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congenital infections anomalies and neonates Flashcards

1
Q

The following drugs can all be used during breast-feeding except:

  1. amiodarone
  2. warfarin
  3. methadone
A

  1. Amiodarone

can be high in breast milk, can cause hypothyroidism in infant and cardiac effects

methadone + warfarin: compatible

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2
Q

Complications in the fetus from indomethacin in pregnancy include:

  1. renal insufficiency
  2. oligohydramnios
  3. premature closure of the ductus arteriosus
  4. all of the above
  5. none of the above
A
  1. all of the above

Indomethasin: prostaglandin synthetase inhibitor.

Has historically been used as a tocolytic, and is superior to other tocolytics delaying labour 48h->7d. However, increased neonatal complications including oligohydramnios, renal failure, necrotizing enterocolitis, intraventricular hemorrhage, and closure of the patent ductus arteriosus have been reported with the use of indomethacin

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3
Q

Cardiovascular changes at birth:

  1. the brain is the organ that receives the most dramatic increase in blood flow
  2. pulmonary vascular resistance and pulmonary blood flow decrease
  3. foramen ovale is a flap valve that becomes functionally closed when L atrial pressure exceeds R atrial pressure
  4. prostaglandins have a minor role in physiological closure of ductus arteriosus
A
  1. foramen ovale is a flap valve that becomes functionally closed when L atrial pressure exceeds R atrial pressure
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4
Q

A patient has a termination of pregnancy at 18 weeks for an open neural tube defect. What is the risk of recurrent NTD in her next pregnancy?

  1. 1%
  2. 2%
  3. 5%
  4. 10%
  5. 50%
A
  1. 5%

Risk after 1 is 5% rising to 10% if 2 previous affected fetuses

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5
Q

Same patient consults you at 10/40 in her next pregnancy. Best advice:

  1. should have another TOP due to high recurrence risk of NTD
  2. should commence folic acid now
  3. should have amniocentesis at 16/40
  4. should have US at 11/40
A
  1. should have US at 11/40

Neural tube closure is completed 28 days (four weeks) from conception, and the preventive effect of folic acid is not effective after that period. Moreover, highest serum folate levels require at least three weeks of treatment with folic acid

hence folate supplementation should start at least one month before conception and continue until at least two months after conception.

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6
Q

What is the blood volume of a newborn baby weighing 3500gm?

  1. 150 ml
  2. 250 ml
  3. 300 ml
  4. 350 m
  5. 400 ml
A
  1. 300ml.

For term neonate blood volume 85ml/kg

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7
Q

An ultrasound examination reveals that your patient has a fetus with gastroschisis. You advise her that:

  1. The fetus has >30% chance of an associated chromosomal abnormality (1%)
  2. Surgical repair is successful in <20% of cases (70%)
  3. It is uncertain whether LUSCS confers any advantages over NVD
  4. The infant is likely to have severe mental retardation
A
  1. It is uncertain whether LUSCS confers any advantages over NVD

Gastroschisis – small paraumbilical defect with visceral herniation. Umbilical cord insertion is adjacent to and separate from the defect. Stomach usually malpositioned, usually only intestine herniates. Intestinal mass lacks covering membrane and floats freely in the amniotic fluid.

Most have no extraintestinal abn, 10% assoc with major unrelated defects, 2% part of recognised syndrome, 2-3% with cardiac anomalies. 25% asscociated with additional intestinal abn ( malrotation, atresia, stenosis, volvulus, meckels, bladder herniation (6%), oligo or polyhydram. No increase in aneuploidy when isolated or simple.

Gastroschisis has been observed in some cases of Smith-Lemli-Opitz syndrome [48]. Smith–Lemli–Opitz syndrome (also SLOS, or 7-dehydrocholesterol reductase deficiency) is an inborn error of cholesterol synthesis.[1] It is an autosomal recessive

Ddx - Omphalocele. The membranous sac helps to distinguish omphalocele from gastroschisis; however, membranes occasionally rupture in utero. If the membrane ruptures, the locations of the liver and cord insertion site can help to differentiate an omphalocele from gastroschisis. Omphalocele is often associated with an extracorporeal liver,while the liver is typically intracorporeal in gastroschisis. The cord insertion site is into an umbilical sac in omphalocele and paraumbilical onto otherwise intact abdominal wall in gastroschisis. Gastroschisis is associated with a lower rate of associated defects than omphalocele (32 versus 80 percent in one large study and 8 versus 35 percent in another large study)

Antenatal risks: Assoc with FGR, ( 30-60%), IUD ( 3-6%), Spont PTB ( 30%). Bowel dilatation and thickening.

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8
Q

What is the fetal PaO2 at term?

  1. 22 mmHg
  2. 32 mmHg
  3. 42 mmHg
  4. 52 mmHg
  5. 62 mmHg
A
  1. 32 mmHg

26-32mmHg

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9
Q

What is the cord pH at term immediately after a normal labour and delivery?

  1. Vein 7.3, artery 7.27
  2. Vein 7.27, artery 7.3
  3. Vein 7.5, artery 7.2
  4. Vein 7.2, artery 7.5
A
  1. Vein 7.3, artery 7.27

Venous 7.32-7.35

Artery 7.28

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10
Q

Which of these crosses the placenta the least?

