Perinatal Genetics and Genomics Service
The Perinatal Genetics and Genomics Service supports women and families when a pregnancy may be affected by a genetic condition.
Through specialist consultations, advanced testing and compassionate counselling, the team helps you understand findings, explore options and plan care.
As Ireland’s only dedicated perinatal genomics service, it provides expert, integrated support throughout pregnancy and beyond.
Our Perinatal Genetics and Genomics Service supports you when there is a concern that your pregnancy may be affected by a genetic condition.
We provide clear information, compassionate guidance and advanced testing to help you understand what is happening, what it may mean for your baby, and what options are available for your care.
This specialist service helps women and families when an ultrasound finding, family history or previous pregnancy experience suggests a possible genetic condition.
We use advanced genetic and genomic testing to diagnose genetic conditions before birth. This helps women understand the possible cause of abnormalities, asses the risk of reoccurrence, and plan care for the remainder of the pregnancy and after birth.
Our team works closely with the Fetal Assessment Unit, Neonatology, Pathology and other specialist services to ensure you receive coordinated, expert support. The National Maternity Hospital is currently the only hospital in Ireland offering this dedicated perinatal genomics service and forms the basis of the developing National Perinatal Genomics Service.
Prenatal genetics is a specialised area of reproductive medicine focused on understanding the genetic health of your baby before birth. It combines advanced laboratory testing with expert clinical assessment to identify inherited or spontaneous genetic conditions
The Perinatal Genetics and Genomics Service was established in 2021 and is led by Dr Sam Doyle, Consultant Clinical and Biochemical Geneticist with specialist expertise in reproductive genomics.
This service is available under the following circumstances:
- An ultrasound has shown an unexpected finding
- You have a personal or family risk of a genetic condition
- You are already managing a known genetic condition
- You have experienced recurrent pregnancy loss
- A previous pregnancy was affected by a genetic disorder
- A loss of a child where a genetic cause is suspected
Our goal is to help you understand what the findings may mean, what further testing is available, and how best to plan your care throughout pregnancy and after birth.
Specialist Clinical Genetics Consultations
Consultations are carried out with a consultant clinical geneticist or a genetic counsellor to help with comprehensive evaluation and guidance. Appointments are offered in person, with virtual appointments available when clinically appropriate. You are welcome to bring a partner or support person to help with the decision making process.
A consultation (typically at least one hour) usually includes:
- A detailed review of ultrasound findings
- Discussion of previous investigations
- Planning of follow‑up tests or referrals
- Review of your medical and family history to discuss potential diagnoses and underlying genetic causes
- Exploration of possible diagnoses
- Clear explanation of how a specific condition may affect your pregnancy or neonate
- Formal assessment of recurrence risk in future pregnancies
After your appointment
You will usually receive:
- A written summary of your consultation
- Information leaflets where helpful
- Follow‑up appointments if needed
- Recommendations for further tests or referrals
- If you are planning another pregnancy, you may be offered a pre‑pregnancy consultation to discuss future care and testing options.
Services Available
Genetic Counselling
Pre-test and post-test counselling are important components of the service, helping you make informed decision through comprehensive clinical information . You will receive:
- Clear explanations of available tests
- Guidance on what each test can and cannot detect
- Discussion of possible results and what they may mean for both current and future pregnancies
- Management options available after confirmed diagnosis
- Support in understanding options for this and future pregnancies
The counselling provides clarity and support. The team provides evidence‑based information to empower you, while all reproductive and medical decisions remain entirely yours.
Family History Assessment
Where relevant, we may take a detailed history and draw a family tree. We may ask about:
- Your relatives and previous pregnancies
- Known medical conditions in the family
- Previous genetic diagnoses or test results
- Dates of birth and family relationships
This helps us understand patterns that may be important for your care.
Prenatal Genetic and Genomic Testing
Testing options include:
- Non‑Invasive Prenatal Diagnosis (NIPD) — a maternal blood test analysing fetal DNA performed from early first trimester
Some tests investigate chromosomal or single gene disorders and may be offered when there is an increased genetic risk because of family history of scan findings.
- Chorionic Villus Sampling (CVS) — sampling placental tissue
- Amniocentesis — sampling amniotic fluid
All invasive tests carry a risk of miscarriage, which is communicated beforehand and discussed with couples at their fetal medicine appointment.
