Couples at increased risk of transmitting a monogenic disease, such as cystic fibrosis, muscular dystrophies, or hereditary metabolic disorders.
Monogenic Disorders (PGT-M)
PGT-M is an advanced preimplantation genetic testing procedure that enables the identification of mutations associated with monogenic diseases before the embryo is transferred into the uterus. Through this method, embryos that do not carry the familial mutation can be selected, reducing the risk of transmitting the disease to the child.
What is Monogenic Disorders (PGT-M)?
PGT-M (Preimplantation Genetic Testing for Monogenic Disorders) is a genetic analysis performed within IVF treatments to detect specific mutations associated with hereditary conditions caused by a single gene. The procedure involves collecting a small number of cells from the embryo at the blastocyst stage without affecting its development.
The genetic sample is analyzed using advanced technologies such as next-generation sequencing to determine whether the embryo is affected, a carrier, or free of the familial mutation. This evaluation enables the selection of healthy embryos for transfer.
PGT-M is recommended for couples with a family history of monogenic diseases or for individuals who are identified carriers through preconception genetic testing.
Who is Monogenic Disorders (PGT-M) for?
Individuals who are carriers of a genetic mutation identified through personal or family genetic testing.
Situations in which selecting embryos without the mutation is desired to ensure a pregnancy with minimal genetic risk.
Treatment steps
Your step-by-step guide to Monogenic Disorders (PGT-M)
Every treatment is built on a well-defined medical process, carefully structured and tailored to the individual needs of each case. The objective is for the patient to receive clear information, continuous support, and the assurance that every stage is explained in detail—from the initial consultation to the subsequent monitoring period. The entire journey is guided with professionalism, ensuring that medical decisions are made with full understanding.
Although procedures vary depending on each patient’s diagnosis, treatment always begins with a thorough evaluation of the individual situation and the establishment of a personalized strategy. This approach increases the real chances of success and ensures continuity of care throughout the entire journey toward becoming a parent.
Monogenic Disorders (PGT-M)
During the first discussion, we will analyze your personal and family medical history to confirm the genetic condition you are being tested for. I will explain in detail the entire process and how PGT-M testing integrates into your fertility treatment plan.
You will begin an IVF cycle, which involves retrieving your eggs and fertilizing them in the laboratory. The resulting embryos will be cultured until they reach the blastocyst stage, the optimal moment for biopsy.
From each embryo, the embryologist will carefully collect a few cells, then send them to our specialized laboratory for targeted genetic mutation testing. Embryos remain safely frozen until the results are received.
After the testing is completed, I will review the results with you and determine which embryos do not carry the tested mutation and are suitable for transfer.
The selected healthy embryo is thawed and transferred into the uterus through a delicate procedure performed under ultrasound guidance. Any additional healthy embryos can be frozen for future use.
Approximately two weeks after the transfer, you will have a blood test to check whether implantation occurred and whether the procedure resulted in a pregnancy.
Parcursul Pacientului
Parcursul dumneavoastră către a deveni părinte, ghidat cu grijă medicală dedicată
În parcursul către obținerea unei sarcini, fiecare etapă necesită claritate, răbdare și îndrumare medicală adecvată. În practica mea, acord o atenție deosebită înțelegerii situației dumneavoastră individuale și ofer recomandări adaptate nevoilor specifice ale fiecărui pacient. Obiectivul meu este să vă sprijin cu profesionalism și empatie, astfel încât să aveți încredere în fiecare pas al procesului.
Contactați-mă
Puteți lua legătura direct cu mine pentru clarificări, informații suplimentare sau programarea unei consultații.
Programați o consultație
Stabiliți o întâlnire medicală pentru evaluarea situației dumneavoastră și discutarea opțiunilor de tratament.
Definirea planului dumneavoastră de tratament
Stabilirea unui plan terapeutic personalizat, adaptat diagnosticului și nevoilor dumneavoastră medicale.
Fiecare parcurs medical este diferit
Fiecare pacient are un traseu unic în evaluarea și tratarea infertilității. Vă sprijin cu atenție și profesionalism în fiecare etapă.
F.A.Q.
Monogenic Disorders (PGT-M) F.A.Q.
Starting a treatment or medical procedure often raises questions regarding safety, effectiveness, and its impact on fertility. This section provides general explanations to help patients better understand the working steps, what the procedure involves, and what results to expect. The information is presented in an accessible manner to facilitate a clearer understanding of the medical process.
If additional questions arise or if the individual situation requires specific clarifications, a direct discussion with the physician can offer personalized guidance and recommendations tailored to each case. Proper guidance supports informed decision-making and ensures that treatment proceeds safely.
PGT-M is designed to detect inherited disorders caused by mutations in a single gene, such as cystic fibrosis, thalassemia, Tay-Sachs disease, or Huntington’s disease. The test is used specifically for the condition that directly affects your family.
No. The biopsy is performed by experienced embryologists using advanced techniques that do not touch the part of the embryo that forms the baby. Embryos remain healthy and are kept frozen safely until the analysis is completed.
Not always. If the mutation is dominant, testing is recommended even if only one partner is a carrier. For recessive disorders, both partners usually need to carry the same mutation.
PGT-M has a very high level of accuracy when a known familial mutation is present. To correctly identify the exact genetic sequence that needs to be analyzed, a personalized genetic probe must be developed beforehand.
Yes. In many cases, we recommend performing PGT-A at the same time to confirm that the embryos are chromosomally normal and do not carry any aneuploidies. Combining the tests increases the precision of embryo selection.
Yes, it is essential. Genetic counseling clarifies the diagnosis, family history, inheritance pattern, and which gene will be tested. It helps you understand your options and make informed decisions before the procedure.
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Monogenic Disorders (PGT-M)
If you have questions related to monogenic disorders (PGT-M) or would like recommendations on evaluating and monitoring your newborn during the first days of life, you may request an individual consultation at any time. A thorough assessment helps determine the most suitable monitoring and support plan for your child.
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