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Obs & Gynae > Congenital abnormalities and infections in pregnancy > Flashcards

Congenital abnormalities and infections in pregnancy Flashcards

1
Q

Congenital abnormalities come under which 5 categories?

A
  1. Structural deformities
  2. Chromosomal abnormalities
  3. Inherited diseases
  4. Intrauterine infection
  5. Drug exposure
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2
Q

Give an example of a structural deformity causing congenital abnormality

A

Diaphragmatic hernia

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3
Q

Give an example of a chromosomal abnormality causing congenital abnormality

A

Down’s syndrome

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4
Q

Give an example of an inherited disease causing congenital abnormality

A

CF

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5
Q

Give an example of an intrauterine infection causing congenital abnormality

A

Rubella

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6
Q

Give an example of a drug exposure causing congenital abnormality

A

Antiepileptics (sodium valproate)

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7
Q

What is the difference between screening and diagnostic tests?

A

Screening test:

  • available for all women
  • measures risk of fetus being affected by a disorder
  • high risk patient then offered a diagnostic test

Diagnostic test:
- only for high risk women to confirm or refute possibility (aka Down’s syndrome y/n)

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8
Q

What are methods of prenatal testing for congenital anormalities?

A

Non-invasive:
Maternal blood testing
USS
Fetal MRI

Invasive:

  • Amniocentesis
  • CVS
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9
Q

Which maternal blood markers can be used to test for chromosomal abnormalities?

A 
B-HCG
PAPP-A
AFP
Oestriol
Inhibin A

Free fetal DNA (NIPT)

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10
Q

What can NIPT show?

A

Whether mother is carrying a fetus with aneuploidy

Done by scanning for free fetal DNA in mother’s bloodstream

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11
Q

_____ scan is used to determine the gestation, pregnancy site and exclude multiple pregnancy

A

USS

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12
Q

What specific aspect does USS look for to exclude congenital abnormalities?

What indicates a higher risk?

A

Nuchal translucency

Larger NT = higher risk of congenital abnormalities

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13
Q

When is the NT scan done with USS?

A

Between 11 and 13+6 weeks

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14
Q

What does the anomaly scan involve?

When is it carried out?

A

Look for structural abnormalities

Carried out at 20 weeks (picks up stuff not caught by NT scan)

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15
Q

When is fetal MRI used?

A

Aid diagnosis of intracranial lesions

Differentiate different types of soft tissue (liver/lung)

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16
Q

When is amniocentesis performed usually?

A

15 weeks + gestation

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17
Q

What can amniocentesis detect?

A

Chromosomal abnormalities

Infections (CMV, toxoplasmosis)

Inherited disorders (Sickle cell anaemia, thalassemia, CF)

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18
Q

How is CVS similar and different to amniocentesis?

A

Same uses as amniocentesis.

Allows results much earlier (11 weeks)

Miscarriage rate slightly higher

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19
Q

How can samples screening for congenital abnormalities be tested

A

FISH
PCR
Karyotyping
Micro-array-CGH (Comparative genomic hybridisation)

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20
Q

What fertilisation method does preimplantation genetic diagnosis require?

A

IVF (even in fertile couples)

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21
Q

What are the 2 best known examples of Neural tube defects?

A

Spina bifida

Anencephaly

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22
Q

What supplement can be given to prevent NTDs?

When is this typically recommended to be taken?

A

Folic acid

Preconceptually

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23
Q

Which chromosomal abnormalities are usually screened for?

A

Down’s syndrome (T-21)
Edward’s syndrome (T-18)
Patau’s syndrome (T-13)

Klinefelter’s 47 XXY
Turner’s syndrome 45 X0

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24
Q

What are 2 risk factors for down’s syndrome?

A

High maternal age

Previous affected baby

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25
Q

What would be seen on USS with Down’s syndrome?

