PGT-M (Monogenic)
Targets specific single-gene disorders known in the family.
Hereditary Diseases and Fertility
Expert Genetic Care in Timișoara
Hereditary diseases are genetic conditions passed from parents to children, often impacting reproductive health and pregnancy outcomes. At Gynatal Clinic (Timișoara), we combine advanced genetic counseling with state-of-the-art Preimplantation Genetic Testing (PGT-M/PGT-SR) Our goal is reduce the risk of transmitting specific inherited conditions and support informed reproductive decisions through personalized genetic care.
Understanding Hereditary Diseases in Fertility Care
Hereditary diseases occur when changes in the DNA sequence (mutations) are passed through generations. While a person carrying a genetic condition may not be infertile, assisted reproduction is often recommended to reduce the risk of transmitting serious diseases.
Common Hereditary Conditions We Manage
Our genetic specialistsevaluate a wide range of monogenic and chromosomal disorders:
- Cystic Fibrosis and Spinal Muscular Atrophy (SMA): Common recessive conditions.
- Thalassemia and Sickle Cell Anemia: Blood-related genetic disorders.
- Fragile X Syndrome: A leading cause of inherited intellectual disability and premature ovarian insufficiency.
- Hemophilia and Muscular Dystrophy: X-linked conditions.
- Huntington’s Disease: An autosomal dominant neurological condition.
- Balaced chromosomal rearrangements: including reciprocal and Robertsonian translocations associated with recurrent miscarriage or infertility
- Other monogenic disorgers
The Gynatal Genetic Diagnostic Pathway
We optimize for "Cognitive Satisfaction" by providing a structured, step-by-step roadmap for high-risk couples:
- Specialized Genetic Counseling
The journey begins with an in-depth review of your medical and family history (pedigree analysis). - Carrier Screening (Testarea Compatibilității Genetice)
A proactive blood test for both partners to check for shared recessive mutations. Even if you are healthy, if both partners carry the same mutation, there is a 25% risk that the child will be affected. - Parental Karyotyping
Analyzing the structure and number of chromosomes in the parents to identify balanced rearrangements (translocations) that may lead to recurrent miscarriages.
IVF with PGT: Science Safeguarding Your Future
For couples with a confirmed genetic risk, In Vitro Fertilization (IVF) combined with Preimplantation Genetic Testing (PGT) is the scientific gold standard.
PGT-SR (Structural Rearrangements)
Used when a parent carries a balanced translocation to avoid embryos with structural imbalances.
ni-PGT-A (Non-Invasive)
No embryo biopsy is required, as analysis is performer usig cell-free DNA from the culture medium.
Success Rates and Safety
By transferring only euploid embryos (genetically healthy), we achieve:
Increased Implantation Rates
Often exceeding 60-70%
Reduced Miscarriage Risk: Most early losses are caused by chromosomal errors.
Shortened Time to Pregnancy: Avoiding unsuccessful transfers of non-viable embryos.
Frequently Asked Questions (FAQ)
Do hereditary diseases always cause infertility?
No. Many carriers can conceive naturally. However, IVF is recommended when embryo testing is needed to prevent the transmission of a serious condition.