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Center for Reproductive and Fetal Medicine

GENETIC TESTING OF COUPLES: WHICH DISEASES CAN BE DETECTED BEFORE PREGNANCY

GENETIC TESTING OF COUPLES: WHICH DISEASES CAN BE DETECTED BEFORE PREGNANCY

Planning a pregnancy is not just about taking folic acid or choosing the right time. Nowadays, an increasingly important step in family planning is genetic testing of couples – a preventive examination that can reveal whether any of the future parents are carriers of serious hereditary diseases.

At Center for Reproductive Medicine & Embryology Dr. Alexandros Traianos, we place particular emphasis on prevention and a responsible approach to parenthood. Genetic testing is a key tool for making informed decisions, even before pregnancy begins.

WHAT IS GENETIC CARRIER TESTING?

These are DNA tests that detect whether a person is carrier an underlying genetic disease. Usually, the carrier does not show any symptoms, however if both partners carry mutations in the same gene, then there is a significant risk of passing the disease on to the child.

WHAT DISEASES CAN BE DETECTED?

The audit may include: specific genes or be done through extended panels with hundreds of diseases. The most common diseases that are checked are:

  • Mediterranean anemia
  • Cystic fibrosis
  • Metabolic diseases (e.g. phenylketonuria)
  • Fragile X Syndrome
  • Tay–Sachs disease
  • Spinal muscular atrophy (SMA)
  • Immunodeficiency syndromes
  • Genetic syndromes associated with developmental delay or mental retardation

 

The list of diseases can be adjusted based on the origin, the family history or the findings from other tests.

WHEN SHOULD GENETIC TESTING BE DONE?

The ideal time is before pregnancy, so that if an increased risk is identified, alternatives are available:

  • Preimplantation genetic testing (PGT-M) in vitro fertilization
  • Egg or sperm donation, when required
  • Prenatal testing with chorionic villus sampling or amniocentesis, if the pregnancy has already begun

 

HOW IS THE EXAM CONDUCTED?

The process is simple and painless, as only blood or saliva sampleIf it is determined that one of the partners is a carrier, the other is also tested. If both are carriers of the same condition, specialized genetic counseling is provided.

WHY GET YOUR CHECKUP AT OUR CENTER?

At Center for Reproductive Medicine & Embryology Dr. Alexandros Traianos, we believe in preventive medicine and informed choice. Genetic testing for couples is part of the initial fertility check-up and is fully integrated into your treatment plan.

📍 Contact us for a personalized assessment. The healthy start to a new life starts with prevention.

Center for Reproductive and Fetal Medicine

Effective doctor-patient communication is vital to providing high-quality health care. Any communication regarding your medical profile (getting results, instructions, answering questions, concerns) will be done directly with the doctor. This means no midwife or secretary will interrupt your conversations. Instead, if you call with any concerns, they will be there right away to address your needs. Contact us by calling 694 649 8771 or by completing the relevant Contact Form.

Dr. Alexandros Traianos

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Call (+30) 2310 277 032 or visit the Frequently Asked Questions

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FREQUENT QUESTIONS

The association of IVF drugs with cancer risk is a major concern for women enrolled in these programs. But the plethora of bibliographic reports collected from credible scientific studies and published in reputable medical journals worldwide are reassuring and do not confirm this concern.

Of course not. In about a third of cases, infertility is due to the woman (female factor), while in a third of cases, it is due to the man (male factor). The remaining one-third is due to both (both men and women) or even to unknown factors.

The quantity and quality of a man's sperm can be affected by his health and lifestyle. Some factors that can reduce the quantity and / or quality of sperm are:

  • the alcohol
  • drugs
  • environmental toxins, including pesticides and lead
  • smoking
  • health problems
  • medicines
  • radiotherapy and chemotherapy
  • the age

Success rates vary at each IVF Center. Very important factors are also the age of the woman, the levels of her hormones and of course the sperm of the husband. Rates generally range from 45% or slightly higher for women up to 35 years old.

Infertility is defined as the failure to conceive after one year (or 6 months, if it is a woman over 35) with normal, regular sexual intercourse. In other words, when a year passes without the woman becoming pregnant, the couple should consult their doctor to determine the cause of the pregnancy and then treat it. We must all, however, be aware and not forget that the age factor is the most critical for female fertility and that the individualized approach of each couple is the "golden key" that solves the problem.

The number of treatment cycles a woman can undergo is not specified. It is certain that in our country there are high level obstetricians-gynecologists and organized infertility treatment centers, which offer impeccable medical services at this level. If there are correct indications (eg ovaries that respond to stimulation therapy, good quality endometrium, etc.) the success rate -especially with the use of newer techniques and biotechnological drugs, which show increased bioactivity compared to conventional drugs from urine- totals approximately 65%-70% after 4 cycles of treatment.

At the Center for Reproductive Medicine of Dr. Traianos we offer egg / sperm cryopreservation services for those who have a personal or medical reason and need this service. We use the most modern vitrification technique in the freezing of sperm and eggs.

The collection of eggs takes 10-15 minutes, it is not painful, it is done under intoxication and after the end of the process you return to your activities.

In general, experts agree that the fact that a couple has already had a child can be considered proof that there is no infertility problem in the first place. It is like a small test that has been done and proves that they "made it" at least once. On the other hand, however, we must be aware that things may have changed in the meantime and a problem may have arisen (e.g. the man may have suffered some inflammation, which affects the quality of his sperm or something has intervened that affects female fertility: an inflammation, a gynecological surgery, an abortion, etc.).

In any case, if a reasonable period of time (one year) passes and a couple is unable to achieve pregnancy, then they should, with the help of their doctor, investigate whether there has been a problem causing infertility.