Congenital abnormalities and infections in pregnancy Flashcards by V S

Congenital abnormalities come under which 5 categories?

Structural deformities
Chromosomal abnormalities
Inherited diseases
Intrauterine infection
Drug exposure

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Give an example of a structural deformity causing congenital abnormality

Diaphragmatic hernia

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Give an example of a chromosomal abnormality causing congenital abnormality

Down’s syndrome

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Give an example of an inherited disease causing congenital abnormality

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Give an example of an intrauterine infection causing congenital abnormality

Rubella

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Give an example of a drug exposure causing congenital abnormality

Antiepileptics (sodium valproate)

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What is the difference between screening and diagnostic tests?

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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What are methods of prenatal testing for congenital anormalities?

Non-invasive:
Maternal blood testing
USS
Fetal MRI

Invasive:

Amniocentesis
CVS

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

B-HCG
PAPP-A
AFP
Oestriol
Inhibin A

Free fetal DNA (NIPT)

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What can NIPT show?

Whether mother is carrying a fetus with aneuploidy

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

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

USS

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

What indicates a higher risk?

Nuchal translucency

Larger NT = higher risk of congenital abnormalities

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When is the NT scan done with USS?

Between 11 and 13+6 weeks

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What does the anomaly scan involve?

When is it carried out?

Look for structural abnormalities

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

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When is fetal MRI used?

Aid diagnosis of intracranial lesions

Differentiate different types of soft tissue (liver/lung)

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When is amniocentesis performed usually?

15 weeks + gestation

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What can amniocentesis detect?

Chromosomal abnormalities

Infections (CMV, toxoplasmosis)

Inherited disorders (Sickle cell anaemia, thalassemia, CF)

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How is CVS similar and different to amniocentesis?

Same uses as amniocentesis.

Allows results much earlier (11 weeks)

Miscarriage rate slightly higher

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How can samples screening for congenital abnormalities be tested

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

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What fertilisation method does preimplantation genetic diagnosis require?

IVF (even in fertile couples)

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

Spina bifida

Anencephaly

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What supplement can be given to prevent NTDs?

When is this typically recommended to be taken?

Folic acid

Preconceptually

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Which chromosomal abnormalities are usually screened for?

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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What are 2 risk factors for down’s syndrome?

High maternal age

Previous affected baby

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

``` Thickened nuchal transluceny Structural abnormalities Absent/short nasal bone Tricuspid regurg Severe FGR ```

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

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

What characteristic appearance is seen with anencephaly on USS?

"Frog-eye" appearance + Absent cranium

When are NT defects usually picked up on scans?

USS @ 20 weeks (anomaly scan)

Can increased nuchal translucency indicate cardiac defects?

Yes

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

Medical - antiarrythmics Surgery - Valvoplasty for critical aortic stenosis

What drug class is used to treat polyhydramnios?

NSAIDs

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

Open surgery

______ 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.

Exomphalos

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

Gastroschisis

What is the link between MMR vaccine and pregnant women?

MMR is live vaccine - should not be given to pregnant women. Give to non-immune women AFTER giving birth.

What are the 4 classic features of congenital rubella syndrome?

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

Chickenpox is caused by which virus?

VZV

What can chickenpox in pregnancy lead to?

Severe cases of pneumonitis/hepatitis/encephalitis Fetal/neonatal varicella infection

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

IgG levels for VZV Positive = VZV immunity

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

IV varicella immunoglobulins

What are the 5 features of congenital varicella syndrome?

FGR Microcephaly, hydrocephalus, learning disability Scars and significant skin changes in dermatomes Limb hypoplasia Cataracts + inflammation in eye (chorioretinitis)

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

Listeria monocytogenes

How can pregnant women with listeria present?

Asymptomatic Flu-like illness Or rarely, pneumonia, meninoencephalitis

Why is listerosis in pregnant women considered dangerous?

High rate of miscarriage or fetal death Severe neonatal infection

How is listeria typically transmitted?

Unpasteurised dairy products, processed meats, contaminated foods

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

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

How can rubella virus present in children?

Mild febrile illness with macular rash

What micro-organism causes syphillis?

Treponema pallidum

How can fetal damage from syphillis be prevented?

Benzylpenicillin

How is toxoplasmosis transmitted?

Contamination with faeces from a cat that is the host of a parasite. Or eating infected meat

What is the classic triad of features in congenital toxoplasmosis?

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

What drug is used against toxoplasmosis? How can toxoplasmosis be managed conservatively?

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

What is the distinguishing feature seen on microscopy of CMV?

Owl's eye inclusion bodies

How is CMV usually spread?

Infected saliva or urine of asymptomatic children.

What are the features of congenital CMV?

``` FGR Microcephaly Hearing/vision loss Learning disability Seizures ``` *Most cases of CMV in pregnancy do not cause congenital CMV

How is CMV managed in pregnant women?

No prenatal treatment Close monitoring for USS abnormalities Offer termination :( Vaccination NOT available :(

Which herpes type causes genital warts more commonly?

HSV-2

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

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.

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

HIV

HIV can lead to what effects on the fetus?

Stillbirth Growth restriction Prematurity

At which stages is HIV transmission greater?

Early and late stage disease. When CD4 count low and viral load count high.

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

Screening done regularly on HIV+ve women. Regular CD4 and viral load tests

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

Pneumocystic carinii Pneumonia

What is the ideal treatment for HIV?

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

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

Lack of knowledge of HIV status (poor testing/education) Poor access to healthcare

Slapped check syndrome is caused by which virus?

Parvovirus B19

How long does slapped cheek syndrome last for?

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

Where does slapped cheek syndrome present on the body?

Bright red diffuse rash on both cheeks. Reticular mildly erythematous rash on trunk + limbs - raised, itchy

Why does fetal anaemia occur with parvovirus B19?

Suppression of erythropoesis in the fetal bone marrow/liver. Anaemia -> heart failure/hydrops fetalis

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

Severe fetal anaemia

What are women suspected of parvovirus infection tested for?

IgM to parvovirus (acute infection?) IgG to parvovirus (long term immunity after previous infection?) Rubella antibodies (as differential diagnosis)

How are women with parvovirus managed?

Supportive treatment only. Scan mothers regularly for anaemia. If severe hydrops found, in utero transfusion given.

How is Hep B transmitted?

Blood products or sexual activity

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

Maternal screening is routine in the UK for Hep B. *Hep-C screening restricted to high-risk groups - e.g. HIV positive.

What are risk factors for Hep C infection?

Drug abuse and sexual transmission

Which Hepatitis type leads to chronic hepatitis in 80%?

Hep C

How are Hep C women managed?

None existing Screen high-risk groups - e,g. HIV+ve women

How are Hep B women managed?

Antivirals for high viral load women Handle sensitively to avoid transmission to staff Neonatal immunisation

Which streptococcus must be checked for in mothers and neonates?

Group B Strep (Strep agalactiae)

When does Group B Strep usually infect fetuses?

During labour after ROM More likely in: preterm labour prolonged labour maternal fever

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

High dose IV penicillin throughout labour

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

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

Congenital abnormalities and infections in pregnancy Flashcards

(82 cards)