  1. TSH
  2. T4
  3. TRH
  4. Propylthiouracil
A
  1. TSH

Maternal TSH does not cross the placenta, but thyrotropin releasing hormone (TRH) does cross the placental barrier.

The fetal thyroid does not begin to concentrate iodine until 10–12 weeks of gestation, and the synthesis and secretion of thyroid hormone controlled by fetal pituitary thyroid stimulating hormone (TSH) ensues at approximately 20 weeks of gestation, the fetus is reliant on maternal thyroxine, which cross the placenta in small quantities to maintain normal fetal thyroid function.

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11
Q

Which of the following is least likely to be associated with aneuploidy?

  1. duodenal atresia
  2. omphalocoele
  3. gastroschisis
  4. mental retardation
  5. congenital heart disease
A
  1. gastroschisis

duodenal atresia: 30% t21

omphalocele: 15% ( wikipedia!)
gastroschisis: The incidence of chromosomal abnormalities and genetic syndromes is not increased. (FMF)

mental retardation: ~10%. chromosomal anomalies

CHD: up to 30% associated with aneuploidies

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12
Q

Which of the following drugs will affect the fetus adversely if used during pregnancy?

  1. Flagyl
  2. Heparin
  3. Thiazide diuretics
  4. Azothiaprine
A
  1. thiazide

Flagyl preg category B

Heparin safe

Thiazides cat C- Thiazide diuretics cross the placenta and are found in cord blood. thiazide diuretics may cause an increased riskof congenital defects. Hypoglycemia, hypokalemia, hyponatremia, jaundice, and thrombocytopenia are also reported as possible complications to the fetus or newborn.

Azothiaprine cat D but we use it!:

Azathioprine was found to be teratogenic in animal studies. Although anomalies occurred in rodents exposed to the drug in utero, AZA has not been identified as a human teratogen

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13
Q

The most common cause of term infant mortality is:

  1. congenital abnormalities
  2. infection
  3. NEC
  4. Bronchopulmonary dysplasia
  5. IVH
A
  1. congenital anomalies

(PSANDZ data for term neonatal death: unexplained,> anomalies> perinatal infection>then FGR)

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14
Q

You see a patient with bipolar disease on Lithium 900mg /day. The risks to the fetus include:

  1. CNS abnormalities
  2. Cardiac abnormalities
  3. Renal anomalies
  4. Postmaturity
A
  1. cardiac anomalies
    - ebsteins anomaly, coarctation, and mitral atresia
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15
Q

Fetal cystic hygroma is most associated with:

  1. trisomy 21
  2. trisomy 18
  3. 45 XO
  4. mosaicism
  5. 47 XXX
A
  1. 45 XO

Chromosomal abnormalities, mainly Turner syndrome, are found in about 50% of cases. (FMF)

Cystic hygroma is caused by defects in the formation of the neck lymphatics. It is the most common form of lymphangioma (75% are located on the neck, 20% in the axillary region and 5% on the chest wall, abdominal wall and extremities).

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16
Q

Match the following antihypertensive agents to their mechanism of action

  1. Nifedpipine
  2. .hydralazine
  3. methyldopa
  4. propranolol
  5. labetolol

a) Ca channel blocker
b) alpha and beta blocker
c) beta blocker
d) vasodilator
e) none of the above

A

1A, 2-d, 3-e, 4 –c, 5 – b

methyldopa: alpha adrenergic agonist

propanolol non selective b blocker

labetalol b blocker with a blocker

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17
Q

Phenytoin is associated with all of the following except:

  1. IUGR
  2. Mental retardation
  3. Spina bifida
  4. Cardiac anomalies
  5. Cleft palate
A
  1. Spina bifida

Reported malformations include orofacial clefts, cardiac defects, dysmorphic facial features, nail/digit hypoplasia, growth abnormalities including microcephaly, and mental deficiency. Isolated cases of malignancies (including neuroblastoma) and coagulation defects in the neonate (may be life threatening) following delivery have also been reported

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18
Q

Neonatal thyroid function, which are true:

  1. increase in thyroxine after birth in preterm but not term infants
  2. neonatal rise in T4 due to TSH increase
  3. thyroxine is involved in shivering but not non-shivering thermogenesis
A

2.neonatal rise in T4 due to TSH increase

(note that T4 crosses placenta so proportion of t4 circulating infant, following delivery this is no longer there hence needs increased TSH to stimulate thyroid to secrete T4)

Serum TSH rises abruptly after birth in healthy term infants.

The rise in TSH stimulates thyroidal T4 secretion

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19
Q

A woman with bipolar affective disorder on lithium presents at 11/40. Serum lithium is 1.0 (0.9-1.4). She should be told:

  1. lithium is suspected of causing heart defects
  2. to cease lithium now will reduce risk to the baby
  3. to reduce dose will reduce risk to baby
  4. she should have CVS
  5. should have amniocentesis at 16/40
A
  1. lithium is suspected of causing heart defects
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20
Q

Which drug should not be used in lactation

  1. amiodarone
  2. warfarin
  3. digoxin
  4. propylthiouracil
A
  1. Amiodarone

lactation category:

Amiodarone- L5 (hazardous)

warfarin- L2 (probably compatible)

digoxin -L2 (probably compatible)

propylthiouracil- L2 (probably compatible)

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21
Q

Which of the following is the most common cause of neonatal hyperthyroidism?

