Pre-implantation Genetic Testing


Pre-implantation Genetic Testing

PGT is a form of testing carried out during IVF treatment to determine if any embryos are affected by a genetic or chromosomal disorder.

Waterstone Clinic are specialists in Pre-implantation Genetic Testing. Our team delivered the first clinical pregnancy and the first baby born in Ireland following embryo biopsy. We have provided this service for over a decade: your embryos are in safe hands.

Our team carries out embryo biopsy for PGT-M, PGT-SR and PGT-A testing. Our PGT team will discuss your specific needs with you and, together with the laboratory and genetic counsellor, will advise on your specific case.

It is essential to understand that while PGT aims to reduce your chance of having a child with a specific disorder, it cannot test for all birth defects.

The Process
Step by Step

Test Preparation (Cycle Pre-work): Our dedicated PGT Team will complete cycle pre-work with you. If you are undergoing PGT-M or PGT-SR treatment, the test will be developed specifically for you before your treatment.

ICSI Treatment: You will undergo ovarian stimulation to develop a number of follicles. When they reach the right size, it will be time to collect the eggs from the ovaries. This procedure takes place under light sedation. The eggs will be fertilised in the laboratory with an ICSI procedure.

Embryo Biopsy: The embryos will be monitored as they develop, and when they reach the blastocyst stage, the embryologist will biopsy a number of cells from the embryo. The embryos will then be frozen and stored at Waterstone Clinic. The biopsy cells will be sent to the genetics lab for testing.

Genetic Testing: The cells will be genetically tested for the specific condition. The results will be delivered to Waterstone Clinic within four weeks, noting the embryos that appear safe for transfer.

Embryo Transfer: If, following the testing, there are embryos that appear safe for transfer, you can prepare for an embryo transfer. Two weeks after this procedure, you can take a pregnancy test.

PGT-M Testing

PGT-M: Preimplantation Genetic Testing for Monogenic/Single Gene Defects

Genetic disorders can be inherited, and if you become aware of a particular disorder in your family, whether present or carried, PGT-M testing can reduce the risk of your child inheriting that condition.

Our team has carried out embryo biopsies to test for single-gene disorders, including Cystic Fibrosis, Fragile X syndrome, Duchenne Muscular Dystrophy, Myotonic dystrophy, Tay-Sachs disease, Beta-thalassaemia, Haemophilia A, Sickle cell disease.


Preimplantation Genetic Testing for Aneuploidy (PGT-A)

PGT Testing can also evaluate the number of chromosomes contained in the cells of embryos. It is not uncommon for embryos to be affected by “Aneuploidy”: random chromosomal abnormalities such as one too few or one too many chromosomes. Embryos with aneuploidy are more likely to result in a failed IVF cycle or miscarriage. Aneuploidy can also result in the birth of a child with a chromosomal condition such as Down syndrome (Trisomy 21).

PGT-A  testing aims to avoid the risk of transferring aneuploid embryos and decrease both the risk of miscarriage and the chance of having a baby with a chromosomal anomaly. PGT-A may be recommended to patients who have experienced recurrent or unexplained miscarriages, repeated unsuccessful IVF cycles, or who are at risk of aneuploidy due to the age of the intending mother.

PGT-SR Testing

PGT-SR – Preimplantation Genetic Testing for Structural Rearrangements

Chromosomal disorders can be inherited, and if you become aware that a chromosomal disorder, such as translocation or an inversion in the chromosomes, is carried in your family, PGT-SR testing can reduce the risk of your child inheriting chromosomes with missing or additional pieces, which can result in serious health issues.

PGT-SR may be recommended for patients who have a child or a pregnancy affected by a chromosomal rearrangement or if they themselves are carriers of an inversion, a reciprocal translocation or a Robertsonian translocation.

Our Dedicated PGT Team

Waterstone Clinic has a dedicated PGT team and dedicated PGT laboratory space. Fertility Nurse Specialist Edel is the PGT-coordinator. Edel assists patients who will undergo genetic testing, guiding them through the process, and coordinates their cycles with the PGT team in the laboratory and the genetic testing laboratory.