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

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Presentation transcript:

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

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

Technique Karyotyping, conventional cytogenetics

Down Syndrome (Trisomy 21( Trisomy 2(

Down Syndrome (Trisomy 21(

Trisomy 18, 47 Ch

chromosome mutations: changes in chromosome structure

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

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

painting" probe for chromosome 4q

A probe for the terminal part of chromosome 4q.

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.

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

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)

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

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

PGD Translocation Inversion Deletion At least 2 independent blastromers/embryo

A limiting Factor in PGD Chromosome abnormalities # % Reduce the success of PGD

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