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Dr. Derakhshandeh, PhD

PND & PGD Prenatal Diagnosis Preimplantation Diagnosis. Dr. Derakhshandeh, PhD. KARYOTYPING. genome mutations: changes in chromosome number. Technique. Karyotyping, conventional cytogenetics. Down Syndrome (Trisomy 21 (. Trisomy 2 (. Down Syndrome (Trisomy 21 (. Trisomy 18, 47 Ch.

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Dr. Derakhshandeh, PhD

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  1. PND & PGD Prenatal Diagnosis Preimplantation Diagnosis Dr. Derakhshandeh, PhD

  2. KARYOTYPING genome mutations: changes in chromosome number

  3. Technique Karyotyping, conventional cytogenetics

  4. Down Syndrome (Trisomy 21( Trisomy 2(

  5. Down Syndrome (Trisomy 21(

  6. Trisomy 18, 47 Ch

  7. chromosome mutations: changes in chromosome structure

  8. CHANGES IN CHROMOSOME STRUCTURE • Translocations • Large Deletions/Insertions • Inversions • Duplications/Amplifications

  9. DiGeorge/Velo-Cardio-Facial/CATCH 22/Shprintzen Syndrome which is caused by a microdeletion on chromosome 22

  10. painting" probe for chromosome 4q

  11. A probe for the terminal part of chromosome 4q.

  12. probe for Steroid Sulfatase Deficiency which is caused by a microdeletion on the X chromosome. The "Xp22.3" probe signal is located at the Steroid Sulfatase region at Xp22.3. Since there are two X chromosomes and only one has the Steroid Sulfatase gene signal.

  13. Interphase FISH Examples 18 (aqua), X (green), and Y (red). 13 (green), and 21 (red)

  14. female fetus with trisomy-21 • chromosomes 18 (aqua), X (green), and Y (red). • chromosomes 13 (green), and 21 (red)

  15. Detection of trisomy 21 by HGQ-PCRLanes 1–16 Serial dilutions for a normal individual and aDown’s syndrome patient HGQPCR (quantitative fluorescece)

  16. PND & PGD .b-Thalassemia/ a-Thalassemia • Haemophilia (A / B) • HbD, G, E, S • DMD/BMD • SMA(I-III) • CF; Fragile X, MD, HD, charct-Mari-Tooth

  17. PGD • Translocation • Inversion • Deletion • At least 2 independent blastromers/embryo

  18. A limiting Factor in PGD • Chromosome abnormalities • # 70-100 % • Reduce the success of PGD

  19. Rules and legislation of PGD • HLA typing • A child as suitable donor to an already existing child • Social sexing • …

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