Preimplantation genetic diagnosis (PGD) is a screening test used to determine if genetic or chromosomal disorders are present in embryos produced through in vitro fertilization (IVF). PGD tests embryos before they are transferred to the uterus, so patient can make informed decisions selecting embryos unaffected by the genetic or chromosomal disorder for transfer.

Preimplantation genetic diagnosis may be recommended to patient when:

  • One or both partners has a history of heritable genetic disorders
  • One or both partners is a carrier of a chromosomal abnormality
  • The mother is of advanced maternal age
  • The mother has a history of recurrent miscarriages

PGD can be used to determine if embryos produced through in vitro fertilization carry a gene mutation associated with a specific genetic disorder, such as cystic fibrosis or muscular dystrophy. PGD is also offered to couples when one partner has a chromosomal abnormality, such as an unbalanced translocation. If the abnormality is present in the embryo, the condition could ultimately prevent embryo implantation, lead to pregnancy loss, or result in the birth of a child with congenital malformations or mental retardation.

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