PGD is a state-of-the-art procedure used in conjunction with In Vitro Fertilization (IVF) in which the embryo is tested for certain conditions prior to being placed in the womb of the woman.

1. Marwan Alhalabi MD PhD
Professor in Reproductive Medicine
Faculty of Medicine
Damascus University
&
Clinical Medical Director
Orient Hospital
Assisted Reproduction Center
Damascus, Syria.

2. • PGD is a state-of-the-art procedure used
in conjunction with In Vitro Fertilization
(IVF) in which the embryo is tested for
certain conditions prior to being placed in
the womb of the woman.
• PGD was first reported in 1990.
• PGD combines the recent advances in
molecular genetics and in assisted
reproductive technology

3. 3
World-wide, over 100,000 babies were born
thanks to PGD

4. 44
Embryo biopsy
Diagnosis
by
Transfer
1-2 unaffected
embryos
Fertilisation in vitro
(IVF or ICSI)
PCRFISH
Accurate
genetic
diagnosisAppropriate
Genetic
Counselling
DENATURING
ANNEALING
EXTENSION
PRIMER
TAQ
TAQ

12. Ovarian Stimulation IVF Blastomere Biopsy on Day 3
Genetic Analysis
Transfer of
Unaffected
Embryo
Outcome
Chromosomally Normal Baby

13. • Polar Body
• Cleavage Stage
• Blastocyst

14. Do not provide diagnosis of paternal alleles & the
gender the embryo.

17. • Polymerase Chain Reaction (PCR).
• Fluorescence In Situ Hybridization
(FISH).
• CGH 24.
• DNA Microarrays.
• NGS ( next generation sequencing ).

18. X chromosome
Y chromosome
Chromosome 21

20. • Chromosomal Disorders
• Chromosomal rearrangements
• Inversions
• Translocations
• Chromosome Deletions
• Gender determination for severe
X-linked diseases

21. • Severe monogenic diseases
(cystic fibrosis, ß thalassaemia, sickle
cell anemia, fragile X syndrome,
myopathies)
• Recurrent pregnancy loss.
• Advanced MaternalAge.
• Couples with >3 IVF failures.
• Epididymal or Testicular sperm
aspiration with >1 IVF failures.

22. • Unexplained infertility.
• Y-chromosome deletion: found in
5-20% men with low sperm count.
• Couples who have previously had a
pregnancy with a chromosomal
abnormality .
• couples where one partner carries
a balanced chromosomal
translocations.

23. AUTOSOMAL RECESSIVE
Cystic fibrosis (various mutations)
Tay Sachs disease
b-thalassaemia
Sickle cell anaemia
Rh blood typing
Spinal muscular atrophy
Adrenogenital syndrome
Congential adrenal hyperplasia
Plakophilin-1 (PKP1)
MCAD
CDG1C
Epidermolysis bullosa
Gaucher’s disease
Hyperinsulinemic hypoglycemia PHH1
Fanconii’s anemia
HLA matching
TRIPLET REPEATS
Fragile X
Myotonic dystrophy
Huntingtons
AUTOSOMAL DOMINANT
Marfans syndrome
Charcot-Marie Tooth disease (type 1A)
Crouzons syndrome
NF2
OsteogenesisimpeerfectaI and IV
Stickler syndrome
Tuberous sclerosis
Central core disease
Familial adenomatous polyposis
Li Fraumeni syndrome
Retinoblastoma
SPECIFIC DIAGNOSIS OF X-LINKED
Lesch Nyhan syndrome
Duchenne muscular dystrophy
Charcot-Marie Tooth disease
Retinitis pigmentosum
Ornithine Transcarbamylase
Haemophilia
Agammaglobulinemia
Alport syndrome
Hunter’s sndrome MPSII
Oro-facial-digital syndrome type I

