Prenatal genetic diagnosis (PGD) includes genetic testing of embryos before embryo transfer and transfer of only healthy embryos.
Advantages of PGD
- Increases IVF success in selected patients
- Increases pregnancy rates
- Decreases abortion rates
- Decreases multiple pregnancy rates
- Relieves economical and psychological burden caused by recurrent unsuccessful IVF attempts
- Mothers > 36 years
- Patients with 2 or more IVF failures
- Patients with recurrent pregnancy losses
- Carriers of balanced translocations
- Patients under the risk of single gene mutation diseases that can be diagnosed such as FMF, sickle cell anemia, cystic fibrosis, spinal muscular atrophy
- To choose HLA compatible embryos
- Patients with a previous child with a genetic disorder
- Patients with an obstetric history of aneuploidy
- Patients with gonadal mosaicism
- TESE cases
- Poor responders
- For gender determination in case of a risk for X linked diseases
Which patient should undergo PGD?
How safe are embryo biopsy and PGD?
Damage to the embryo during biopsy for PGD ranges around 0.3%.
Can PGD give an incorrect result?
PGD fails to give a correct result in 2-7% of cases.
What is a single gene disorder?
Single gene disorders occur due to disfunction of a certain part of DNA called “gene”. They are especially seen in consanguineous marriages. There is a long list of single gene disorders that can be diagnosed antenatally including cystic fibrosis, hemophilia, alpha-1 antitrypsin insufficiency, sickle cell anemia, Tay Sach’s disease, retinitis pigmentosa, thalassemia, Alport’s disease, Gaucher’s disease, multiple epiphyseal dysplasia, achondroplasia, neurofibromatosis, epidermolysis bullosa, myotonic dystrophy, X-linked hydrocephalus, predisposition to cancer and Fanconi anemia.
Embriyo Üzerinde Genetik Tanı(PGT)
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