Initial Consultation
A detailed review of the family history (minimum three generations).
Preconception Genetic Testing
Building a Healthy Future at Gynatal Timișoara
Preconception genetic testing at Gynatal Clinic (Timișoara) involves advanced screenings like Carrier Screening and Karyotyping to identify hidden genetic risks before pregnancy. These tests detect recessive mutations (e.g., cystic fibrosis, SMA) that both partners may carry, as well as chromosomal rearrangements. This specialized consultation offers couples a clear, data-driven pathway for understanding genetic risks and planning for a healthy future family.
What is Preconception Genetic Screening?
Preconception genetic testing represents a set of advanced medical evaluations designed for couples planning a pregnancy. The primary goal is to identify potential genetic alterations in the parents that could be transmitted to the child, affecting their health or development. At Gynatal, this process is not merely about testing but about providing a comprehensive "Scientific Gold Standard" interpretation of your reproductive risks.
Key Components of Preconception Evaluation
Our genomic approach focuses on two main pillars to provide clinical clarity and reduce patient anxiety:
1. Carrier Screening
This test analyzes the DNA of both partners to determine if they are healthy carriers of the same recessive mutations.
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The Risk: Most carriers are perfectly healthy and unaware of their status. However, if both partners transmit the same gene mutation, there is a 25% risk that the child will be affected by a serious condition such as cystic fibrosis or spinal muscular atrophy (SMA).
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The Solution: If a compatibility risk is identified, In Vitro Fertilization (IVF) associated with PGT-M (Preimplantation Genetic Testing for Monogenic diseases) can be used to select and transfer only healthy embryos.
2. Parental Karyotyping
This analysis examines the structure and number of chromosomes in both partners. It is essential for detecting "silent" balanced chromosomal rearrangements (such as translocations). While the carrier is usually healthy, these rearrangements can lead to the production of unbalanced embryos, which are a leading cause of recurrent miscarriages and implantation failure.
Who Should Consider Preconception Testing?
Specialized evaluation is a priority for couples with:
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Advanced Maternal Age (>35): Increased risk of chromosomal abnormalities (aneuploidies) like Down syndrome.
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Recurrent Pregnancy Loss: Identifying hidden genetic factors behind previous losses.
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Previous child with a genetic disorder
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Known Family History: Hereditary conditions such as hemophilia, thalassemia, or Fragile X syndrome.
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Severe Male Factor: Low sperm counts can be linked to Y-chromosome microdeletions.
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Unexplained Infertility: Uncovering subtle genetic barriers that prevent natural conception
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Consanguinity
The Gynatal Step-by-Step Journey
We optimize for "Information Foraging" by providing a structured diagnostic roadmap
Sample Collection
A simple blood draw from both partners.
Genomic Analysis
Samples are analyzed using Next Generation Sequencing (NGS) in elite partner laboratories.
Results & Interpretation
A detailed report is generated within 3 to 4 weeks.
Personalized Roadmap
A follow-up consultation explains the results and integrates them into your personalized fertility plan.
Available preconception genetic tests:
- expanded carrier screening
- constitutional karyotyping
- fragile X testing
- Y-chromosome microdeletion analysis
- CFTR Testing
- SMA carrier screening
- Hemoglobinopathies screening
Frequently Asked Questions (FAQ)
Can we have a healthy child if we carry a genetic disease?
Yes. Through PGT-M technology, we can identify embryos that have not inherited the specific family condition and select only healthy ones for transfer.