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The most common cause of embryo implantation failure and miscarriage in the first trimestre of pregnancy are genetic abnormalities. Genetic information is organized into chormosomes.
The term PGD – Pre-implantation genetic diagnosis is used to denote procedures where embryos are tested for the presence of a specific type of chromosomal abnormality which is known to be present in the genetic information of one or both partners of a couple.
The term PGS- Pre-implantation genetic screening is used to denote procedures that test all or some selected pairs of chormosomes in otherwise genetically healthy couples.
PGD/PGS is a laboratory method that has been developed in order to test the chromosomal information of embryos for aneuploidy (abnormal number of chromosomes) in selected chromosome pairs. The procedures aims to determine embryos with normal (regular) number of chromosomes prior to their transfer into the uterus.
PGD/PGS cannot identify all chromosomal and genetic abnormalities. It does not detect many single gene disorders and cannot rule out other congenital malformations and defects.
On the third day (72 hours) after fertilization, when the embryo already has a large number of cells, one or two cells are removed from it and PGD testing is performed on them.
This usually doesn’t affect the embryo and it will continue to grow undamaged. The obtained PGD results will show which embryos appear suitable for transfer.
PGD does not replace in any case prenatal genetic screening and testing for genetic disorders (birth defects) during pregnancy.