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People with Known Genetic Diseases

family planning for people with known genetic diseases


enetics, or the study of genes and heredity in living organisms, has profoundly changed the way that we look at ourselves. We now have the ability to use our knowledge of genetics to improve the lives of our future offspring.

In the past few years, technological advancements have made it possible to screen for a variety of gene mutations that can carry diseases. Preimplantation Genetic Testing for Monogenic/Single Gene Defects (PGT-M), previously known as preimplantation genetic diagnosis (PGD), provides you with the opportunity to screen your embryos for disease if you or members of your family know this disease to be present. We use PGT-M in conjunction with in vitro fertilization (IVF): Once fertilization occurs and embryos develop over the next 5 to 6 days to the blastocyst stage, the embryologists in our IVF laboratory biopsy a group of cells from each embryo. The biopsied cells are analyzed in a genetic testing laboratory to determine if they are affected with the genetic disorder that you are known to carry. The blastocysts are cryopreserved until the results of the analysis are available from the laboratory. The embryos that are normal—not affected by the genetic disorder they were screened for—can then be thawed and transferred to the uterus in a subsequent frozen embryo transfer cycle.

This technique provides you with peace of mind, knowing that you are not passing on these genetic disorders to your future offspring.

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