PGT-M: Prevent a Hereditary Disease in Your Family from Passing to the Next Generation
PGT-M (Preimplantation Genetic Testing for Monogenic Disorders) is a specialized genetic screening method that determines, before transfer, whether a known single-gene hereditary disease in the family — such as thalassemia, cystic fibrosis, or Huntington's disease — has been passed on to the embryo.
In short: PGT-M enables the selection of embryos that do not carry the known familial genetic risk, preventing the disease from being passed to the next generation.
What Is PGT-M Testing?
For couples with a family history of a single-gene hereditary disease, or known to be carriers, PGT-M determines with high precision whether the embryo carries this specific genetic mutation. The test requires a diagnostic protocol designed in advance, tailored to the family's specific genetic makeup.
This analysis, carried out using next-generation sequencing and advanced molecular methods, is interpreted by clinical genetics specialists, enabling the confident selection of embryos that do not carry the disease for transfer.
How Does the PGT-M Process Work?
• The couple's and family's genetic profile is first analyzed to design a disease-specific testing protocol (informatics workup).
• During IVF treatment, embryos are cultured to the blastocyst stage.
• A cell sample is taken from the embryo using a high-precision blastocyst biopsy technique.
• The sample is analyzed using next-generation sequencing, following the pre-designed protocol.
• Embryo(s) that do not carry the disease-causing mutation are identified for transfer; embryos remain safely frozen during this process.
Who Should Consider PGT-M Testing?
PGT-M is a critical preventive option for couples with a family history of single-gene hereditary diseases such as thalassemia, cystic fibrosis, spinal muscular atrophy, or Huntington's disease; those who are known carriers of a specific genetic mutation; and families who have previously had a child affected by such a condition.
Expected Clinical Outcomes
• Determination of whether a known familial hereditary disease has been passed to the embryo, before transfer
• Confident selection of embryos that do not carry the disease
• Prevention of the hereditary disease being passed to the next generation
• Reduced need for additional invasive prenatal diagnostic testing (chorionic villus sampling, amniocentesis) during pregnancy
Why Choose Turkey for This Service?
Turkey's reproductive genetics centers offer reliable service for personalized advanced genetic testing like PGT-M, backed by experienced clinical genetics teams and international laboratory partnerships.
• A significant cost advantage compared to similar PGT-M programs in the US and Western Europe
• An experienced clinical genetics team skilled in designing protocols tailored to each family's genetic profile
• High-precision analysis infrastructure based on next-generation sequencing
• Integrated embryology, reproductive endocrinology, and genetic counseling under one roof
• Comprehensive health tourism services organized for international patients
Frequently Asked Questions (FAQ)
What preparation is needed before PGT-M testing?
A diagnostic protocol tailored to the family's genetic profile (informatics workup) must be designed in advance; this process can take several weeks and is factored into treatment planning.
Does PGT-M replace PGT-A?
No, they serve different purposes. When needed, both tests can be performed together on the same embryo sample to assess both single-gene disease status and chromosomal aneuploidy.
Which diseases can PGT-M test for?
A PGT-M protocol can be designed for many single-gene hereditary diseases, such as thalassemia, cystic fibrosis, spinal muscular atrophy, and Huntington's disease; feasibility is assessed based on the disease's genetic basis.
Do I still need prenatal testing after PGT-M?
While PGT-M substantially reduces the risk by selecting unaffected embryos, standard prenatal follow-up and screening during pregnancy are still recommended.
How long do I need to stay in Turkey for this treatment?
Protocol design can typically be carried out remotely before travel; a stay of about 2–3 weeks in Turkey is recommended for egg retrieval and biopsy.
This content is for informational purposes only; it does not diagnose, recommend treatment, or guarantee results. Be sure to consult a doctor for a personalized evaluation.