

Mother has congenital heart disease

A

6%

28
Q

What is the risk of having congenital cardiac anomaly if

Father has congenital heart disease

A

2%

29
Q

Is there always oligohydramnios with bilateral renal agenesis

A

No liquor volumes may be normal in 1st trimester scan as fetal urine contributes less early

If unilateral prognosis is good, if bilateral lethal

30
Q

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

A

Repeat scan 28-32 weeks and neonatal follow up

31
Q

How often is multicystic dysplastic kidney bilateral

If bilateral what is the prognosis

A

1:15

Lethal if bilateral

32
Q

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

A

30%

Double bubble - duodenal atresia

33
Q

What are the anomalies in the VACTERL acronym

A
Vertebral
Anal atresia
Cardiothoracic
Tracheo-Oesophageal fistula
Eosophageal atresia 
Renal
Limb
34
Q

Regarding Exomphalos

What % is associated with other abnormalities

What are these abnormalities and in what % of cases are they found

A

70-80% associated anomalies

50% cardiac
30% trisomy - 13,18 and 21
10% beckwith wiedeman syndrome

35
Q

What %are offered invasive testing annually

A

5%

36
Q

When is amniocentesis carried out

A

Mainly >15/40

Early <15/40

37
Q

When is CVS carries out

A

11-13+6

Risk of miscarriage may be slightly higher than amnio after 15/40

38
Q

What is the additional risk of miscarriage with amniocentesis

When is the risk higher

A

1%

Risk higher if performed < 15 weeks

39
Q

Regarding twins and invasive testing

If monochorionic and amniocentesis performed, how many sacs should be sampled

A

One

40
Q

Regarding twins and invasive testing

If dichorionic what are the concerns with CVS

A

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

41
Q

Regarding HIV and invasive testing

What are the risks and how can they be reduced

A

Low if early pregnancy and low viral load on treatment

Should delay till treatment started and viral load reduced

42
Q

Regarding Hep B and invasive testing

What factors impact risk of transmission

A

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