The National Maternity Hospital joins Global Chain of Light for Rare Disease Day

By admin, Monday, 28th February 2022 | 0 comments

The NMH is the only hospital in Ireland to offer a Perinatal Genomics Service. The aim of the service is to end the diagnostic odyssey for rare disease patients before birth by using cutting edge technology.

The National Maternity Hospital has today joined forces with the 300 million people living with a rare disease, their families and carers worldwide by turning green, blue, purple and pink to raise awareness and generate change for Rare Disease Day.  Rare Disease Day is an annual awareness day dedicated to elevating public understanding of rare diseases and calling attention to the special challenges people face.

In August 2021, The National Maternity Hospital established The Perinatal Genomics Service for women and their partners in pregnancy who receive the news that their baby has abnormalities on scan, are at risk of their baby inheriting a genetic condition, lose a baby in pregnancy or suffer recurrent pregnancy losses. Since then, it has seen over 150 patients at its clinic. The service aims to provide patient centred, timely, equitable and innovative care to couples who are faced with a congenital anomaly or facing a pregnancy where there is a risk of a genetic diagnosis.

There is no waiting list and pregnant patients are contacted within 24 hours of referral and seen at a time that suits them to discuss results or further testing.

Dr Sam Doyle, a consultant Clinical and Biochemical Geneticist with specialist expertise in reproductive genomics, is the lead clinician of the service. Speaking about the importance of today, Dr Doyle said, “We are proud to support Rare Disease Day today. Traditionally, patients described a diagnostic odyssey, which went on for years. In that time, many incorrect diagnoses are made along with difficult, sometimes painful procedures and additional hospital appointments. Parents can be devastated by what they are experiencing. They have many questions, which need to be answered, so that they can plan for the health of their baby. Early diagnosis means that patient centred treatment is initiated at birth, indeed in time, there may be in pregnancy treatments, which will improve outcomes.”

Prof Shane Higgins, Master at The NMH said, “We feel this an area of critical importance for maternal health. The perinatal genomics service we offer is integrated into the hospital and means that parents have the benefit of working with a multidisciplinary team. Our geneticist attends ultrasound scans in the Fetal Assessment unit as well as collaborating with the hospital's pathologists, gynaecologists and neonatologists. Pre and post-test genetic counselling is central to our service delivery and all patients are supported to make decisions that are right for them, armed with the most up-to-date information.”

“Parents attending the clinic have so many questions”, Prof Higgins continued. “Why did this happen? Will it happen again? What might this mean for my baby? Is it something that I did? Very often, a genetic diagnosis gives these answers. For so many, not getting those answers adds to the trauma of an already devastating situation. Some women choose not to get pregnant again, others get pregnant again but their anxiety is heightened by the lack of answers.”

Dr Doyle highlighted that genetic testing can result in clear cut answers, but in some cases incidental findings can be difficult to deal with. Clinical geneticists along with genetic counsellors are trained to prepare people for these potential outcomes. To communicate complex information in an easy to understand patient centred way. Non-directive counselling is essential to people faced with devastating decisions. The service provides this to couples. A genetic test can unlock information which has implications for family members. The genetics service at The NMH highlights this and allows the parents to make decisions about sharing that information when they are ready to do that.

Parents in these situations have struggled to get access to answers to some of these questions in the past. Technology has advanced in this area, particularly in the past 2-3 years. Expertise in this area has not been available until August 2021 in Ireland. For pregnant women attending The NMH, they have access to a clinical genetics service if there are concerns for fetal well-being in pregnancy. The service is dynamic and pregnant women referred by Obstetricians in pregnancy are contacted by the service within 24 hours of the referral. For those worried about the welfare of their baby, this timely access is critical.

Dr Doyle has been providing some support to other maternity units since coming back to Ireland. This has worked well for these families. Virtual platforms act as a safe effective surrogate for in room multi-disciplinary team discussions and the patients have benefited from this. Expansion of this service to provide national care would mean more women would have answers to the many difficult questions which arise.

For further information, visit

- Ends -

For further information or an interview with Dr Samatha

About Dr Doyle, please contact Jennie Cotter, Communications Officer - / 086 776 1890

Dr Doyle is a consultant Clinical and Biochemical Geneticist with specialist expertise in reproductive genomics. Dr Doyle is the only perinatal geneticist in Ireland and is based at the National Maternity Hospital where she is developing the perinatal genomics service.

Dr Doyle practiced as a consultant at The Westmidland’s Genetic service based at the Birmingham Women’s Hospital. Dr Doyle played a leadership role in the delivery of prenatal exome sequencing across the Westmidlands and was involved in taking this transformational technology from research to clinical care. This technology allows for the diagnosis of rare and ultra-rare genetic disorders in pregnancy, with testing turn-around times of 14 calendar days. This early diagnosis allows for early, targeted treatment which alters the natural history of disease.

Dr Doyle is a member of the National Fetal Genetics group in the UK and is involved in informing National guidelines in England.

While completing her Doctorate in the Epidemiology and treatment of Childhood obesity Dr Doyle worked academically for UCD. Dr Doyle was awarded a scholarship to complete a Masters in Leadership through RCSI. While working in Birmingham Dr Doyle was awarded a scholarship to complete a Masters in Genomics at the University of Birmingham.

Dr Doyle has won international awards for research and is invited to lecture nationally and internationally.

Dr Doyle is a member of the RCPI faculty of Paediatrics.

Dr Doyle is actively involved in medical education and lectures for UCD, RCSI and The Royal College of Physicians of Ireland. Education of health professionals about genetic concepts is critical in allowing mainstreaming of genetic testing which will allow early diagnosis of genetic conditions.