Preimplantation Genetic Preimplantation Genetic Diagnosis and ScreeningDiagnosis and Screening

Ulun ULUĞ, M.D.Ulun ULUĞ, M.D.Assoc. ProfessorAssoc. Professor

German Hospital and Bahceci Women Health German Hospital and Bahceci Women Health Care CenterCare Center

Istanbul, TurkeyIstanbul, Turkey

Bahceci Women Health Care CentersBahceci Women Health Care Centers

1.1. German Hospital in IstanbulGerman Hospital in Istanbul

2.2. Umut IVF Center in IstanbulUmut IVF Center in Istanbul

3.3. Magosa IVF Center in Northern CyprusMagosa IVF Center in Northern Cyprus

4.4. BB aku IVF Center in Azarbajcanaku IVF Center in Azarbajcan

5.5. Erbil IVF Center in Northern IraqErbil IVF Center in Northern Iraq

In 2007, 4768 IVF/ICSI cycles have been In 2007, 4768 IVF/ICSI cycles have been performedperformed

Up to date, almost 25000 IVF/ICSI cycles Up to date, almost 25000 IVF/ICSI cycles had been carried out by our centershad been carried out by our centers

The leading IVF center in TurkeyThe leading IVF center in TurkeyRanked 5th among all the IVF centers all Ranked 5th among all the IVF centers all

around the world by Organon Inc companyaround the world by Organon Inc company

We and our patients are happy to hug We and our patients are happy to hug their lovely over ten thousand babies in their lovely over ten thousand babies in a ten years of period. a ten years of period.

The IVF success rate has been The IVF success rate has been limited.Unfortunately not all the IVF cycles limited.Unfortunately not all the IVF cycles initiated achieve conceptioninitiated achieve conception

Reasons; why we have not 100% Reasons; why we have not 100% pregnancy rates ?pregnancy rates ?

The host, the woman, can have problems:The host, the woman, can have problems:1.1. Coexisting medical diseasesCoexisting medical diseases2.2. Hormonal disturbancesHormonal disturbances3.3. Tendency to thrombosisTendency to thrombosis4.4. ……..5.5. ……..6.6. ……..

Affects EndometriumReceptivity isimpaired

The parcel, embryo,The parcel, embryo,have problemshave problems

Quality is reducedQuality is reducedCarries genetic problemsCarries genetic problemsDegenerates during incubation Degenerates during incubation

periodperiod

Genetic problems of embryosGenetic problems of embryos

In women less than 35 years old 30-40 % In women less than 35 years old 30-40 % of embryos have aneuploidyof embryos have aneuploidy

In women over 37 years old, 70% of In women over 37 years old, 70% of embryos have aneuploidyembryos have aneuploidy

In humans, we have 23 sets of In humans, we have 23 sets of chromosomes, (totally 46)chromosomes, (totally 46)

Therefore a significant proportion of Therefore a significant proportion of embryos generated during IVF carries embryos generated during IVF carries

chromosomal dearrangement, which we chromosomal dearrangement, which we called as aneuploidycalled as aneuploidy

Investigating of human chromosomes in Investigating of human chromosomes in cells called as karyotyping. The whole 46 cells called as karyotyping. The whole 46 chromosomes are mapped with special chromosomes are mapped with special methods.methods.

This process needs time at least 1 weekThis process needs time at least 1 week

However during IVF, we have to transfer However during IVF, we have to transfer embryos in a limited time such as in 5 daysembryos in a limited time such as in 5 days

It is impossible to use standard karyotyping It is impossible to use standard karyotyping process in embryos process in embryos

The most detected chromosomal The most detected chromosomal abnormalities in pregnancies ended by abnormalities in pregnancies ended by

spontaneous abortionspontaneous abortion

1.1. Monosomy X (45 chromosomes)Monosomy X (45 chromosomes)

2.2. Trisomy 16 ( 3 sets from ch 16)Trisomy 16 ( 3 sets from ch 16)

3.3. Trisomy 21 ( 3 sets from ch 21, Down Trisomy 21 ( 3 sets from ch 21, Down syndrome)syndrome)

4.4. Trisomy 13Trisomy 13

5.5. Trisomy 18Trisomy 18

6.6. Polyploidy (3 sets of all chromosomes)Polyploidy (3 sets of all chromosomes)

FISHFISH(Floresence insitu Hybridization)(Floresence insitu Hybridization)

In an overnight process several In an overnight process several chromosomes can be evaluated in a single chromosomes can be evaluated in a single cell and dearrangements can be cell and dearrangements can be accurately detectedaccurately detected

Green light X chromosomeRed light Y chromosome

What happens if gametes carry What happens if gametes carry chromosomal problemschromosomal problems

Oocyte (egg) can have problemsOocyte (egg) can have problemsSperm can have problemsSperm can have problems

Man or woman may have genetic problems

PGD enables us to select healthy PGD enables us to select healthy embryos from couples suffering genetic embryos from couples suffering genetic illness (hemophilia, Duchene muscular illness (hemophilia, Duchene muscular distrophy, thalasemmia….)distrophy, thalasemmia….)

Therefore existing genetic problem will not Therefore existing genetic problem will not be transferred to offspring and healty be transferred to offspring and healty children could be bornchildren could be born

What are the benefits of using PGD What are the benefits of using PGD in IVF cycles ?in IVF cycles ?

1.1. To prevent existing genetic problemsTo prevent existing genetic problems

2.2. To increase pregnancy ratesTo increase pregnancy rates

Indications of PGDIndications of PGD

1.1. Couples carrying abnormal karyotypesCouples carrying abnormal karyotypes

a)a) TranslocationsTranslocations

b)b) MosaicismMosaicism

c)c) Sex chromosome abnormalitiesSex chromosome abnormalities

22. Recurrent implantation failure. Recurrent implantation failure

3.3. Recurrent pregnancy lossesRecurrent pregnancy losses

4.4. Inherited genetic syndromesInherited genetic syndromes