Preimplantation genetic diagnosis is a technique that combines reproductive technology with advances in molecular genetics. Physicians can identify the presence of genetic abnormalities in an embryo prior to the establishment of pregnancy. However, it is essential that the parents use in vitro fertilization if they wish to have this procedure carried out on their embryo.
Preimplantation Genetic Diagnosis
Preimplantation genetic diagnosis (PGD) is primarily used by couples who are at a high risk of producing children with serious genetic problems or by people who are advised not to procreate because of this risk. If such couples opt for amniocentesis after the establishment of pregnancy and find that the embryo has a genetic abnormality, they are faced with a difficult choice of either terminating the pregnancy or continuing with the ongoing pregnancy.
Candidates for Preimplantation Genetic Diagnosis
Couples with a family history of X-linked genetic disorders are at risk, because they can transmit the disease to half the male embryos or to 25 percent of the total embryos that are produced by them. Couples who have a history of failed in vitro fertilization or recurrent miscarriages are also candidates for PGD. Parents who already have a child with a mental or physical disability should also be considered as candidates for PGD. Women who are over the age of 35 and have conceived are at risk of producing children with chromosomal mutations. These women should opt for PGD. Men who suffer from male factor infertility could also have their sperm checked by this procedure. Couples who are carriers of autosomal recessive diseases such as albinism, sickle cell anemia and cystic fibrosis, and those who are carriers of autosomal dominant diseases such as Huntington’s disease and retinoblastoma, should opt for PGD.
PGD is a procedure that is complex, expensive and difficult to perform, and one that requires special skills and expertise. Hence, it's available at very few centers.
