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Home » PGD and PGS = healthy pregnancies and healthy babies

PGD and PGS = healthy pregnancies and healthy babies

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As reproductive science advances, fertility scientists, embryologists and doctors are constantly developing new techniques to help families have healthy pregnancies and healthy children. Recent technologies that offer promise include preimplantation genetic diagnosis (PGD) in which a day 5 embryo (blastocyst) is tested for a specific known genetic abnormality, and preimplantation genetic screening (PGS) in which a blastocyst is screened to determine if the chromosomes are normal. PGD is used to increase our ability to prevent specific, known disease, often in couples who are not infertile but carry a risk of passing on genetic disorders, while PGS is generally used in infertile patients or those with recurrent pregnancy loss to identify the most normal appearing blastocysts for transfer back into the uterus.

Both PGD and PGS involve the removal of a few cells from a blastocyst on the fifth day after egg retrieval and in vitro fertilization (IVF). Advanced mapping of these cells using sophisticated genetic platform technologies allows doctors to detect abnormalities in the chromosome structure of the embryo. If the test finds a specific gene abnormality or if there is an abnormal number of chromosomes (known as aneuploidy), then the baby will have a genetically-based abnormality later. Also, there is often associated greater risk of miscarriage and/or pregnancy complications. When the screening is done on day 5, it is usual for all the blastocysts to be frozen to wait for the test results to come back. The test results identify which are the most normal blastocysts so that they can be transferred into the uterus in the middle of the next menstrual cycle.

PGD has contributed to the reduction of debilitating genetic disorders such as cystic fibrosis, Huntington’s Disease, muscular dystrophy, and many others. PGS has enabled doctors to select the healthiest embryos prior to implantation. This can reduce the risk of miscarriage. Other uses for PGS are still being evaluated in clinical trials to identify their optimal application in infertile patients. Both PGD and PGS play an important role in healthy children and healthy pregnancies.

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