The eggs are harvested and fertilized with sperm Preimplantation genetic testing is a diagnostic test used in conjunction with in vitro fertilization (IVF) and is performed on embryos to assist detection of known genetic diseases or chromosomal abnormalities. When the testing is performed looking for a specific genetic disease that is known to be present in a family, the test is called Preimplantation Genetic Diagnosis (PGD). When the testing is performed looking for a number of possible genetic problems with chromosome count or structurethat might be present, it is called Preimplantation Genetic Screening (PGS). PGD and PGShave been shown to significantly decrease the risk of conceiving a child with a genetic or chromosomal abnormality.
For couples with a known genetic risk, PGD is a major medical breakthrough. This includes identified single gene disorders and genetic translocations. Examples include patients who are known carriers of Cystic Fibrosis or Sickle Cell Anemia.
PGS is now often considered for the following situations:
Studies have consistently shown that PGS does decrease the risk of miscarriage (6-10%)and does reduce the risk of facing a decision for genetic termination. Performing PGS as a part of the IVF cycle increases the treatment cost by about $5000. It is not clear if routine use of PGS in the general population is cost-effective.
For a complete description of the different types of tests of genetic tests and some basic information about genetic disorders, please refer to our web site: http://www.rscbayarea.com/pgd. The most common genetic test used at RSC is a SNP-microarray which can analyze single genes and all 24 chromosomes. The genetics reference lab that performs this test is Natera and their website is: www.natera.com.
PDG and PGS DO NOT screen for all potential genetic diseases and cannot guarantee a healthy child.
Studies are showing no increase risk of birth defects, however there are no long term outcome studies yet of children born through PGS with blastocyst biopsy and freezing.
Please note, if you are interested in having PGS testing done in your IVF cycle you must let your physician know about your decision before you start the IVF cycle in order to prepare the genetics reference lab.
Why PGD or PGS?