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Genetic Testing of Embryos

There are two different types of genetic testing of embryos.

It is possible to test embryos that have been created with in vitro fertilization for both chromosomal and genetic diseases. This testing is extremely accurate and goes a long way to ensuring a healthy pregnancy.

One tests for normal chromosomes; this is called Preimplantation Genetic Screening or PGS. The other tests for genetic mutations that cause a specific disease.

This testing is called Preimplantation Genetic Diagnosis or PGD.

Both PGS and PGD can be done once an embryo reaches the blastocyst stage – on the fifth, sixth, or seventh day of development. At that time, our embryologists will use a microscopic laser to drill a hole in the outer membrane that surrounds the blastocyst. They then carefully remove 3-5 of the 128 or so cells that make up the blastocyst.

These cells are then frozen and sent by courier to one of several national genetic testing laboratories. Approximately 5-7 business days later, we will receive the results that will tell us which embryo(s) is/are normal and which ones are affected by disease. We can then use this information to only transfer embryos that should be chromosomally normal, or free of a specific genetic disease – depending on which type of testing was performed. Preconceptual genetic testing can give substantial peace of mind to couples undergoing fertility treatments, those experiencing recurrent pregnancy losses, or those with a family history of a genetic disorder such as cystic fibrosis, muscular dystrophy, sickle cell anemia, or spinal muscular atrophy, among others.

We would be happy to consult with you to discuss genetic screening before conception or genetic testing of embryos. Please contact our office to learn more!