Pre-implantation genetic testing should be offered for antithrombin deficiency

Pre-implantation genetic testing should be offered as an option for both men and women with antithrombin deficiency who are considering having children, the British Society for Haematology (BSH) annual conference has heard.

The first patient to receive the treatment in the UK has just this month had her second healthy baby at Guy’s and St Thomas’ Hospital in London, said haematologist Professor Beverley Hunt.

The woman, who had a known antithrombin deficiency as well as a serious family history was given approval in 2017 for embryo testing for the genetic defect, before having IVF.

In 2019, she had a healthy baby girl and she was monitored closely as well as being given low molecular weight heparin as appropriate throughout her IVF and pregnancy.

The patient had “obsessive monthly” anti-XA monitoring as well as careful analysis of troughs and peaks, Professor Hunt who is Professor of Thrombosis and Haemostasis at King’s College London and Consultant Haematologist at Guy’s and St Thomas’ said.

“She wanted to have an elective caesarean so did the anxious obstetrician so we went for that. She had the dose of dalteparin 24 hours before and antithrombin concentrate 12 hours before, so she was covered for the procedure,” she explained.

“More recently she’s just had her second and we’ve got the perfect regimen and did exactly the same — and last week she delivered a very healthy 3kg little girl and placenta was in a very good state.”

The conference also heard from Mr Tarek El-Toukhy, the clinical lead of the Assisted Conception Unit at Guy’s and St Thomas’, about the advances that had been made in pre-implantation genetic diagnosis.

He explained that there are 300 conditions that this can be offered for but noted that for couples not eligible for subsidised IVF, it could be a very expensive option.

Outlining barriers to wider uptake in general he noted: “I think the biggest barrier for us is that people are not aware of the availability of this service and how many genetic conditions it can cover”.

Professor Hunt concluded: “Pre-implantation genetics is available, we can use it now in antithrombin deficiency and we should be offering it across the UK to all our patients both men and women to consider whether they want to take it up”.

“And I think we need to think about the other patients with high thrombotic risk. I’ve got a few ladies with significant thrombotic history with protein C deficiency, should they be considered as well for this programme?”

She added that regardless, the gold standard for all patients with antithrombin deficiency should be genetic testing so clinicians can fully define them and understand their mutation.

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