Inherited Disease

Preimplantation Genetic Testing allows genetic testing of an embryo for inherited disease prior to implantation and before pregnancy occurs.


For close to two decades, CARE fertility has pioneered Reproductive Genetics in the UK and Ireland. We’ve been at the forefront of making it feasible to test embryos for specific genetic diseases before the implantation stage.

Certain couples may already know about their susceptibility to having a child with a genetic (inherited) disease, like Cystic Fibrosis.

Other couples may have experienced miscarriages or unexplained difficulties in conceiving that may be genetically linked.

This highly specialised test allows families affected by an inherited disease to reduce the risk of passing the condition on to the next generation. PGT-M and PGT-SR are used during IVF treatment to identify embryos that do not have a genetic condition and to help families have healthy children.

4 Female Embryologists in white coats standing and smiling

Who Might Benefit From PGT-M?

PGT-M for Monogenic/Single Gene Defects

Some couples or individuals are at risk of transmitting an inherited disease to their children – such as Cystic Fibrosis, Beta Thalassaemia and Fanconi Anaemia.

PGT-M can be used for diagnosis of a genetic disease in embryos prior to implantation and pregnancy.

A bearded man in his 30's sits with an attractive woman in a doctor's office
PGT-SR for Chromosomal Structural Rearrangements

Who Might Benefit From PGT-SR?

PGT-SR for Chromosomal Structural Rearrangements

1/200 individuals is a carrier of a balanced chromosome rearrangement.

PGT-SR is available for carriers of balanced reciprocal translocations, Robertsonian translocations, inversions, and other complex chromosome rearrangements.

Though carriers of balanced chromosome rearrangements are typically healthy, they are at increased risk for producing embryos with the incorrect amount of chromosomal material, resulting in reduced viability or potential for genetic disease.

PGT-SR can help identify embryos with the correct amount of chromosomal material that are most likely to lead to a successful pregnancy and healthy live birth.

For What Conditions Can Be Tested?

PGT-M is licensed by the HFEA… for a full list of the conditions that have currently been licensed please contact us or contact HFEA

What If The Condition Has Not Been Licensed?

There are criteria for licensing a genetic condition which is listed by the HFEA. CARE Fertility can apply for a license to the HFEA on your behalf, the licensing committee meet every few months when approval may be granted then.

couple holding both of their child's hand to swing them
Click here to find more information about our Reproductive Genetic Testing.
couple reproductive genetics

Reproductive Genetics-What’s Involved?

1. Consultation: A consultation with one of our fertility doctors to ensure that the fertility treatment is possible and appropriate and to explain to the couple what is involved in the process, including the chances of success, risk and costs.

  • If the couple requires testing for inherited disease (ie. PGT-M or PGT-SR), then an additional consultation with a Clinical Geneticist or Genetic Counsellor is necessary so that the couple are fully informed about the risks and impact of the illness.

2. Fertility treatment: All couples will require fertility treatment, such as IVF, to produce embryos for testing. Even couples who have no difficulty conceiving, but who wish to benefit from genetic testing will require IVF.

couple reproductive genetics
3. Embryo Biopsy and Testing: This highly specialised procedure involves removing a few cells from the embryos approximately five days into their development. The embryos are then frozen and the cells are sent for testing to a specialist genetic testing centre.

4. Follow-up Treatment / Embryo Transfer:  It is hoped that at least one or more of the tested embryos will be considered suitable and viable for transfer to the womb in the hope of producing a healthy baby.

We are delighted to work with the following Genetic Counsellors.

Dr Willie Reardon

Dr Reardon has over 25 years experience in Clinical and Medical Genetics, specialising at the world-renowned Great Ormond Street Hospital (1988 – 1999) and the Hospital for Sick Children, Toronto (2007).  He is also the Consulting Clinical Geneticist for the National Maternity Hospital, Dublin. Please click HERE for his website.

Dr Samantha Doyle

Dr Samantha Doyle.  Dr Doyle is a consultant Clinical and Biochemical Geneticist with specialist expertise in reproductive genomics.  She is a consultant at the National Maternity Hospital where she leads the prenatal genomics service.  Dr Doyle completed a fellowship at the Department of Clinical Genetics at Birmingham Women’s Hospital and is a member of the National Fetal Genetics Group in the UK. She can be reached at (01) 663 5072.

Dr Anand Saggar 

(Consultations currently offered remotely or via the telephone).

The International Gene Clinic

Telephone: +44-7970-886663



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