Laboratory testing may include:
- Chromosome analysis (identifies missing or extra genetic material)
- Single gene testing (for specific inherited conditions)
- Advanced genomic testing (screening thousands of genes due to abnormalities with an unclear cause)
Testing is conducted at specialist laboratories internationally. Results timelines are explained during your appointment based on your offered test.
Referral Pathway
Referrals are accepted from:
- Ultrasound and Fetal Medicine Clinics at the Hospital.
- GPs for known patients
- Self‑referral for women attending with a known family genetic condition
- Self‑referral for women previously seen by the service who wish to discuss options
All referrals are reviewed by the clinical lead and prioritised based on clinical need.
To request a referral form, contact the department by email.
Meet the Team
Dr. Sam Doyle
- Lead Consultant, Clinical and Biochemical Geneticist with a special interest in Perinatal genomics
- Dr Doyle is a graduate of the UCD School of Medicine and has completed an MD at UCD, a Masters in Leadership at RCSI and a Masters in Genomics at the University of Birmingham. Dr Doyle completed her postgraduate clinical genetics training at the RCPI. Dr Doyle took up a permanent consultant appointment at The Birmingham Women’s Hospital, where she was instrumental in developing and delivering the prenatal exome sequencing service across the Westmidland’s. Dr Doyle returned to Ireland in August 2021 to develop the Perinatal Genetics and Genomics service at The National Maternity Hospital. The service cares for women from all over Ireland. The service has grown and now has an Aspire Fellow funded by the RCPI, a full-time Principal Genetic Counsellor and a full-time administrator. Dr Doyle supervises students taking the Masters in Ethics at RCSI and regularly contributes to undergraduate and postgraduate education on Clinical Genetics in Ireland and the UK. Dr Doyle is a board member of the Postgraduate Certificate in Cancer Genetics & Genomics at RCPI. Dr Doyle is also a board member of the Fetal Genomics Group (UK) and a member of the international fetal sequencing consortium. Dr Doyle curates the Fetal exome sequencing panel with a group of prenatal Genetics experts in the UK.
Shafaque Fatima
- Genetic Counsellor
- Shafaque is a prenatal genetic counsellor at the National Maternity Hospital (NMH). Her academic foundation includes an MSc in Genetic Counselling (Italy), a B.Tech in Genetic Engineering (India), and degree in Medical Genetics (UK). With significant prior experience in cancer genetics at St James’s Hospital Dublin and international clinical placements across Italy, Hungary and India, she integrates a rigorous foundation with a compassionate clinical approach to support patients navigating the complexities of prenatal genetic screening and diagnosis.
Sean Fitzpatrick
- Genetic Counsellor
- Sean completed his BSc in Genetics at University College Cork before completing a MSc (Science) in Healthcare Ethics and Law from The Royal College of Surgeons (RCSI) in Dublin along with completing his MSc in Genetic and Genomic Counselling in Cardiff University. Sean completed a clinical placement as a student Genetic Counsellor in CHI Crumlin and since completion of his MSc in Genetic and Genomic Counselling, has taken his first role as a qualified Genetic Counsellor in The National Maternity Hospital
Melissa Murphy
- Patient Services at Clinical Genetics Service
- Melissa is the Clinical Genetics Office Administrator and brings over 20 years of experience in Medical and Legal Departments in both Ireland and Canada, to the Department Clinical Genetics.
- She is the primary point of contact for both patients and Healthcare Professionals in a highly sensitive and complex area of healthcare. She co-ordinates the referrals, provides information, schedules appointments and supports the Clinicians and patients as just part of a varied role.
Dr Rachel Elebert
- Clinical fellow in perinatal Genetics
- Dr Rachel Elebert earned her primary degree in Physiology from University College Dublin in 2007, before graduating with honours in Medicine from University of Limerick in 2012. She went on to undertake specialist training in Obstetrics and Gynaecology through the Royal College of Physicians of Ireland, achieving qualification in 2026. During her training, she was awarded an ESHRE & EBCOG-accredited fellowship in Reproductive Medicine and Surgery, based at Merrion Fertility Clinic and National Maternity Hospital and she is completing a Doctorate of Medicine at University College Dublin. In 2026, she joined the department to pursue a fellowship in Perinatal Genetics and Genomics
Contact Details
Perinatal Genetics and Genomics Service
Phone: 086 108 3086
Email: clingendepartment@nmh.ie