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PGD-PGS Analysis

PGD-PGS Analysis

What is PGD?

Preimplantation Genetic Diagnosis is the process of genetic testing of embryos during the in vitro fertilization procedure and selecting only healthy ones and transferring them to the mother.

Yields of PGD

  1. Increases the chance of success of IVF application.
  2. Increases the clinical pregnancy rate.
  3. It reduces the risk of miscarriage.
  4. Reduces the need for medical termination of pregnancy.
  5. It decreases the multiple pregnancy rate.
  6. Reduces the financial burden and psychological pressure of repetitive unsuccessful IVF trials.

How is PGD tested?

If you have a condition that requires a PGD test, your doctor will recommend it.

Selecting healthy embryos requires a series of procedures:

Your embryos are biopsied on day 3 (one or two cells are removed from each embryo). This process does not harm your embryos.

Genetic test results of your embryos can be obtained within 6-12 hours. In special cases (such as re-hybridization or application of molecular testing methods), this period may be extended.

Embryos found to be healthy are reported for transfer to the expectant mother.

Transferring embryos that are healthy and do not carry the disease sought initiates a healthy pregnancy.

Reliability of Embryonic Biopsy and PGD

In order to make a preimplantation genetic diagnosis, it is necessary to take cell samples from each of the embryos of the patient. The possibility of damage to embryos during PGT application is negligible (damage rate was determined as 0.3%). Although it depends on the method used, it is predicted that the probability of the PGD test to give an incorrect result varies between 2-7%.

Who is requried PGD?

  1. For mothers aged 36 years and over
  2. Couples who have not had pregnancy despite two or more IVFs
  3. Couples with recurrent early pregnancy losses (miscarriages) (due to non-translocation carriage)
  4. The balanced translocation carrier to pairs
  5. Familial Mediterranean anemia, sickle cell anemia, cystic fibrosis, SMA, such as possible to diagnose spouses in terms of some single gene disease
  6. Selection of HLA-compatible embryo with family members
  7. From previous pregnancies to couples who have a child with a genetic disease
  8. Pregnant women with aneuploidy (with chromosomal disorders)
  9. Gonadal mosaism (two or more of the same abnormalities despite the birth product of spouses' genetic test results are normal) cases
  10. TESE cases (cases with severe male infertility)
  11. Poor responder’s (inadequate response to hyperstimulation protocol)
  12. Embryonal sex determination for diseases that show the transition to chromosome X. If direct genetic diagnosis of the disease is not possible.

PGD in Single Gene Diseases

Single gene diseases are the genetic diseases that occur as a result of the disruption of the functions of the units we call encoded genes on our DNA. It is well known that such genetic diseases increase if spouses are related. Preimplantation genetic diagnosis of single gene diseases is based on DNA analysis of single cells. Cystic fibrosis, Alpha L-1 antitrypsin insufficiency, Retinitis pigmentosa, Hemophilia A1 and B, Thalassemias, Alport, Gaucher's, Thai sach's and Sickle cell anemia, Long chain acyl-CoA dehydrogenase deficiency, Multiple epiphyseal displasia, Achondroplasia, Neurofibromatosis, Epidermolysis, Epidermolysis Preimplantation genetic diagnoses of a long list of diseases such as myotonic dystrophy, X-linked hydrocephalus, cancer predisposition and Fanconi anemia have been made. Pentagene Genetics can provide v Preimplantation Genetic Diagnosis ”service to spouses who are at risk for such genetic diseases, in which healthy embryos are selected during in vitro fertilization. Such diseases include; Familial Mediterranean Anemia (Thalassemia major), HLA tissue compatibility tests, Sickle Cell Anemia, Spinal Muscular Atrophy (SMA), Congenital Deafness, etc.