  1. previous thyroidectomy on thryoxine
  2. Graves disease treated with PTU
  3. Maternal exposure to I131 during pregnancy
  4. Iodine deficiency goitre
  5. Maternal Hashimoto’s thyroiditis
A

Graves disease treated with PTU

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22
Q

Most likelycause of perinatal mortality with diabetes?

  1. fetal hypoglycaemia
  2. congenital abnormality
  3. APH
  4. Fetal hyperinsulinaemia
  5. PIH
A
  1. congenital abnormality
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23
Q

Advise young parents of recurrence rate for neural tube defects after birth of infant with myelomeningocele:

  1. 2%
  2. 5%
  3. 10%
  4. 20%
  5. very rare
A
  1. 5%
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24
Q

What is phenytoin not associated with?

  1. mental retardation
  2. cleft palate
  3. spina bifida
  4. CVS defects
A
  1. spina bifida
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25
Q

Woman’s daughter has just had VSD successfully repaired age 18 months and asks what chance next baby has cardiac lesion

  1. 1%
  2. 2-5%
  3. 10%
  4. 15%
  5. 50%
A
  1. 2-5%
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26
Q

A woman found to have an AFP level 0.2-0.3 multiples of the median at 16 weeks. This level is associated with ?

  1. 47 XXY
  2. XXX
  3. Turners
  4. Trisomy 21
  5. Mosaicism
A
  1. Trisomy 21
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27
Q

Management in suspected fetal hypothyroidism?

  1. give mother thyroxine
  2. intraamniotic thryoixine
  3. do nothing in utero but give thryroxine to neonate
  4. none of the above
A
  1. intraamniotic thryoixine
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28
Q

To pick up most no. of causes of neonatal hypothryoidism

  1. TSH only
  2. TSH first and if elevated do T4
  3. Both TSH and T4
  4. T3
A
  1. both TSH and T4
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29
Q

Primip with no antenatal care delivers 1000 gm baby at 28/40. What is most likely cause of death?

  1. sepsis
  2. temp instability
  3. intracranial haemorrhage
  4. RDS
A
  1. RDS
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30
Q

What features are suggestive of neonatal hypothyroidism – except?

  1. hypotonia
  2. atypical fascies
  3. open posterior fontanelle
  4. slow heart rate in labour
A
  1. slow heart rate in labour

reduced variability common, not slow HR

Signs/symptoms:

Decreased activity

Large anterior fontanelle

Poor feeding and weight gain

Small stature or poor growth

Jaundice

Decreased stooling or constipation

Hypotonia

Hoarse cry

Coarse facial features

Macroglossia

Large fontanelles

Umbilical hernia

Mottled, cool, and dry skin

Developmental delay

Pallor

Myxedema

Goiter

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31
Q

Which is category A drug?

  1. ondansetron
  2. maxalon
  3. augmentin
  4. phenytoin
  5. betamethasone
A
  1. maxalon
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32
Q

Which of the drugs in is a catergory C

  1. ondansetron
  2. maxalon
  3. augmentin
  4. phenytoin
  5. betamethasone
A
  1. betamethasone

augmentin b1, ondansetron b1, phenytoin is d, betameth is c, maxolon is a

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33
Q

Anenchoic masses are seen in the fetal abdomen on US. Dx:

  1. intestinal obstruction
  2. cardiac abnormality
  3. downs syndromes
  4. renal aplasia
  5. oesophageal atresia
A
  1. intestinal obstruction
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34
Q

Down’s syndrome is associated with all except

  1. long femur and humerus
  2. duodenal atresia
  3. increased nuchal thickness
  4. VSD
  5. ear abnormalities
A
  1. long femur and humerus
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35
Q

Low MSAFP, HCG and oestriol is associated with?

  1. T13
  2. T18
  3. T21
  4. XO
  5. Triploidy
A
  1. T18
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36
Q

Triple screen is also useful to detect all except:

  1. multiple pregnancy
  2. T13
  3. T18
  4. XO
A
  1. XO
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37
Q

Phenytoin associated with all except:

  1. IUGR
  2. Palate defects
  3. CHD
  4. Spina bifida
  5. Micocephaly
A
  1. Spina bifida
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38
Q

Essential hypertension in 1sttrimester. All drugs are acceptable except:

  1. labetolol
  2. aprenolol
  3. Aldomet
  4. Captopril
  5. Hydralazine
A
  1. Captopril
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39
Q

What is this syndrome – choroid plexus cysts, cystic hygroma, absent 3rdand 4thdigits?

  1. CMV
  2. Rubella
  3. T21
  4. T18
  5. T13
  6. Turners syndrome
A

Answer 4 : t18

(prev ppl put 6 but abn of digits makes d more likely)

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40
Q

The incidence of a chromosomal anomaly with omphalocele is:

  1. less than 10%
  2. 10-20%
  3. 30-40%
  4. 50-60%
A
  1. 30-40%
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41
Q

The expected weight of a 28 week fetus to deliver is:

  1. 600 gms
  2. 800 gms
  3. 1100 gms
  4. 1300 gms
  5. 1600 gms
A
  1. 1100g
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42
Q

Which one crosses the placenta

  1. heparin only
  2. warfarin only
  3. heparin and warfarin
  4. none of the above
A
  1. warfarin only
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43
Q

Which one is monitored by bleeding time?

