Antenatal screening Flashcards

1
Q

What can be the consequences of congenital rubella?

A

can lead to deafness, brain damage, heart defects and cataracts

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2
Q

When is amniocentesis carried out?

A

done between 15 and 20 weeks

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3
Q

What is chorionic villous sampling (CVS)?

A

where a sample is taken of the placenta

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4
Q

When does CVS take place?

A

10-13 weeks

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5
Q

What is amniocentesis?

A

where fluid is aspirated that contains fetal cells shed from the skin and gut

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6
Q

What is the main risk of amniocentesis and CVS?

A

miscarriage

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7
Q

What is karyotyping?

A

place chromosomes in order from largest to smallest to see is any extra/missing/damaged

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8
Q

What is nuchal translucency?

A

fluid at the back of the neck of fetus - indicates fetal heart abnormality and downs

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9
Q

What is a trisomy?

A

extra copy of a particular chromosome in each cell

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10
Q

What are trisomies 21, 13 and 18

A

Trisomy 21 (downs)- means there’s an extra copy of chromosome 21 in each cell. Can cause heart defects, intellectual disability and increased chance of epilepsy, leukaemia and dementia

Trisomy 18 (Edwards) - most die at birth or soon after, have severe abnormalities, have small chin and low set ears

Trisomy 13 (Patau’s) - most die soon after birth, will have congenital heart defects, microcephalopathy, cleft palate, facial defects, UG malformations, abnormal hands and feet etc.

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11
Q

What is the combined test vs quadruple test?

A

Combined test 🡪 Nuchal translucency and PaPP-A
and B-hCG (11-14 weeks)

Quradruple test 🡪 B-hCG, AFP, Inhibin-A and free
estriol 3 (after 14 weeks)
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12
Q

What are the results of the screenings in the trimosies?

A

diwns:
Low alpha fetoprotein (AFP)
Low oestriol
High human chorionic gonadotrophin beta-subunit (-HCG)
Low pregnancy-associated plasma protein A (PAPP-A)
Low inhibin A
Thickened nuchal translucency

trisomy 18 (Edward syndrome) and 13 (Patau syndrome) give similar results but the PAPP-A tends to be lower

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13
Q

What is PAPP-A

A

pregnancy-associated plasma protein A - rpoduced by placenta and indicates good placenta implantation

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14
Q

What is the wilson junger criteria for screening?

A

There needs to be good knowledge of the test, disease, treatment and be cost-effective to be an acceptable screening procedure

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15
Q

What should be asked about at the booking clinic?

A

Personal: fertility, PMH (thyroid, DM, asthma, epilepsy, asthma, htn, heart or renal disease), BMI, mental health, smoking and drugs, DA

Fhx: congenital abnormality, pre-eclampsia, VTE, DM, inherited conditions, MHP first degree relative

Obstetric hx: miscarriage or stillbirth or neonate death, past pre-eclampsia, gestational DM, rhesus, induction, operative birth, breech, shoulder dystocia, PPH

Currently: hyperemesis, PV bleed, abdo pain, USS

Screening: FBC for anaemia and thrombocytopenia, blod group, rubella, Hb electophoreisis, hep B, syphilis, HIV

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16
Q

When are the USS?

A

First one at 10-14 weeks used for viability and dating pregnancy

Second one at 18 weeks-20 weeks+6 days. For structural abnormalities –gives chance to terminate

17
Q

What infectious diseases do we screen for?

A

HIV
Hep B
Syphilis

18
Q

What haemoglobinopathies are screened for if lady or partner is at higher risk?

A

Alpha and beta thalassemia’s

SCD

19
Q

What new born screening tests do we do?

A

Heal prick test/ blood spot at 5-8 days
Look for CF, haemoglobinopathies, congenital hypothyroid
Inherited metabolic disorders eg phenylketonuria
Hearing screening
NIPE – new born and infant physical exam for congenital heart defects, eye problems, dysplasia of the hips, undescended testes.

20
Q

What infections do we not routinely screen for and only do if lady is at risk of them?

A
chalmdyia
CMV
toxoplasmosis
herpes
rubella
21
Q

What are the routine booking investigations offered?

A
urine culture
FBC
syphilis serology
HIV and hep B
glucose tolerance test
rhesus status
22
Q

How are haemoglobinopathies screened for?

A

electrophoresis

23
Q

What medications should be prescribed for women during pregnancy?

A

Vit D and folic acid supplements

aspirin if risk of pre-eclampsia

24
Q

What immunisation should pregnant women get?

A

flu vaccine and pertussis

hep B if high risk