A 
Thickened nuchal transluceny
Structural abnormalities
Absent/short nasal bone
Tricuspid regurg
Severe FGR
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26
Q

What would be expected for the following bloods in a Down’s syndrome pregnancy? (higher/lower)

  1. PAPPA
  2. B-HCG
  3. AFP
  4. Oestriol
  5. Inhibin
A
  1. PAPPA - lower
  2. B-HCG - higher
  3. AFP - lower
  4. Oestriol - lower
  5. Inhibin - higher
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27
Q

What characteristic appearance is seen with anencephaly on USS?

A

“Frog-eye” appearance

+ Absent cranium

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28
Q

When are NT defects usually picked up on scans?

A

USS @ 20 weeks (anomaly scan)

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29
Q

Can increased nuchal translucency indicate cardiac defects?

A

Yes

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30
Q

What in-utero therapy can be given to fetuses with cardiac defects?
(Medical/Surgical)

A

Medical - antiarrythmics

Surgery - Valvoplasty for critical aortic stenosis

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31
Q

What drug class is used to treat polyhydramnios?

A

NSAIDs

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32
Q

What kind of surgery is used to repair NTDs in utero?

A

Open surgery

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33
Q

______ is characterised by a partial extrusion of the abdominal contents in a peritoneal sac.

50% of affected infants have a chromosomal problem and thus amniocentesisi is offered.

A

Exomphalos

34
Q

_______ is characterised by by free loops of bowel in the amniotic cavity and is rarely associated with other abnormalities.

A

Gastroschisis

35
Q

What is the link between MMR vaccine and pregnant women?

A

MMR is live vaccine - should not be given to pregnant women.

Give to non-immune women AFTER giving birth.

36
Q

What are the 4 classic features of congenital rubella syndrome?

A

Congenital deafness
Congenital cataracts
Congenital heart disease (PDA + pulmonary stenosis)
Learning disability

37
Q

Chickenpox is caused by which virus?

A

VZV

38
Q

What can chickenpox in pregnancy lead to?

A

Severe cases of pneumonitis/hepatitis/encephalitis

Fetal/neonatal varicella infection

39
Q

What blood test is used to test for immunity against VZV?

A

IgG levels for VZV

Positive = VZV immunity

40
Q

What can be given to pregnant women who are non-immune to VZV as protection?

A

IV varicella immunoglobulins

41
Q

What are the 5 features of congenital varicella syndrome?

A

FGR

Microcephaly, hydrocephalus, learning disability

Scars and significant skin changes in dermatomes

Limb hypoplasia

Cataracts + inflammation in eye (chorioretinitis)

42
Q

Which infectious gram-positive bacteria is many more times likely in pregnant women than non-pregnant people?

A

Listeria monocytogenes

43
Q

How can pregnant women with listeria present?

A

Asymptomatic

Flu-like illness

Or rarely, pneumonia, meninoencephalitis

44
Q

Why is listerosis in pregnant women considered dangerous?

A

High rate of miscarriage or fetal death

Severe neonatal infection

45
Q

How is listeria typically transmitted?

A

Unpasteurised dairy products, processed meats, contaminated foods

46
Q

What advice can be given to pregnant women to protect against listeria?

A

Avoid blue cheese (high risk foods) and practice good food hygiene

47
Q

How can rubella virus present in children?

A

Mild febrile illness with macular rash

48
Q

What micro-organism causes syphillis?

A

Treponema pallidum

49
Q

How can fetal damage from syphillis be prevented?

A

Benzylpenicillin

50
Q

How is toxoplasmosis transmitted?

A

Contamination with faeces from a cat that is the host of a parasite.

Or eating infected meat

51
Q

What is the classic triad of features in congenital toxoplasmosis?

A

HIC

Hydrocephalus
Intracranial calcification
Chorioretinitis (inflammation of the choroid and retina in the eye)

52
Q

What drug is used against toxoplasmosis?

How can toxoplasmosis be managed conservatively?

A

Spiramycin

Give advice to mother to wash hands after contact with cat litter

53
Q

What is the distinguishing feature seen on microscopy of CMV?

A

Owl’s eye inclusion bodies

54
Q

How is CMV usually spread?

A

Infected saliva or urine of asymptomatic children.

55
Q

What are the features of congenital CMV?

