Case 83 – the beginning

You are in a joint obstetric haematology clinic and have been referred a 24 year old lady who is 13 weeks pregnant P0 G1

You take a family history and find her father and paternal uncle have severe Haemophillia A. See pedigree below:

She is worried about the prospect of having a child with Haemophillia A. She is keen to know if there is anything that can be done to find out of the pregnancy is affected. 

1) How likely is she to be a carrier of Haemophillia A? 

2) What options are there for pre delivery diagnosis of Haemophillia A ?

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