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Clinical Genetics: Genetic Counseling, Testing, and Prevention

Clinical Genetics provides genetic counseling, testing, and preventive measures to individuals and families at risk of genetic disorders. We offer prenatal and postnatal cytogenetic testing, oncocytogenetics, and molecular-cytogenetic analysis. Our services also include primary and secondary genetic prevention through education, vaccinations, genetic counseling, contraception, adoption, and more.

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Clinical Genetics: Genetic Counseling, Testing, and Prevention

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  1. Clinical Genetics Renata Gaillyová

  2. Dept. of Medical genetics • Genetic ambulance genetic counselling • Laboratory part • Cytogenetic laboratories Prenatal cytogenetics Postnatal cytogenetics Oncocytogenetics Molecular – cytogenetics • Lab. for DNA and RNA analysis (clinical genetics and oncogenetics)

  3. Characteristic of Medical Genetics • Preventive Medicine • Interdisciplinary cooperation • Information from genetics (disease, posibilities of testing, prenatal analysis) • Voluntary choice for patients • Informed agreement

  4. Primary genetic prevention • Before pregnancy • Folic acid (cca 0,8 mg/day, 3+3 months) • Vaccination (rubella) • Genetic counselling • Contraception, family can opt for adoption or donor of gamets (oocytes, sperm) • Pregnancy planning • Rediction of environmental hazards (drugs, radiation, chemicals…)

  5. Reproduction of the optimal age In women increases the risk of accidental congenital chromosomal aberrations in the offspring In men may increase the risk of de novo mutations in some monogenic diseases (Neurofibromatosis I, Achondroplasia..)

  6. Prevention of spontaneous and induced mutations Healthy Lifestyle The restriction of harmful substances - drugs, environmental hazards

  7. Vacctination, infection prevention Prevention of rubella embryopathie Prevention of congenital toxoplasmosis Testing for infectious disease risk in mothers (CMV, varicella-zoster virus, ...)

  8. Vitamin prevention of neural tube defects, anterior abdominal wall defects, clefts Folic acid at a dose of 0.8 mg daily (twice the dose in non-pregnant) for 3-6 months prior to conception and till the end of 12. week of pregnancy

  9. Examination of acquiredchromosomal aberrations Preventive examinations of persons exposed to environmetal risksat work or persons with risk of long-term therapy (immunosuppressants, cytostatics, ....) The possibility of vitamin therapy to improve repair of DNA (3-6 months)

  10. Contraception, sterilization Contraception - temporarily prevents conception in the limited impact of risk (treatment) Sterilization - the long-term inhibition of pregnancy in a high risk of disease in the offspring (Hereditary disease)

  11. Adoption Alternative family care as an option at high genetic risk families

  12. Donation of sperm, oocytes and embryos reduction in high genetic risk reproductive problems

  13. Secondary genetic prevention • Prenatal diagnosis • Prenatal screening • Prenatal tests • Genetic counselling • Termination of pregnancy (the law in Czech Republic- end of 24. week of gestation) • Postnatal screening • Newborn screening

  14. Genetics diseases • Chromosome abnormalities • about 0,6 - 0,7% • Monogen diseases • about 0,36% (study in 1 000 000 newborns) • most then 90% of monogen diseases occur in childhood • Multifactorial (polygenic or complex) disorders • Occur in about 80% in the population

  15. Patients on genetic departements • Dead person • Adults • Pregnant women • Fetuses • Children

  16. Patients on genetic departements • Positive family history (chromosome abnormality, congenital malformations, mental retardation, diseases…) • Pregnant women with encrease risk for the fetus • Infertility – sterility, repeated fetal loss • Donors (gamets) • Patients with tumours

  17. Children • Congenital malformations

  18. Children • Suspition of mongenic hereditary diseases or inherited metabolic disorders and their families

  19. Children • Suspition on congenital chromosom aberations (children with congenital malformations, abnormal face, atipical visage, pre- or postnatal growth retardation, premature birth)

  20. Children • early or delayed puberty • Malformations of the external or internal genitalia • Low or high figure

  21. Children • Preventiv genetic examinatioun before adoption

  22. Children or adults • Mental retardation • Psychomotor retardation • Developmental delay

  23. Children and adults • Gender identity disorder

  24. Children and adults • people with long-term exposure to environmental pollutants • (alcohol, cigarettes, drugs, radiation)

  25. Children and adulds • patients with suspected hereditary cancer • patients with cancer (sporadic occurrence)

  26. Adults • Donors of gametes (preventive tests)

  27. Adults • Related partners (increased risk for hereditary disease with AR inheritance)

  28. adults • Infertility • Repeated spontaneous abortions

  29. Pregnant women • With unfavorable family history

  30. Pregnant women • with adverse pregnancy history (chronic diseases with established therapies, acute disease in early pregnancy - temperature, drugs, X-rays, CT, vaccinations, toxoplasmosis, rubella, ...)

  31. Pregnant women • Prenatal biochemical screening (Pathological results)

  32. Pregnant women • Ultrasound prenatal screening – pathological results • Congenital malformations in the fetus • Risk of chromosomal abnormality in the fetus

  33. Genetic counselling • Anamnesis • Family history • Pedigree analysis • Examination of the patient • Laboratory analysis • Other examinations - neurology, psychology, hematology, CT, MRI …

  34. Three-generation pedigree • Patient • Siblings • Children siblings • Parents • Parents siblings • Children of parents siblings • Parents parents

  35. man marriage woman divorce Unknown gender konsanguinity diseased monozyg. twins dizygot. twins carrier childless proband miscarriage dead person

  36. Pedigree

  37. Pedigree

  38. Pedigree

  39. Pedigree

  40. Pedigree

  41. Pedigree

  42. Pedigree

  43. Pedigree

  44. Clinical examination

  45. Next steps • Recommend the laboratory genetic testing • Recommend other specialists if needed • Require medical records • Make photodocumentation

  46. The result of genetic counselling • Specify exact diagnosis (if possible) • Determine genetic prognosis • Is the disease hereditary? • Type of inheritance • Genetic risks for other family members • Posibilities of treatment, prenatal analysis

  47. Patient Cell Chromosome DNA Patient

  48. Reproductive Genetics Preconceptional testing Genetic counselling and analysisin couples with reproductive disorders Prenatal diagnosis Preimplantation genetic diagnosis Examination of potential donor gametes

  49. Secondary prevention of genetic • The procedures in pregnancy - prenatal diagnosis and early postnatal diagnosis

  50. Prenatal diagnosis • Non invasive methods- screening • Screening • Invasive methods • CVS – after the 10. week of gestation • AMC – 15.-18. week of gestation • Cordocentesis – after the 20. week of gestation

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