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Genetic counseling


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First step in Prevention of Genetic Diseases

Published in: Health & Medicine, Technology

Genetic counseling

  1. 1. Genetic Counseling Prevention of Genetic Diseases Mohammad Al-Haggar, M.D. Professor of Pediatrics & Genetics Mansoura, Egypt
  2. 2. Prevention of Genetic Disease 1. 2. 3. 4. 5. 6. 7. 8. Genetic counseling Genetic counseling Genetic screening and testing (Carrier D) Premarital counseling Pre-implantation genetic diagnosis (PGD) Prenatal diagnosis and selective abortion Neonatal screening Treatment of genetic disease Family education
  3. 3. Genetic Counseling…is a communication process which deals with problems associated with the occurrence or the risk of recurrence of a birth defect or a genetic disease in a family …is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates: • • • Collection and interpretation of family and medical histories to assess the chance of disease occurrence or recurrence Education about inheritance, testing, management, prevention, resources and research Counseling to promote informed choices and adaptation to the risk or condition. Adopted from the NSGC website
  4. 4. Genetic Counseling Team Primary Care Provider Pediatrician Obstetrician Internist ENT etc. • • • • • • Maternal age ≥ 35 Consanguinity Early Infant losses Abnormal TRC Fetal anomalies Teratogen exposure
  5. 5. Role of Geneticist First  Diagnosis (Category or Definitive); pedigree construction  Final  Decision; prevent or ameliorate effects of genetic disease or birth defect 
  6. 6. First: Diagnosis • • • • • Genetic or Not  if genetic (what type). Inheritance pattern Gene(s) involved Available lab. tests Available options
  7. 7. Final: Genetic Counseling • • • Supportive… Non-Directive… Non-Judgmental…
  8. 8. Pre-implantation Genetic Diagnosis (PGD)
  9. 9. 3
  10. 10. Prevention of Genetic Disease 1. 2. 3. 4. 5. Genetic counseling Neonatal screening Carrier Detection  Mother (title of article) Pre-implantation genetic diagnosis (PGD) Education
  11. 11. Multi-D - US (11-14 week scan)
  13. 13. Chorionic Villus Sampling Performed >10 wks-12 weeks Transcervical Chromosome analysis Risk 1/100-1/200 Transabdominal
  14. 14. Fetal Blood Sampling “PUBS”
  15. 15. Carrier Testing (Mutation analysis) Lethal AR diseases • Common diseases e.g. Cystic fibrosis, Thalassemia, Sickle cell anemia, FXS, TaySachs. • IEMs  categorical diagnosis, metabolic error, enzyme deficiency, single gene defect. • Progressive neurologic deficit e.g. Neuropathy, Myopathy, Ataxia, early onset dementia.
  16. 16. THANK YOU M. Al-Haggar, MD