A 
FGR
Microcephaly
Hearing/vision loss
Learning disability
Seizures

*Most cases of CMV in pregnancy do not cause congenital CMV

56
Q

How is CMV managed in pregnant women?

A

No prenatal treatment

Close monitoring for USS abnormalities

Offer termination :(

Vaccination NOT available :(

57
Q

Which herpes type causes genital warts more commonly?

A

HSV-2

58
Q

A mother recently acquired HSV-2 and is due to give birth soon. How should she be managed?

A

C-section if genital lesions from primary attack present. Ideally within 6 weeks.

Daily aciclovir in late pregnancy to reduce recurrence at term.

Exposed neonates should be given aciclovir too.

59
Q

Pre-eclampsia and GDM are higher in women with what viral infection?

A

HIV

60
Q

HIV can lead to what effects on the fetus?

A

Stillbirth
Growth restriction
Prematurity

61
Q

At which stages is HIV transmission greater?

A

Early and late stage disease.

When CD4 count low and viral load count high.

62
Q

How is HIV checked for in pregnant women in the UK?

A

Screening done regularly on HIV+ve women.

Regular CD4 and viral load tests

63
Q

Which opportunistic infection of HIV+ve women is prophylaxis given against in pregnant women?

A

Pneumocystic carinii Pneumonia

64
Q

What is the ideal treatment for HIV?

A

HAART

Highly active antiretroviral therapy - on mother throughout pregnancy and delivery and on neonate in the first 6 weeks.

Nevirapine *in 3rd world countries

Avoid breastfeeding

65
Q

What are barriers to HIV protection in 3rd world countries?

A

Lack of knowledge of HIV status (poor testing/education)

Poor access to healthcare

66
Q

Slapped check syndrome is caused by which virus?

A

Parvovirus B19

67
Q

How long does slapped cheek syndrome last for?

A

Rash and symptoms last for 1-2 weeks. Self-limiting illness.

68
Q

Where does slapped cheek syndrome present on the body?

A

Bright red diffuse rash on both cheeks.

Reticular mildly erythematous rash on trunk + limbs - raised, itchy

69
Q

Why does fetal anaemia occur with parvovirus B19?

A

Suppression of erythropoesis in the fetal bone marrow/liver.

Anaemia -> heart failure/hydrops fetalis

70
Q

What is a complication in the 1st/2nd trimesters from parvovirus B19?

A

Severe fetal anaemia

71
Q

What are women suspected of parvovirus infection tested for?

A

IgM to parvovirus (acute infection?)

IgG to parvovirus (long term immunity after previous infection?)

Rubella antibodies (as differential diagnosis)

72
Q

How are women with parvovirus managed?

A

Supportive treatment only.

Scan mothers regularly for anaemia.

If severe hydrops found, in utero transfusion given.

73
Q

How is Hep B transmitted?

A

Blood products or sexual activity

74
Q

How is Hep B checked for in pregnant mothers in the UK?

A

Maternal screening is routine in the UK for Hep B.

*Hep-C screening restricted to high-risk groups - e.g. HIV positive.

75
Q

What are risk factors for Hep C infection?

A

Drug abuse and sexual transmission

76
Q

Which Hepatitis type leads to chronic hepatitis in 80%?

A

Hep C

77
Q

How are Hep C women managed?

A

None existing

Screen high-risk groups - e,g. HIV+ve women

78
Q

How are Hep B women managed?

A

Antivirals for high viral load women

Handle sensitively to avoid transmission to staff

Neonatal immunisation

79
Q

Which streptococcus must be checked for in mothers and neonates?

A

Group B Strep (Strep agalactiae)

80
Q

When does Group B Strep usually infect fetuses?

A

During labour after ROM

More likely in:
preterm labour
prolonged labour
maternal fever

81
Q

How can fetal mortality due to Group B Strep be prevented?

A

High dose IV penicillin throughout labour

82
Q

Why is screening for Group B Strep not recommended in the UK?

A

Due to fears of anaphylaxis and also the low incidence of GBS in UK.

Obs & Gynae (13 decks)

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