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

2. KARYOTYPING genome mutations: changes in chromosome number changes in chromosome number

3. Technique Karyotyping, conventional cytogenetics

4. Down Syndrome (Trisomy 21( Trisomy 2(

5. Down Syndrome (Trisomy 21(

8. Trisomy 18, 47 Ch

9. chromosome mutations: changes in chromosome structure

10. CHANGES IN CHROMOSOME STRUCTURE  Translocations  Large Deletions/Insertions  Inversions  Duplications/Amplifications

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

12. painting" probe for chromosome 4q

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

14. 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.

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

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

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

18. PND & PGD   -Thalassemia/  -Thalassemia Haemophilia (A / B) HbD, G, E, S DMD/BMD SMA(I-III) CF; Fragile X, MD, HD, charct-Mari- Tooth

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

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

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