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PGD, pre-implantation genetic diagnosis, is referred to genetic profiling of embryos prior transferring the embryo to the uterus. PGD involves removing a cell from an IVF embryo to test it for a specific genetic condition before an implantation.

PGD for single gene defects to prevent transmission of genetic disease

Pre-implantation genetic diagnosis is a technique that is used along with in vitro fertilization, IVF and allows testing of embryos for certain characteristics such as a specific testing for genetic diseases that are passed on through families. Single gene PGD testing is available for couples who know they are at risk for having a child with a specific genetic disorder. Embryos are tested for the specific gene mutations that you and/or your partner carry. Unaffected embryos are then chosen for transfer.

PGS, pre-implantation genetic screening, is the proper term for testing for overall chromosomal normality/abnormality in embryos. PGS is not looking for a specific disease diagnosis - it is screening the embryo for normal chromosome numbers, including common chromosomal abnormalities such as 13, 18, 21 and sex chromosomes.


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