Medical Genetics - genetic examination
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Medical Genetics - genetic examination

Medical Genetics - genetic examination

The genetic examination consists of a genetic consultation with the compilation of the family tree of the client or both partners - information about siblings, parents, aunts and uncles and grandparents. We are interested mainly in congenital defects (lip and palate clefts, cardiac defects, etc.), mental retardation, serious diseases (myocardial infarctions, strokes, cancers), or causes of death in the family history. After the family tree is compiled we collect a personal medical history. It is suitable to add this information as well as medical documentation in case of prolonged therapy. The genetic consultation often includes blood collections and information about planned examinations.

Indications for genetic examination

  • Family history of hereditary diseases
  • Repeated family history of oncology diseases
  • Family history of congenital defects
  • Repeated abortions
  • Sterility of the partners
  • Examination of a child with a congenital defect or mental retardation

Indications for genetic examination during pregnancy

  • Age of a pregnant women above 35 years
  • Positive pregnancy screening
  • Suspicion of a congenital foetal defect
  • Family history of a hereditary disease
  • Birth of a child with a congenital defect in the previous pregnancy
  • Structural chromosomal defects in one of the parents
  • Pregnancy after IVF (artificial fertilization)
  • Oncology disease in one of the parents before pregnancy
  • Taking of medicines during pregnancy or effects of other teratogenic substances
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