24. • X-linked, agammaglobulinemia
• Spinal and bulbar muscular atrophy
• FG syndrome
• DAZ deletion
• Ataxia telangiectasia
• Familial amyloidotic polyneuropathy
• Genodermatosis (PKP1)
• Charcot-Marie-Tooth type IA
• Citrullinemia
• Holoprosencephaly (SSH gen)
• Kelley-Seegmil syndrome
• X-linked epilepsy (paternal side)
• Mitochondrial MELAS
• Pelizaeus Merzbacher
• Junctional epidermolisis bullosa
• Hyperinsulinemic hypoglycemia PHH1
• Fabry’s disease
• Bloom disease
• Anemia
• FAP-Gardner
• CF+XL mental retardation (X2)
• Oro-facial-digital syndrome type 1
• Incontinentia pigment
• RhD sensitization
• Adrenoleukodystrophy
• Osteogenesis imperfecta
• CDG1C
• Skin fragility
• Alfa-1-antitrypsin deficiency
• Hypophosphatasia
• Lesch Nyhan syndrome
• Long-chain 3-hydroxyacyl-coa
dehydrogenase deficiency
• Marfan disease
• Fragile X
• Retinoblastoma
• Gaucher disease
• Congenital adrenal hyperplasia
• Tuberosclerosis
• Stickler syndrome
• Neurofibromatosis
• Crouzon syndrome
• ZFX/ZFY
• β-thalassemia
• Sickle cell anemia
• Cystic fibrosis
• Spinal muscular atrophy
• Myotonic dystrophy
• Duchenne muscular dystrophy
• Hemophilia AB
• Epidermolizis bullosa
• Multiple epiphyseal dysplasia
• Phenylketonuria (PKU)
• Achondroplasia
• X-linked hydrocephaly
• Retinitis pigmentosa
• Huntington disease
• Hurler syndrome
• Hunter syndrome
• OCT
• Tay-Sach’s disease
• Alport disease
• Machado-Joseph disease
• Glicogen Storage disease
• Koroideremi
• X-linked autism

25. • Increased Implantation Rate.
• Reduction in Pregnancy Losses.
• Reduction in the Chance of Having
a Child with Aneuploidy.
• Reduces the possibility of having
to choose to terminate the
pregnancy following a diagnosis of
a probable genetic disorder.

26. • The birth of a(nother) child with a genetic disorder.
• Invasive diagnostic procedures including CVS and
amniocentesis.
• Possibility of an established pregnancy termination.
• Risk of miscarriage due to genetic disorders
• Risk of future fertility problems.

27. • Embryo damage
Oocyte and Embryo Biopsy are invasive
procedures
• Misdiagnosis The accuracy of the PGD for
translocation is 90%.
• False negative result
• False positive result
• The chance for NO result
• The chance for mosaicism
• IVF Risks

28. The use of special precautions to avoid exogenous DNA
contamination has dramatically reduced the main causes of
misdiagnosis.

29. • Not Achieving Pregnancy
• There may not be any normal
embryos available for transfer.
• The embryos may not implant
and develop even if they do
not have the defect.
• The workup for PGD is
expensive and labor intensive.

30. • PGD can only detect a
specific genetic disease in an
embryo. It cannot detect
many genetic disorders at a
time and cannot guarantee
that the fetus will not have
an unrelated birth defect.

31. Future of PGD
• Efforts continue to be
focused on improving
methods to obtain an
accurate diagnosis.
• PGD holds great promise
for the future as
techniques and genetic
tests are perfected.
• PGD may become routine
in the next few years.

32. With the advent of the microarray techniques for the analysis
of the genome, transcripts of thousands of genes can be tested
at one time, and the combination of both might dramatically
change our future

33. • PGD is a reliable procedure in
preventing the birth of affected
children .
• PGD of aneuploidy is effective
and results in a high take home
baby rate when implemented in
certain categories of patients.
• Despite the efficiency of the PGD
technique, conventional prenatal
diagnosis is still required by most
PGD laboratories

34. PGD for aneuploidy is a valuable and
effective tool for increasing ART
outcome and decreasing the rate of
abortion in cases of advanced maternal
age and severe male infertility

35. The development of PGD is one of the most
exciting and important milestones in the history
of Assisted Reproductive Technology
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