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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

PND & PGD

Prenatal Diagnosis

Preimplantation Diagnosis

Dr. Derakhshandeh, PhD


Karyotyping
KARYOTYPING

genome mutations:

changes in chromosome number


Technique
Technique

Karyotyping, conventional cytogenetics


Down Syndrome (Trisomy 21(

Trisomy 2(


Down Syndrome (Trisomy 21(




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




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
Interphase FISH Examples

18 (aqua), X (green), and Y (red).

13 (green), and 21 (red)


Female fetus with trisomy 21
female fetus with trisomy-21

  • chromosomes 18 (aqua), X (green), and Y (red).

  • chromosomes 13 (green), and 21 (red)


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


Pnd pgd
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


PGD

  • Translocation

  • Inversion

  • Deletion

    • At least 2 independent blastromers/embryo


A limiting factor in pgd
A limiting Factor in PGD

  • Chromosome abnormalities

  • # 70-100 %

  • Reduce the success of PGD


Rules and legislation of pgd
Rules and legislation of PGD

  • HLA typing

    • A child as suitable donor to an already existing child

  • Social sexing


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