  1. heparin only
  2. warfarin only
  3. heparin and warfarin
  4. none of the above
A
  1. none of the above
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44
Q

Which one causes stripling of the epiphysis?

  1. heparin only
  2. warfarin only
  3. heparin and warfarin
  4. none of the above
A
  1. warfarin only
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45
Q

Which one causes lysis of the thromboses?

  1. heparin only
  2. warfarin only
  3. heparin and warfarin
  4. none of the above
A

4, none of the above

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46
Q

Which chromosomal abnormality doesn’t increase in frequency with increased maternal age?

  1. trisomy 21
  2. trisomy 18
  3. Turners XO
  4. XXY
A
  1. Turners XO
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47
Q

Thyroid hormone:

  1. increase immediately after birth in pre-term but not term infants
  2. increases at birth due to a surge of TSH
  3. cause shivering but not non-shivering thermogenesis
  4. is essential for normal fetal development
  5. the active form in the fetus is reverse T3
A
  1. increases at birth due to a surge of TSH
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48
Q

What is the risk of congenital heart block with anti Ro + La antibodies?

  1. 5%
  2. 10%
  3. 20%
A
  1. 5%
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49
Q

Regarding the triple test, which is true?

  1. 1% of women undergoing the test will be placed at increased risk category
  2. Most accurate at 15-16/40
  3. Indicated for women at increased risk of Down’s syndrome
  4. Will pick up 90% of affected infants
A
  1. Most accurate at 15-16/40
50
Q

40 yo woman presents in her first pregnancy. Which is true?

  1. 3% chance of having a Down’s syndrome infant
  2. 4% chance of chromosome abnormality on amnio
  3. 2% chance of miscarriage after amnio
  4. 10% chance of miscarriage after CVS
  5. 1% chance of NTD
A

?? 1% chance of miscarriage after amnio

1% after CVS

downs risk is 1:100 based on age

risk of any chromosomal anomaly is 1:66 based on age

risk of NTD is 4.6/10,000

51
Q

Klinefelters – advice to pregnant woman about likely phenotype. Which is not a feature?

  1. gynaecomastia
  2. female fat distribution
  3. serious mental retardation
  4. infertility
  5. tall eunuchoid habitus
A
  1. serious mental retardation
52
Q

Which drug has been shown to be harmful to the fetus during pregnancy?

  1. metronidazole
  2. heparin
  3. azathioprine
  4. thiazide diuretics
A

thiazide diuretics

53
Q

*Re warfarin. Which is true?

  1. it is only safe in second trimester
  2. it can be interfered with by therapeutic dose of paracetamol
  3. it is monitored with use of APTT
  4. can be used in breast feeding
A
  1. can be used in breast feeding
54
Q

Mix and match (2 only)

a) VSD- isolated 1. most likely to be assoc with abN karyotype
b) posterior urethral valves 2. assoc with oligohydramnios
c) PUJO – unilateral
d) duodenal atresia

A

b) and 2.
d) and 1.

55
Q

*Antenatal administration of indomethacin has all the following effects?

  1. premature closure of ductus arteriosus
  2. fetal kidney problems
  3. reduced liquor problems
  4. all of the above
  5. none of the above
A
  1. all of the above
56
Q

Which of the following cannot be detected on routine US scanning?

  1. hydrocephalus
  2. exomphalos
  3. cystic fibrosis
  4. cleft palate
A
  1. CF
57
Q

Risk of Down’s syndrome at age 40

  1. 1 in 50
  2. 1 in 100
  3. 1 in 250
  4. 1 in 20
  5. 1 in 5
A
  1. 1 in 100
58
Q

Which is wrong?

47XXY – Klinefelters

46 XO – Turners

A

46 XO – Turners

59
Q

Which most likely causes oligohydramnios?

  1. indomethacin
  2. verapamil
  3. B blocker
A

indomethacin

60
Q

Advice re alcohol in pregnancy?

  1. only safe thing is not to have any
  2. better to have none but no increase in FAS with one standard drink per day
  3. 3 standard drinks per day safe as long as there is no binge drinking
  4. a constant low intake best so the fetus is exposed to constant low levels
A
  1. only safe thing is not to have any
61
Q

A previously healthy 4 day old infant becomes hypotensive and dehydrated, low Na and high K. Which definitive Ix likely to be positive next?

A

raised 17-OH progesterone (>200)

62
Q

On 18 weeks US see bilateral choroid plexus cysts but otherwise fetus normal. Do you?

  1. disregard as inconsequential
  2. do immediate amnio
  3. repeat scan in 4 weeks
  4. recommend TOP
A
  1. disregard as inconsequential

normal variant in 1-2% of pregnancies

Also found in 1/3 of T18 fetus, but they have other associated anomalities

63
Q

Predominant Hb type in neonat?

