Genetic Testing for infertility

Genetic testing may be done in both females and males to determine whether there is a genetic defect causing infertility. These tests enable patients to examine their genetic background for recessive genes that could possibly affect future offspring or affect the patient’s ability to conceive.  Genetic causes for female infertility may include inherited chromosome abnormality or an inherited genetic disease (i.e. a single gene defect passed from parent to child).  Chromosomally abnormal embryos have a difficult time implanting in the mother’s uterus and often lead to miscarriages.  Even if the abnormal embryo does successfully implant, the conception can still result in a miscarriage.  In addition, an abnormal embryo implantation can lead to a baby with mental retardation, physical issues, or developmental problems.  There are several types of chromosome abnormalities (i.e. translocation, mutation, deletion, inversion, and aneuploidy).

Couples with specific chromosome abnormalities may be candidates for pre-implantation genetic diagnosis (PGD) in conjunction with in vitro fertilization (IVF).  PGD is the genetic testing of embryos and may be recommended by the health care provider if the patient is a known carrier for a genetic disorder (i.e. cystic fibrosis, myotonic muscular dystrophy, fragile X syndrome, etc.).  PGD may also be recommended if the patient has inherited chromosomal abnormalities associated with infertility.  Pre-implantation genetic diagnosis used in conjunction with IVF involves a biopsy of a few embryotic cells to identify and differentiate healthy embryos from genetically abnormal embryos.  This technique enables doctors to pinpoint abnormal embryos destined for disease, while allowing the transfer of only a genetically normal embryo to the uterus.  Innovative procedures such as PGD now give patients the ability to prevent certain mutations that can affect their future children. Patients with additional questions or concerns pertaining to genetic testing should consult with their health care provider.

Contact our office to schedule an appointment and to learn more about genetic testing.