Genetic ambulatory office

Genetics consultation – advisory services

Medical genetics deal with diagnosis, consultation on and prevention of heritable diseases. At the Centre for Foetal and Gynecological Diagnostics we focus mainly on diseases leading to congenital developmental defects and on states influencing the fertility of a couple before and during the planning of reproduction. Similarly, we focus on female tumour diseases.

Reasons for genetic examination:

  • Congenital developmental defect or disease with possible heritability in the family
  • New-born with a congenital developmental defect
  • Infertility (subfertility)
  • Repeated early loss of pregnancy - miscarriages (infertility)
  • Stillbirth in the mother’s medical history
  • Planning of pregnancy after treatment of a tumour disease
  • Frequent or repeated occurrence of tumours in the family
  • The parents are related to one another
  • Pregnancy of the mother at aged 35 or older and a father over the age of 45
  • A positive result of an incomplete prenatal screening
  • Pregnancy of a mother with a risk of repeating a heritable disease with a positive occurrence in the family
  • Pregnancy exposed to external influences – ionizing radiation (x-ray), medicines or an infectious disease

What is the process of genetic examination like?

Konzultácia s klinickým genetikom zahŕňa zisťovanie podrobností o zdravotnom stave pacienta a o chorobách príslušníkov jeho rodiny (anamnéza). Na tomto základe vytvorí najmenej trojgeneračný rodokmeň rodiny (genealógia). Zhodnotenie genealógie a anamnézy pacienta pomáha spresniť o aký typ dedičného ochorenia sa môže v rodine jednať a podľa toho je pacient doporučený k inému konziliárnemu špecializovanému vyšetreniu event. zobrazovaciemu vyšetreniu.

(USG, CT, MRI), or the patient is indicated for a targeted laboratory genetic examination, for example:

  • examination of chromosomes
  • examination of congenital genetic mutations
  • biochemical examination, etc.

Other genetic examinations:

The range of the genetic examination is based on the results of a genetic consultation. In the case of a certain disease with a genetic component in the family, we focus on examinations for a particular area of the patient’s genetic makeup. We conduct a targeted laboratory test in cooperation with domestic laboratories, or with international cooperation we send samples to specialized laboratory examinations abroad. Another set of tests examines a hidden tendency for genetically-conditioned diseases, which can be transmitted by the parent to their offspring with a certain probability.

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