  1. HbA
  2. HbA2
  3. HbF
  4. HbH
A
  1. HbF
64
Q

US (picture given) at 17/40 shows ‘frog’s eyes’ and maternal serum AFP 4 times above normal range. Following options in counselling parents?

  1. Defect unclear as not often seen at 17/40
  2. Neonatal survival is poor (<48hrs)
  3. Prompt termination required to avoid serious maternal complications
  4. Fetus will survive, but with significant morbidity
A
  1. Neonatal survival is poor (<48hrs)
65
Q

The best screen for neonatal hypothyroidism is?

  1. T4 with subsequent TSH in low T4 cases
  2. TSH with subsequent T4 if TSH high
  3. Simultaneous TSH and T4
A
  1. Simultaneous TSH and T4
66
Q

Signs suggestive of neonatal hypothroidism?

  1. hyptonia
  2. dry skin
  3. open posterior fontanelle
  4. typical facies
  5. all of the above
A
  1. all of the above
67
Q

Suspected fetal hypothyroidism is best managed by?

  1. high dose of thyroid hormone to pregnant mother
  2. intramniotic injection of thyroid hormone
  3. nothing until delivery then thyroid hormone to neonate
A
  1. intramniotic injection of thyroid hormone
68
Q

A couple presented for genetic counselling because her first child has trisomy 21. On karyotype testing, she was found to have a balance translocation of 14/21. What is her risk of recurrence?

  1. 100%
  2. 50%
  3. 25%
  4. 10%
  5. 0%
A
  1. 10%
69
Q

Myelomeningocoele is associated with which of the following conditions?

  1. Arnold-chiari malformation
  2. Trisomy 21
  3. Turners syndrome
  4. Trisomy 18
  5. Trisomy 13
A
  1. Arnold-chiari malformation
70
Q

Microcephaly, flat nose, thin upper lip, large distance between nose and lip. Which drug is culprit?

  1. ETOH
  2. Marajuiana
  3. Cocaine
  4. Amphetamines
  5. Heroin
A
  1. ETOH
71
Q

What is phenytoin not associated with?

  1. mental retardation
  2. cleft palate
  3. spina bifida
  4. CVS defects
A
  1. spina bifida
72
Q

What is worst advice re ETOH in pregnancy?

  1. nil is safest
  2. 1 drink per week is probably OK
  3. 1 drink per day is probably OK
  4. 2 drinks per day, 5x per week is probably OK
  5. isolated occasion < or = 1x per month of < or = to 10 drinks is OK after first trimester
A

4 or 5

73
Q

Which one does NOT elevate AFP in amniotic fluid?

  1. dead fetus
  2. myelomenigocele
  3. spina bifida occulta
  4. multiple pregnancy
  5. fetal blood mixed in sample
A

spina bifida occulta

74
Q

Which is not associated with aneuoploidy?

  1. omphalocele
  2. gastroschisis
  3. CVS defect
A
  1. gastroschisis
75
Q

16 weeks, AFP 4 times MoM, next step in management

  1. repeat the AFP
  2. amniography
  3. ultrasonography
  4. amniocentesis
  5. intra-amniotic installation of PGF 2 alpha
A

ultrasonography

76
Q

High AFP likely due to the following except:

  1. spina bifida occulta
  2. omphalocoele
  3. anencephaly
  4. FDIU
  5. Myelomeningocoele
A
  1. spina bifida occulta
77
Q

Drugs which cause haemolytic anaemia

  1. penicillin
  2. methyldopa
  3. cefoxitin
  4. all of the above
  5. none of the above
A

all of the above

78
Q

What has the least effect on the fetus when given to the mother?

  1. TSH
  2. TRH
  3. Thyroxine
A

tsh

79
Q

Lady at 23/40 by dates and confirmed by early US, fundus>dates. Measurements on US c/w 23 weeks but polyhydramnios. Most likely diagnosis?

  1. omphalocoele
  2. meconium ileus
  3. polycystic kidneys
  4. duodenal atresia
A

?4

80
Q

PG with CHD, fetus is at risk of

  1. cardiac abnormality
  2. venous abnormality
  3. arterial abnormality such as coarctation
  4. cardiac, venous or arterial anomalies
  5. all abnormalities incl arterial, venous or cardiac
A
  1. cardiac abnormality
81
Q

Omphalocele risk of chromosomal abnormality

  1. <20%
  2. 30%
  3. 60%
  4. 80%
  5. >80%
A

30%

82
Q

What is the recurrence rate of anencephaly after one affected child?

  1. 3%
  2. 5%
  3. 10%
  4. 20%
  5. 25%
A
  1. 5%
83
Q

A 3cm unilateral choroid plexus cyst was found on routine antenatal US at 24 weeks. Which of the following is correct?

  1. reassure mother and no follow up required
  2. perform serial US and reassure mother is cyst remains the same
  3. cephalocentesis is indicated
  4. choroid plexus cyst is most commonly found in 3rdventricle
  5. perform an amniocentesis to obtain fetal karyotype
A
  1. perform an amniocentesis to obtain fetal karyotype

most would say if bilateral > 1cm – do karyotype

unilateral cyst increases aneuploidy by 50% of maternal adjusted risk

I recommend restricting amniocentesis to patients with additional sonographic abnormalities or high risk factors (ie, advanced maternal age (older than 32 years at delivery [85], abnormal serum analyte screen) [86]. Some women may request amniocentesis after risk-benefit counselling.

