PGT-M: Helping Families Break the Chain of Inherited Disease

For couples who carry a serious inherited condition in their family, PGT-M makes it possible to have a biological child free from that disease. This is a short guide to what PGT-M is, who it is for, and how the process works at HOPE — Malta’s only licensed PGT-M centre.

What is PGT-M?

PGT-M stands for Preimplantation Genetic Testing for Monogenic Disorders. It is a specialised test performed on embryos created through IVF, before they are transferred to the womb.

PGT-M is fundamentally different from PGT-A. Where PGT-A checks the overall chromosome number of an embryo, PGT-M asks one very specific question: does this embryo carry the particular disease-causing mutation that one or both parents are known to carry?

Monogenic disorder — a disease caused by a single faulty gene, inherited from one or both parents.

Carrier — a person who carries the genetic change but is not affected by the disease themselves.

Who is PGT-M For?

PGT-M is offered to individuals or couples who are confirmed carriers of, or affected by, a specific inherited disease that they could pass on to their children. For many of these families, PGT-M is the only realistic way to have a biological child free from the condition that affects them.

Without PGT-M, the alternatives are limited: conceiving naturally and accepting the inheritance risk — which, depending on the condition, may be 25% or 50% per pregnancy.

You may be a candidate for PGT-M if:

You or your partner have been diagnosed with one of the conditions approved under Maltese law

Genetic testing has confirmed that one or both of you carry a disease-causing mutation

You have a family history of an inherited condition and want to avoid passing it on

You have previously had a child or pregnancy affected by an inherited disease

Conditions Approved For PGT-M in MALTA

Under the Maltese Embryo Protection Act, PGT-M is currently authorised for nine serious inherited conditions. These were selected for their severity and significant impact on life expectancy and quality of life.

Finnish Nephrotic Syndrome

Autosomal recessive

Gangliosidosis

Autosomal recessive

Huntington Disease

Autosomal dominant

Joubert Syndrome

Autosomal recessive

Maple Syrup Urine Disease

Autosomal recessive

Nemaline Myopathy

Autosomal recessive / dominant

Spinal Muscular Atrophy

Autosomal recessive

Tay-Sachs Disease

Autosomal recessive

Walker-Warburg Syndrome

Autosomal recessive

If you carry a condition that is not on this list, the Embryo Protection Authority can consider individual applications for inclusion. We can discuss this with you at consultation.

The PGT-M Pathway, Step by Step

PGT-M is integrated into a standard IVF cycle, with a few additional steps that relate specifically to the genetic testing. The process is structured, and we will guide you through each stage.

Initial assessment and genetic counselling

You begin with the same clinical evaluation as any IVF patient — baseline investigations, hormone profiling, and consent documentation. In addition, you meet with a certified genetic counsellor who reviews your family history, explains how the condition is inherited, and discusses what your test results will mean for you.

Preparation with the reference laboratory

This is the part that is unique to PGT-M. The case is opened with our partner European genetic testing laboratory, and DNA samples are collected from you, your partner, and where possible from family members. These samples allow the laboratory to design a test that can precisely track the inheritance of the specific mutation in your future embryos.

Ovarian stimulation and IVF

Once the laboratory has validated the testing strategy, you begin a standard IVF cycle: individualised ovarian stimulation, oocyte retrieval, fertilisation by ICSI, and embryo culture to the blastocyst stage. This stage is identical to a conventional IVF cycle.

Embryo biopsy and genetic analysis

At day 5 or 6 of embryo development, a small number of cells are gently removed from the outer layer of each suitable embryo. The embryos are then frozen, and the cells are sent to the reference laboratory for genetic analysis. Results are typically available within a few weeks.

Regulatory coordination

Throughout the process, all documentation is submitted to Malta's Embryo Protection Authority in line with legal requirements. We handle this entirely on your behalf — it does not affect your treatment timeline.

Embryo transfer

Once results are available, embryos found to be unaffected by the condition are identified for transfer. You then proceed with endometrial preparation and frozen embryo transfer — exactly as in any IVF cycle using vitrified embryos.

A Maltese First

HOPE played a central role in Malta's first successful PGT-M case, resulting in the birth of a healthy child.

"This was an extraordinary moment for us as a team and for Malta as a country. For this couple, PGT-M was the only way to have a child free from disease."

— Dr. Christine Schembri Deguara, Medical Director, HOPE Fertility & IVF

The case followed the full PGT-M pathway from genetic counselling through to a healthy live birth, and confirmed that families in Malta can now access this life-changing technology without travelling abroad.

Speak With Our Team

If you carry an inherited condition in your family, we are here to help you understand your options.

Every PGT-M journey is different, and the right path begins with a careful, unhurried consultation. We will explain everything, answer your questions, and help you decide what is right for you and your family.

Book a consultation →

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