Reproductive Genetics

Reasons for genetic consultation in the field of Reproductive Genetics.

In couples with problems getting pregnant or in couples with habitual spontaneous miscarriages, a genetic cause should be considered. In these cases, fertility treatment and in vitro fertilization (IVF, ICSI) is often performed. A genetic cause may also be responsible in cases of couples with pregnancy complications and fetal anomalies. We offer genetic consultation, testing, and diagnostics for couples with fertility problems and habitual spontaneous miscarriages, as well as fetal anomalies in prenatal diagnostics.

Genetic consultation and diagnostics in reproductive genetics usually include all of the above issues for both partners.

Please note that genetic consultation and diagnostic in reproductive genetics is usually a couple’s appointment, which means that both partners are involved.

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What is Reproductive Genetics?

Reproductive Genetics encompasses prenatal diagnostic approaches as well as preconception genetic consultation and counselling, Assisted Reproductive Technologies (ART) and preimplantation genetic diagnosis (PGD). Information about prenatal diagnosis should also be considered in almost any genetic consultation situation, as many clients are interested in learning about the chance of passing on a particular condition to their children. Therefore, it is important to be aware of the reproductive options currently available for genetic conditions.

In Reproductive Genetics, genetic tests are carried out for several main purposes: the identification of infertility causes or causes of multiple miscarriages, identification of genetic diseases transmissible to offspring, and uncovering genetic causes of abnormalities in fetal development. Another purpose is the optimisation of the assisted reproductive technology (ART).

In Reproductive Genetics, in general, we emphasise the fertility journey of couples and the medical history of both partners. For this reason, the evaluation of both members of the couple is mandatory.

A medical evaluation is indicated for example when the couple fails to achieve pregnancy after 12 months of regular, unprotected sexual intercourse, or if there have been three or more miscarriage. It is important that a diagnosis in reproductive medicine be determined by the combination of an accurate medical history and instrument- and laboratory-based evaluations, including targeted genetic tests. Confirmation of the clinical diagnosis through genetic evaluation – consultation and testing – can lead to more specific and targeted medical management.

In addition, genetic tests are also indicated for the identification of genetic diseases that are transmissible to the offspring: preconception screening allows couples who are planning to become pregnant to know their reproductive risk a priori. Genetic tests (carrier screening, preimplantation and prenatal diagnosis) have the crucial impact of monitoring the possible transmission of these genetic alterations to the offspring.

To date, the diagnostic options for couples at risk of transmitting a specific inherited disorder to their offspring are preimplantation genetic testing (PGT) and prenatal diagnosis (PND). These two diagnostic procedures share the same purpose but differ in diagnostic time, type of sampling, and laboratory procedures.

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