84
Q

Which of the following conditions is most likely associated with chromosomal abnormalities?

  1. PUJ obstruction
  2. VSD
  3. Gastroschisis
  4. Duodenal atresia
  5. Pulmonary stenosis
A

2 -VSD- or 4- duodenal atresia

If anomalies are taken as isolated – if associated abn, then prob b

Fetal chromosome abnormalities are also common when cardiac disease is present [26,27]. In one series of 1510 fetuses with prenatally diagnosed structural cardiac defects, 624 (41 percent) had an abnormal karyotype (aneuploidy in 562, structural abnormalities in 62) [28

In vsd 46% have chm ab

Trisomy 21 and duod atr = 30%

85
Q

A primigravid woman completed in a running marathon. On the day, the weather was very hot and she suffered from heat stroke. She was admitted to the hospital, diagnosed with hyperthermia. She was treated successfully with rehydration. Her last normal menstrual period was 4 weeks ago and her pregnancy test was positive. She came to you to obtain advice about the effect of this episode on her fetus. Which of the following is the fetus at risk of?

  1. VSD
  2. Gastroschisis
  3. Phecomelia
  4. Spina bifida
  5. Anencephaly
A
  1. Spina bifida

a

Hyperthermia is thought to be a teratogen in many animal species and also in humans. It has been reported that hyperthermia caused by sauna, hot tub, or fever during the early stages of pregnancy is related to an increased risk for neural tube defects. During exercise, especially in hot conditions, body temperature can also rise to fairly high levels. Thus, we can surmise that hyperthermia induced by exercise can also cause fetal malformation. To investigate this hypothesis, pregnant rats at 9 days of gestation were divided into four groups. In the first group, the animals were made to swim for 30 minutes in water at a temperature of 40.5 degrees C. In the second group, they were restrained and immersed in water for the same time at the same temperature. In the third group, the rats were forced to swim in water at 36.0 degrees C. The fourth group were controls. The core temperature of the rats was measured during these procedures. On the 18th gestational day, fetuses were extracted by cesarean section. The elevation of maternal core temperature was significantly greater in the first group than in the other groups. In the first group, 69% of fetuses had various external anomalies. No anomalies were found in the other groups. Our results show that exercise in hot conditions caused the elevation of core temperature and resulted in fetal anomalies in rats.

86
Q

A low AFP is associated with:

  1. trisomy 21
  2. Turner’s syndrome
  3. Trisomy 18
  4. Arnold Chiari malformation
  5. Noonan syndrome
A
  1. trisomy 21
87
Q

Exomphalos is associated with:

  1. trisomy 21
  2. Turner’s syndrome
  3. Trisomy 18
  4. Arnold Chiari malformation
  5. Noonan syndrome
A
  1. Trisomy 18
88
Q

Meningomyelocoele is associated with:

  1. trisomy 21
  2. Turner’s syndrome
  3. Trisomy 18
  4. Arnold Chiari malformation
  5. Noonan syndrome
A
  1. Arnold Chiari malformation
89
Q

A low AFP is associated with:

  1. trisomy 21
  2. Turner’s syndrome
  3. Trisomy 18
  4. Arnold Chiari malformation
  5. Noonan syndrome
A

1 and 3

triple testing:

T21: AFP low, UE3 low, hcg high,

T18: AFP low, UE3 low, hcg low

NTD: AFP high, UE3/ hcg NA

90
Q

A US is performed at 28/40 and a hydrocephalic fetus (ventriculomegaly is diagnosed. The cortical thickness is 1 cm. Which of the following is correct?

  1. ventriculoamniotic shunt
  2. Cervagem termination of pregnancy now
  3. Wait till 36/40 then LUSCS
  4. Commence on folic acid before conceiving next time
  5. Second weekly cephlocentesis to prevent further cerebral damage
A
  1. Wait till 36/40 then LUSCS
91
Q

A US is performed at 28/40 and a hydrocephalic fetus (ventriculomegaly is diagnosed. The cortical thickness is 1 cm. Which of the following is correct?

  1. ventriculoamniotic shunt
  2. Cervagem termination of pregnancy now
  3. Wait till 36/40 then LUSCS
  4. Commence on folic acid before conceiving next time
  5. Second weekly cephlocentesis to prevent further cerebral damage
A

Answer 3) wait till 36/40 then LUSCS

92
Q

A CVS for advanced maternal age reveals mosaicism. Do you counsel for:

  1. TOP
  2. Explain what the likely phenotype is, and allow patients to request TOP
  3. Repeat the CVS
  4. Offer amniocentesis
  5. Ignore it as it is likely to be confined to the placenta
A
  1. Offer amniocentesis

Maternal contamination rate of 1-2%

Mosaicism 1-2% - requires follow up with amniocentesis – 2/3 of these cases have normal karyotype on follow up amnio

93
Q

A woman’s previous son has Duchene muscular dystrophy. What is the chance that her current fetus is affected?

