Inherited bleeding disorders in pregnancy GTG

Question 1

What is the abnormality in haemophilia A?

Answer 1

Absence of clotting factor VIII causing bleeding symptoms

Question 2

What is the abnormality in haemophilia B?

Answer 2

Absence of clotting factor IX causing bleeding symptoms

Question 3

Females may be carriers of haemophilia - why is it useful to be aware of this in pregnancy?

Answer 3

Increased risk of bleeding with invasive procedures, termination, miscarriage or at delivery
May have low levels of factor XIII/IX

Question 4

Risks in male neonates born to female carriers?

Answer 4

Intracranial haemorrhage, extracranial haemorrhage
Iatrogenic bleeding after delivery

Question 5

What are the options for prenatal diagnosis in severe haemophilia carriers?

Answer 5

Should be offered PGD
Should be offered fetal sex determination by ffDNA from 9 weeks
Should be offered CVS at 11-14 weeks if male baby
IF none of these are done, can offer 3rd trimester amniocentesis to diagnose

Question 6

What levels of factor VIII/IX levels for invasive procedures?

Answer 6

> 0.5iu/ml
1.0iu/ml for treatment

Question 7

How to improve levels of factor VIII/IX in antenatal period?

Answer 7

Desmopressin (DDAVP) to raise factor VIII OR recomb factor VIII if doesn’t work

Recombinant factor IX

Use TXA if levels <0.5 and in miscarriage until bleeding stops

Question 8

What to be aware of when using desmopressin (DDAVP)?

Answer 8

anti-diuretic effect therefore fluids should be restricted to 1 litre for 24 hours after use

Question 9

What to avoid in affected male fetuses?

Answer 9

ECV
Ventouse and midcavity forceps
FBS, FSE

Question 10

If levels of factor VIII/IX are <0.5 what should be avoided?

Answer 10

Regional anaesthesia
IM injections

Question 11

Things to consider for the neonate after delivery?

Answer 11

Cord blood sampling and diagnostic testing
Vitamin K by oral regimen
if low factor levels
Consider cranial USS
If signs of ICH - consider cranial MRI

Question 11

Post-partum care in haemophilia carriers?

Answer 11

active 3rd satge
maintain levels >0.5 for 3 days after NVW or 5 days after AVB/CS
TXA until lochia minimal
Avoid enoxaparin if factor level is <0.7

Question 12

Types of von Willebrand disease?

Answer 12

Type 1 - partial qualitative - partial deficiency of normal working vWF
Type 2 - qualitative - vWF present but defective
Type 3 - severe quantitative - absent vWF

Question 13

Who is more likely to have factor XI deficiency?

Answer 13

Ashakenazi Jews - 8% heterozygous