Perinatal Genomics Service

Introduction to the Perinatal Genomics Service 

Welcome to the Perinatal Genomics Service which was introduced at the hospital in August 2021 by Dr Sam Doyle, Consultant Clinical and Biochemical Geneticist with specialist expertise in reproductive genomics (pictured to the right). The NMH is currently the only hospital in Ireland to offer this service. 

The Perinatal Genomics Service is diagnosing babies with fetal abnormalities who have rare genetic conditions before birth by using cutting edge technology. 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. Early diagnosis means that patient centred treatment is initiated at birth, indeed in time, there may be in pregnancy treatments, which will improve outcomes. The service is integrated into the hospital and the geneticist attends ultrasound scans in the Fetal Assessment unit as well as collaborating with the hospital's pathologists, gynaecologists and neonatologists. Once DNA is available, we can perform  investigations including analysis of your baby's chromosomes and the new cutting-edge exome sequencing to review your baby's genes. Pre and post-test counselling delivered by a member of the perinatal genomics team 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.

The Service helps people who have a risk of having a baby affected by a genetic condition, or have signs and symptoms identified on scan which may be caused by an underlying genetic condition. We also help couples who have lost a baby to find a diagnosis which informs the risk of recurrence.

The Service supports other specialist clinics e.g. The TLC Clinic, The Complex Menopause Clinic and the Adolescent Gynaecology Clinic at The NMH.

Who is the Service for?

Women who:

  • Receive the news that their baby has abnormalities on scan (FAU Referral).
  • Are at risk of their baby inheriting a genetic condition.
  • Have a genetic condition and are attending the Maternal Medicine Clinic at The NMH.
  • Lose a baby in pregnancy.
  • Suffer recurrent pregnancy losses. 
  • Women with premature ovarian insufficiency attending The NMH Complex Menopause Clinic.
  • Women attending the NMH Adolescent Gynaecology Clinic.

Referral Pathway

The Service accepts referrals from the following avenues:

  • The Fetal Assessment Unit (FAU) at The NMH (This service cares for women who have been referred from other fetal assessment units nationwide.)
  • The Adolescent Gynaecology Clinic at The NMH.
  • The Complex Menopause Clinic at The NMH.
  • The Antenatal Clinic at The NMH.
  • The Maternal Medicine Clinic at The NMH.
  • GPs in The NMH Catchment area.
  • Self-referrals for patients attending The NMH for their pregnancy where there is a known genetic condition in a family.
  • Patients outside The NMH, may wish to consider a private consultation with Dr Sam Doyle.

See blue bar at the bottom of this page for Referral Form. All referrals are triaged by Dr Sam Doyle, Clinical lead of the Service. The clinical genetics team will be in contact with you to organise an appointment. Referrals from FAU will be contacted with 24 hours to plan an appointment. Other referrals are added to the waiting list.

Your appointment at the Perinatal Genomics Service at The NMH

We recommend bringing a support person to your first consultation, not only for support but also to help with processing what can be difficult and complex information. Your first appointment can take at least one hour; all appointments are individualised.

Depending on the reason for your referral, we may discuss:

  • Your Family History and draw a Family Tree*.
  • Genetic testing and how the testing will take place.
  • A diagnosis, cause and treatment of genetic disorders. Sometimes the clinical geneticist will need to examine you.
  • How likely the genetic condition is to happen in a family.
  • The choices other family members have.
  • Options regarding reproduction and pregnancy.

We aim to give you the most up-to-date information, which may help you make decisions but we will not tell you what to do. Unfortunately, those decisions need to be made by you. The team will be happy to meet again to discuss any concerns and questions you may have. Please call 086 108 3086 (8am - 4pm Mon-Fri) to arrange an appointment.

If you need an interpreter for your appointment, please let us know. We are happy to arrange this for you.

*To draw a family tree, we may ask you about:

  • Full names (including maiden names) of family members.
  • Dates of birth (if possible).
  • Information about pregnancies and health problems in the family.

Will I need any tests?

Sometimes after assessing your case, the clinical geneticist or genetic counsellor may decide that testing is an option.

In pregnancy, testing your baby can take place in a number of ways:

  • A blood sample from you and testing of your baby’s DNA which is extracted from your blood. This is possible in specific circumstances only and is called non-invasive prenatal diagnosis (NIPD). This test can be performed from 9 weeks gestation.
  • A Chorionic Villus Sample (CVS) is taken and your babies DNA is extracted. The Fetal Medicine team will talk you through this procedure.
  • An amniotic fluid sample is taken and your babies DNA is extracted. The Fetal Medicine team will talk you through this procedure. Sometimes we will take a blood sample from you, your partner or other family members. We can extract your DNA from your blood.

Sometimes other tests are required. We will discuss this with you and obtain your consent for investigations. 

Sometimes we will perform testing on tissue from your baby.

Genetic testing is very complex and can take a long time. Testing generally takes place in very expert laboratories in the UK, Europe or North America. Some tests can take up to 12 months. In general, we aim to have results back quickly in pregnancy and some tests can be back within a week while others may take 3-4 weeks. This can be a very worrying time and unfortunately there is nothing we can do to speed this up. If you would like additional support, we can refer you to a counsellor.

There are situations where we cannot offer genetic testing as we don’t know enough about certain conditions yet.

What happens next?

After the appointment, the clinical geneticist or genetic counsellor will usually write to you summarising the information you have been given. You may also be sent an information leaflet.

Usually a couple of appointments are needed. Sometimes we may arrange to meet with you again in the future if we have more information to discuss with you.

If you are planning pregnancies, we will be happy to see you again and we may advise you to make contact with us early in pregnancy to discuss options for that pregnancy.

Sometimes we may recommend referral to other services. We will discuss this with you.

We will write to the other health care professionals involved in your care, with your permission.

Contact Details

Phone: 01 637 3100

Mobile: 086 108 3086 (8am – 4pm Mon – Fri)


Private consultation: 087 435 2899

What happens to my information?

Your information is securely stored at The National Maternity Hospital. Your information may need to be shared with other health care professional involved in your care. We will discuss this at your appointment. Some of your information may be used for clinical audit and for educating staff. Sometimes we may discuss research opportunities with you. All of this ensures quality of patient care is sustained and improved

If you would like to find out more about how your information is used please refer to