  1. 0%
  2. 10%
  3. 25%
  4. 33%
  5. 50%
A
  1. 25%
    - x- linked
    - shes a carrier

50% risk of male fetus getting DMD and 50% chance of havign male -> overall 25% risk (0.5x0.5=0.25)

94
Q

Polyhydramnios will not be seen with:

  1. congenital myasthenia gravis
  2. myotonic dystrophy
  3. Duchenne muscular dystrophy
  4. Hydrocephalus
  5. Arthrogryphosis
A
  1. Duchenne muscular dystrophy
95
Q

A patient has a termination of pregnancy at 18 weeks for an open neural tube defect. What is the risk of recurrent NTD in her next pregnancy?

  1. 1%
  2. 2%
  3. 5%
  4. 10%
  5. 50%
A
  1. 5%

5% after 1, 10% after 2

96
Q

An ultrasound examination reveals that your patient has a fetus with gastroschisis. You advise her that:

  1. The fetus has >30% chance of an associated chromosomal abnormality
  2. Surgical repair is successful in <20% of cases
  3. It is uncertain whether LUSCS confers any advantages over NVD
  4. The infant is likely to have severe mental retardation
A
  1. It is uncertain whether LUSCS confers any advantages over NVD

Ganstroschisis:

Paraumbilical defect usually on right lateral to umbilical vessels

Liver rarely involved

Defect no covered with peritoneum so intestines float in the amniotic cavity

not associated with abnormal karyotype

1:2500-3000

raised AFP

developmental accident where abnormal regression of the umbilical vein weakens the abdominal wall

incidence of associated abnormalities <10% – cardiac most common

high chance of good outcome with >80% survival

primary closure in 85%

close monitoring in T3 as high incidence of unexplained FDIU

no evidence that early delivery improves outcome

no objective evidence that caesarean section results in improved outcome

postnatal – handle bowel carefully, place in a sterile plastic bag with/without warm isotonic solution, prevention of heat and fluid loss and early surgery are priorities, mortality rate 10% - assoc with prematurity, intestinal ischaemia or necrosis

97
Q

Screening ultrasound during the second trimester is least likely to detect abnormalities in which of the following systems?

  1. cardiovascular
  2. respiratory
  3. gastrointestinal
  4. genitourinary
  5. skeletal
A
  1. cardiovascular

The Eurofetus study of 1999 is the largest study of routine ultrasonographic examination in unselected population [18]. Women were routinely scanned by trained sonologists at 18 to 22 weeks in 61 centers across Europe.

Results of routine second trimester ultrasound screening were:

· The sensitivity for detection of all anomalies was 56.2 percent

· The detection rate was higher for major (73.7 percent) than for minor (45.7 percent) anomalies, and higher for anomalies of the central nervous system (88.3 percent) and the urinary tract (88.5 percent) than for cardiac abnormalities (38.8 percent of major cardiac and 20.8 percent of minor cardiac anomalies were detected).

· Overall, 44 percent of anomalies were detected before 24 weeks. Cardiac defects and cleft lip/palate were diagnosed later in pregnancy than abnormalities of the CNS, urinary tract, or musculoskeletal systems.

98
Q

Which of the following is least likely to be associated with aneuploidy?

  1. duodenal atresia
  2. omphalocoele
  3. gastroschisis
  4. mental retardation
  5. congenital heart disease
A
  1. gastroschisis
99
Q

A man has an X-linked disorder and his wife is homozygous normal. What is the chance that their two children will both be affected.

  1. 0
  2. 1/2
  3. 1/4
  4. 1/16
  5. 1/32
A

1) 0 ( if recessive)

100
Q

Fetal cystic hygroma is most associated with:

  1. trisomy 21
  2. trisomy 18
  3. 45 XO
  4. mosaicism
  5. 47 XXX
A
  1. 45 XO
101
Q

A raised AFP is associated with :

  1. retroplacental haemorrhage
  2. closed NTD
  3. neonatal CF
  4. duodenal atresia
A
  1. retroplacental haemorrhage

Elevations of maternal serum alpha fetal protein (AFP) that are not explained by fetal abnormalities carry up to a 10-fold risk of subsequent abruption

102
Q

An adopted woman has recently been informed that her natural mother died from Huntington’s chorea. What is the risk that her unborn child is affected?

  1. 50%
  2. 25%
  3. none
  4. none if the baby is male
  5. none if the baby is female
A
  1. 50%

autosomal dominant

103
Q

Woman 16 weeks pregnant, requesting tests for genetic diagnosis, correct option:

  1. perform amnio as too late for CVS
  2. 1/600 risk miscarriage with amnio
  3. results with CVS more reliable than amnio
A
  1. perform amnio as too late for CVS
104
Q

All of the following occur in congenital rubella except:

  1. Cataracts
  2. Deafness
  3. IUGR
  4. Cardiac defects
  5. Renal dysplasia
A

5) Renal dysplasia

105
Q

Regarding toxoplasmosis, all are true except:

  1. it is a bacteria
  2. can cause abortions
  3. causes cerebral calcifications
  4. causes chorioretinitis
  5. causes hydrocephalus
A
  1. it is a bacteria
106
Q

CMV, fetal infection rate if the mother seroconverts in pregnancy, correct option:

  1. 100%
  2. 80%
  3. 50%
  4. 20%
  5. <5%
A

? 4. 20%

If primary CMV in first trimester 30% chance of fetal infection.

