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

21 May 20252′ read5 sections

CONTENTS

WHAT IS CARRIER SCREENING?
WHICH CONDITIONS CAN BE DETECTED?
WHEN SHOULD GENETIC SCREENING BE DONE?
HOW IS THE TEST DONE?
WHY HAVE THE TEST AT OUR CENTRE?

Planning a pregnancy is not just about taking folic acid or choosing the right moment. Today, an increasingly important step in family planning is genetic screening for couples — a preventive test that can reveal whether either of the future parents is a carrier of a serious inherited disease.

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

WHAT IS CARRIER SCREENING?

These are DNA tests that detect whether a person is a carrier of an underlying genetic disease. A carrier usually has no symptoms at all; however, if both partners carry mutations in the same gene, there is a significant risk of the condition being passed on to the child.

WHICH CONDITIONS CAN BE DETECTED?

Screening may cover specific genes or be carried out using expanded panels covering hundreds of diseases. The most common diseases screened for are:

Thalassaemia
Cystic fibrosis
Metabolic disorders (e.g. phenylketonuria)
Fragile X syndrome (Fragile X)
Tay-Sachs disease (Tay–Sachs disease)
Spinal muscular atrophy (SMA)
Immunodeficiency syndromes
Genetic syndromes associated with developmental delay or intellectual disability

The list of diseases can be tailored according to ancestry, family history or findings from other tests.

WHEN SHOULD GENETIC SCREENING BE DONE?

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

Preimplantation genetic testing (PGT-M) with IVF
Egg or sperm donation, where needed
Prenatal testing by chorionic villus sampling or amniocentesis, if the pregnancy has already begun

HOW IS THE TEST DONE?

The procedure is simple and painless, as only a blood or saliva sample is needed. If one partner is found to be a carrier, the other partner is tested as well. If both are carriers of the same condition, specialist genetic counselling is provided.

WHY HAVE THE TEST AT OUR CENTRE?

At the Dr. Alexandros Traianos Centre for Reproductive Medicine & Fetal Medicine, we believe in preventive medicine and in informed choice. Genetic screening for couples is part of the initial fertility assessment and is fully integrated into your treatment plan.

📍 Contact us for a personalised assessment. A healthy start to a new life begins with prevention.

TAGSDr Alexandros Traianosreproductive medicine centreReproductive Medicineprenatal screeninginfertility

ABOUT THE DOCTOR

Dr. Alexandros Traianos

Gynecologist · Specialist in Reproductive Medicine and Fetal Medicine

He supports scientific excellence in clinical practice and recognizes the possibilities offered by modern reproductive methods to couples who wish to have a child of their own.

His profile

The content of this article is for information only and does not replace a medical examination and advice.

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Frequently Asked Questions most frequently.

Infertility is defined as the failure to achieve conception after one year (or 6 months in the case of a woman over the age of 35) of normal, regular sexual intercourse. In other words, when a year has passed without the woman becoming pregnant, the couple should consult their treating physician, so that the cause preventing pregnancy can be identified and subsequently addressed. However, we should all be aware and not forget that age is the most critical factor for female fertility, and that an individualized approach to each couple is the "golden key" that solves the problem.

Of course not. In approximately one third of cases, infertility is due to the woman (female factor), while in another third of cases it is due to the man (male factor). In the remaining third, it is due to both partners (both the man and the woman) or even to unknown factors.

• alcohol • narcotic substances • environmental toxins, including pesticides and lead • smoking • health problems • medications • radiotherapy and chemotherapy • age

In general, specialists agree that the fact that a couple has already had a child may be considered evidence that, at least initially, there is no infertility problem. It is like a small test that has been carried out and shows that they “succeeded” at least once. On the other hand, however, we should be aware that circumstances may have changed in the meantime and that a problem may have developed (e.g., the man may have had an inflammation affecting the quality of his sperm, or something may have occurred that affects female fertility: an inflammation, gynecological surgery, an abortion, etc.). In any case, therefore, if a reasonable period of time (one year) passes and a couple is unable to achieve a pregnancy, then, with the help of their doctor, they should investigate whether a problem causing infertility has arisen.

Success rates vary at each IVF center. Very important factors also include the woman’s age, her hormone levels, and, of course, her husband’s sperm. In general, rates are around 45% or slightly higher for women up to 35 years of age.

The number of treatment cycles a woman may undergo is not fixed. It is certain that in our country there are highly qualified obstetrician-gynecologists and well-organized infertility treatment centers that provide excellent medical services in this field. Provided that the appropriate indications are present (e.g., ovaries that respond to stimulation treatment, a good-quality endometrium, etc.), the success rate—particularly with the use of newer techniques and biotechnological medicines, which demonstrate increased bioactivity compared with conventional urine-derived medicines—reaches a cumulative rate of approximately 65%–70% after 4 treatment cycles.

Egg retrieval takes 10–15 minutes, is not painful, is performed under sedation, and after the procedure is completed you can return to your activities.

The association between IVF medications and the risk of developing cancer is the greatest concern for women participating in these programs. However, numerous literature references gathered from reliable scientific studies and published in reputable medical journals worldwide are reassuring and do not confirm this concern.

At Dr. Traianos' Reproductive Medicine Center, we offer egg and sperm cryopreservation services for individuals who have a personal or medical reason and require this service. We use the most advanced vitrification technique for the freezing of sperm and eggs.

WHAT IS CARRIER SCREENING?

WHICH CONDITIONS CAN BE DETECTED?

WHEN SHOULD GENETIC SCREENING BE DONE?

HOW IS THE TEST DONE?

WHY HAVE THE TEST AT OUR CENTRE?

The first step is a discussion.

Frequently Asked Questions most frequently.

When is a couple considered infertile?

Is infertility only a female problem?

What increases the risk of male infertility?

I already have one child, but I am now having difficulty becoming pregnant again. Could a problem have arisen with me or with my partner?

What is the success rate of in vitro fertilization?

How many times can a woman undergo in vitro fertilization (IVF)?

Is egg retrieval painful?

Can IVF medications cause cancer?

Can I freeze my eggs or my sperm?