Transcript Slayt 1 - zachatie.org

Preimplantation Genetic
Diagnosis and Screening
Ulun ULUĞ, M.D.
Assoc. Professor
German Hospital and Bahceci Women Health
Care Center
Istanbul, Turkey
Bahceci Women Health Care Centers
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German Hospital in Istanbul
Umut IVF Center in Istanbul
Magosa IVF Center in Northern Cyprus
Baku IVF Center in Azarbajcan
Erbil IVF Center in Northern Iraq
In 2007, 4768 IVF/ICSI cycles have been
performed
 Up to date, almost 25000 IVF/ICSI cycles
had been carried out by our centers
 The leading IVF center in Turkey
 Ranked 5th among all the IVF centers all
around the world by Organon Inc company
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We and our patients are happy to hug
their lovely over ten thousand babies in
a ten years of period.
The IVF success rate has been
limited.Unfortunately not all the IVF cycles
initiated achieve conception
Reasons; why we have not 100%
pregnancy rates ?
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The host, the woman, can have problems:
Coexisting medical diseases
Hormonal disturbances
Tendency to thrombosis
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Affects
Endometrium
Receptivity is
impaired
The parcel, embryo,
have problems
Quality is reduced
 Carries genetic problems
 Degenerates during incubation
period
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Genetic problems of embryos
In women less than 35 years old 30-40 %
of embryos have aneuploidy
 In women over 37 years old, 70% of
embryos have aneuploidy
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In humans, we have 23 sets of
chromosomes, (totally 46)
Therefore a significant proportion of
embryos generated during IVF carries
chromosomal dearrangement, which we
called as aneuploidy
Investigating of human chromosomes in
cells called as karyotyping. The whole 46
chromosomes are mapped with special
methods.
 This process needs time at least 1 week
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However during IVF, we have to transfer
embryos in a limited time such as in 5 days
 It is impossible to use standard karyotyping
process in embryos
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The most detected chromosomal
abnormalities in pregnancies ended by
spontaneous abortion
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Monosomy X (45 chromosomes)
Trisomy 16 ( 3 sets from ch 16)
Trisomy 21 ( 3 sets from ch 21, Down
syndrome)
Trisomy 13
Trisomy 18
Polyploidy (3 sets of all chromosomes)
FISH
(Floresence insitu Hybridization)
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In an overnight process several
chromosomes can be evaluated in a single
cell and dearrangements can be
accurately detected
Green light X chromosome
Red light Y chromosome
What happens if gametes carry
chromosomal problems
Oocyte (egg) can have problems
 Sperm can have problems
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Man or woman may have genetic problems
PGD enables us to select healthy
embryos from couples suffering genetic
illness (hemophilia, Duchene muscular
distrophy, thalasemmia….)
 Therefore existing genetic problem will not
be transferred to offspring and healty
children could be born
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What are the benefits of using PGD
in IVF cycles ?
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To prevent existing genetic problems
To increase pregnancy rates
Indications of PGD
Couples carrying abnormal karyotypes
a) Translocations
b) Mosaicism
c) Sex chromosome abnormalities
2. Recurrent implantation failure
3. Recurrent pregnancy losses
4. Inherited genetic syndromes
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