30% chance of fetus being affected if there is an infection, ie 10% chance of fetal damage.

prevalence of infected newborns 0.6%

107
Q

Toxoplasmosis, incorrect option:

  1. Keep away from cats
  2. Important cause of cerebral calcification
  3. 25-50% are immune to toxo in Australia
  4. Usually asymptomatic
  5. Spiramycin is the treatment of choice
A
  1. 25-50% are immune to toxo in Australia

70 – 90% of women are susceptible (?)

108
Q

Which does not cause intrauterine infection?

  1. CMV
  2. Polio
  3. Mumps
  4. Toxoplasmosis
  5. Malaria
A
  1. Mumps
109
Q

Rubella infection

  1. 1% risk of fetal syndrome in 2ndtrimester
  2. is a killed virus
  3. viraemia precedes rash
  4. attenuated by blood transfusion
A
  1. viraemia precedes rash

(30-54% risk of fetal infection in second trimester)

110
Q

Toxoplasmosis in pregnancy – all except

  1. IgM = acute infection
  2. Spread by cats
  3. Incidence in Australia in pregnancy 10/1000
  4. Treat with spiramycin
  5. Chrorioretinitis is most common manifestation of latent infection
A
    • incidence is 2:1000
111
Q

Parvovirus B19 is associated with?

  1. rapid progression of cervical dysplasia to invasion
  2. fetal anaemia and hydrops
  3. maternal pneumonia
  4. benign condylomata
  5. hepatitis C
A
  1. fetal anaemia and hydrops
112
Q

Rubella?

  1. has 100% teratogenic effect if infected <10 weeks
  2. first discovered in Australia
  3. can cause PDA
A

3./ can cause PDA

Features of CRS:

At birth or early manifestations

• Deafness (sensory neural hearing loss, 60–75%), central nervous system dysfunction (10–25%, mental retardation, developmental delay, microcephaly), cardiovascular defects (10–20%, patent ductus, pulmonary artery stenosis, pulmonary stenosis), ophthalmological abnormalities (10–25%, cataracts, micropthalmos, retinopathy, glaucoma, strabismus, cloudy cornea), Others: growth retardation, haematological abnormalities, GI tract abnormalities, pneumonitis & osteitis.

Late manifestations

• Deafness (sensory neural hearing loss), neurological deficiencies, epilepsy, cataracts, retinopathy, tooth defects, growth retardation, insulin dependent diabetes mellitus (up to 50 times the rate in the general population), thyroid dysfunction and panencephalitis.

113
Q

Which is the most common virus spread via the placenta?

  1. syphilis
  2. CMV
  3. Toxo
A
  1. CMV

syphilis bacteria, toxo parasite

114
Q

5 days after a busy obstetric clinic one of the patients develops rubella. Should all of the rest of the patients who attended the clinic?

  1. have rubella vaccine
  2. be tested for IgM rubella antibodies
  3. be tested for IgG rubella antibodies
  4. be given immune globulin
  5. none of the above
A

be tested for IgG rubella antibodies

115
Q

All true of HIV except?

  1. more risk from intercourse with an infected female than with an infected male
  2. may develop symptoms in pregnancy in HIV pos women
  3. shown that virus carried in breast milk
  4. first presentation may be with pneumocystic carinii
A
  1. more risk from intercourse with an infected female than with an infected male
116
Q

Rubella vaccine?

  1. seroconversion in 85% of individuals
  2. causes a viral infection which is communicable
  3. can be transmitted in breast milk
  4. a killed vaccine
  5. effectiveness reduced by blood transfusion
A
  1. effectiveness reduced by blood transfusion

According to immunization website: whole blood transfusion does inhibit the response in up to 50 percent of vaccines

There is no risk to the mother or child in giving MMR to breastfeeding women.5

a live vaccine

it does enter breast milk – use with caution

Vaccine results in long-lasting immunity in over 95%

117
Q

Referred 34/40 with GBS on swab?

  1. Give course of ampicillin now
  2. Give course at 38 weeks
  3. IV ampicillin in labour
  4. Treat neonate with penicillin
  5. None of the above
A
  1. IV ampicillin in labour
118
Q

The common cause of non-bacterial fetal infection is?

  1. toxoplasmosis gondii
  2. rubella
  3. CMV
  4. Syphilis
  5. HSV
A
  1. CMV

CMV: leading cause of congenital infection, 40% Australian women seronegative, 1-2% of susceptible women seroconvert, prevalence of infected newborns 0.6%

119
Q

CMV ?

  1. commonest intrauterine viral infection
  2. most infected infants are symptomatic
  3. contracted from eating undercooked meat
A
  1. commonest intrauterine viral infection
120
Q

GBS – most common location?

  1. low vagina
  2. urethra
  3. GIT
A
  1. GIT
121
Q

What is the transmission rate to the fetus if the mother is HTLV3 (HIV) positive

  1. 0 %
  2. 10%
  3. 30%
  4. 50%
  5. 100%
A
  1. 30%
122
Q
A

MCQ (10 decks)

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