Expansion of in-pregnancy testing for rare genetic conditions 

Dr Sam Doyle said the test results can help parents avoid “a diagnostic odyssey” for answers when a child is born with a rare condition. Picture: Bryan James Brophy 

Parents who think their baby may have a rare genetic condition can now access in-pregnancy testing to get a diagnosis which allows them better prepare for their child.

So far prenatal genomics services are only available at the National Maternity Hospital (NMH), for public and private patients, but it is hoped to expand this nationally with funding from the HSE.

The genetic test can identify a range of conditions, with results available in 14 days, and is commonly used in NHS hospitals in Britain and across the EU.

Dr Sam Doyle, a consultant clinical and biochemical geneticist with specialist expertise in peri-natal genomics, said the information can help parents avoid “a diagnostic odyssey” for answers when a child is born with a rare condition.

Since August last year she has seen 10 to 12 women every week. She does not take referrals but has worked remotely with other hospitals, and treated women at NMH from Cork and Donegal who were attending for other specialist care.

“Once you have a diagnosis it is incredible the difference it makes,” she said, adding she can then contact children’s hospitals on the family’s behalf.

So I write a letter and outline international best practice for this condition, say this is what should happen at birth, this is what should happen in the first six months. 

In her experience some women were able to deliver their baby in their local hospital as the staff were already prepared, instead of having to travel to Dublin.

Dr Doyle previously worked at Birmingham Women’s Hospital where this test, prenatal exome sequencing, was researched and trialled.

“They (parents) will have the information at 25 weeks pregnancy, we are able to provide them with information leaflets, link them with support groups, and outline to them a care plan for their baby,” she said.

Testing can be done after a miscarriage to help parents understand why this happened.

“It is really really emotional, that they know and can say ‘oh dear this is what was wrong with my baby’. Those questions never go away until they get an answer,” she said.

“Some people will have no more babies because they are so terrified of it happening again." 

A common theme is the mother will blame herself, it is a powerful thing when I come back say this is what happened. You can say it is absolutely not (your fault).

Sequencing can also help other people in a family.

“Once we know about it we can do a genetic screen on the rest of the family, identify the people at risk of getting sick because sometimes a condition might not come on until you are in your teens or 20s,” she said.

Her role is a two-year temporary position, funded by the hospital which has applied for funding to make this permanent, she said.

“I hope that it grows and people see the value in it,” she said.

“Expansion of this service to provide national care would mean more women would have answers to the difficult questions.

“Pre- and post-test counselling is central to service delivery and all patients are supported to make decisions that are right for them, armed with the most up-to-date information,” she said.