MFM

Question 1

Microarray vs karyotype

Answer 1

Microarray
- Faster
- Detects single genetic defects rather than chromosomal
- However may identify an unknown CNV with unsure penetrance (if so refer to genetics and MFM)
- Less human error
- May identify adult onset risk not yet known or consanguinity

Karyotype
- May identify chromosomal balanced translocation/triploid and mosaicism

Question 2

Cleft lip

Question 3

HPA1a antibodies

Answer 3

bb negative (?majority of people)
aa positive ?2%

Can cause fetal and neonatal alloimmune thrombocytopenia

Can be associated with IVH

Can be treated with referral to MFM
Check risk to baby
FBS in pregnancy
IUT
IVIG from 16 or 28 weeks
Consider steroids as second line
Consider CS

Question 4

Causes of hydrops

Answer 4

Immune or non-immune
Non immune
- Infections
- Anaemia (Parvovirus fits in both)
- Cardiac anomalies and arrhythmias
- Aneuploidy
- Placenta abnormalities
- Other anatomical anomalies

History
- Check MSS1, anatomy scan
- Check recent infections
- Check recent trauma
- Check antibodies
- FBC/thalassemia history

Investigations
- CBC, U&E, LFTS
- G+H, abs
- Kleihauer
- USS - tertiary level + MCA+PSV
- CTG
- Torch screen
- Amniocentesis for PCR for torches and aneuploidy screen etc

FU
- MFM, GS, FU tests above, consider TOP, check for mirror syndrome

Question 5

Isoimmunisation (antibodies)

Answer 5

Referral cut off
Anti-D, anti-c titre ?1;16
Anti K anything
Anti all others then 1;32

Mg
- Test titres monthly to 28 weeks then fortnightly
- Referral as needed
- Check babies risk with father and cfDNA
- MCA PSV ?weekly or fortnightly? and hydrops monitoring
- Make it to 37 weeks if okay
- Okay for NVD if normal
- Ensure blood at bank, paeds, cord bloods etc

Delivery rather than IUI after 34 weeks

Question 6

TORCH management

Answer 6

History
- Viral illness
- Exposure risk
- MSS1/AS review

Investigations
- Serology, amnio, MRI, USS

Mg
- MFM
- Above
- Treatment eg abx
- Consider TOP
- Referral for counselling with paeds and then paeds review
- Consider placenta swabs etc

Question 7

IVDU

Answer 7

Management
- Referral to CADs
- MDT
- Cessation recommendation
- Monitor for risks (abruption, IUGR, arrhythmias, anomalies) (growth scans etc)
- Dentition, weight gain
- Paeds postpartum
- Urine toxicology, STI check, Hep B/C