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PGS is a highly specialized and delicate procedure, which involves removing a single cell from a 3-day-old embryo and testing it for the presence of specific genetic abnormalities. This procedure may be helpful in many situations, including cases of recurrent miscarriage, cases of unexplained repetitive IVF failure, and cases of advanced maternal age, among others. The most common indications for PGS remain situations in which one member of a couple has a known genetic abnormality or situations in which a couple has had a previous chromosomally abnormal pregnancy. There are two basic types of PGS testing; testing for aneuploidy and testing for single gene defects. Aneuploidy is the clinical situation in which there are extra or missing chromosomes. An example would be Down’s Syndrome, in which there is an extra copy of chromosome 21. Single gene defects, such as sickle cell anemia, are conditions in which – although the total chromosome number is correct – a small piece of a very important gene is abnormal. PGS permits the selection and subsequent transfer of embryos, which are less likely to have chromosomal abnormalities or which are free of a known single gene disorder, thereby increasing the chances for a successful pregnancy and a healthy baby.
We work with several different PGS laboratories across the United States, and will send your information to the program best equipped to evaluate the particular abnormality in question. If PGS is part of your treatment, our embryologists will perform the embryo biopsy and fix the cells on a microscope slide. These slides will then be sent via special courier to a specific reference laboratory for the chromosomal evaluation. The embryo-specific results will then be communicated back to our embryologists in time to select the appropriate embryos and still perform your embryo transfer on Day 5.