What is Preimplantation genetic testing (PGD)?

What is Preimplantation genetic testing (PGD)?

Pre-implantation genetic testing; in the presence of a known genetic abnormality or carrier in one or both of the genetic parents; Genetic testing of embryos to determine whether embryos are at risk for genetic disease. Preimplantation genetic testing (PGD) includes all kinds of genetic tests performed in embryos.

A (Aneuploidy) (PGS / CCS): These are techniques that are screened for the detection of numerical chromosomal disorders (aneuploidy) of embryos of chromosomally normal genetic parents. Preimplantation genetic screening has been described as preimplantation genetic diagnosis-aneuploidy (PGT-A) in recent years in order to eliminate term confusion.

PGT-M (monogenic): Preimplantation genetic diagnosis for single gene diseases such as Mendelian / monogenic diseases, Cystic fibrosis, BRCA, Huntington’s Disease

PGT-SR (structural rearrangement): Chromosome translocations, inversions such as chromosome structure rearrangement.

Preimplantation genetic testing (PGT) How?

After successful and experienced in vitro fertilization laboratory, embryo fertilization is followed in the culture system for 3 days until it reaches the 8-10 cell stage. One or two cells are taken from blastomeres of these 3-day-old embryos. Chromosome analysis is performed on these cells. 13,16,18,21,22, X and Y chromosomes are commonly used.

Preimplantation genetic testing (PGT) Advantages


• Choosing the best healthy embryo to be transferred contributes to the success rate of pregnancy.

• Pregnancy with healthy embryos transferred after PGD is less risk of miscarriage.

• Allows decision of embryo to be frozen or screened

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