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Preimplantation Genetic Diagnosis screens an embryo’s quality at the chromosomal and genetic level. It can be performed for a patient at high risk of carrying an inheritable genetic disease. Using this technique, embryos that do not carry the disease can be selected for transfer.
A single cell from an 8-cell stage embryo is removed and sent off for testing. DNA analysis identifies embryos that are free of the disease, making them good candidates for transfer.
For patients with genetic diseases, selection of embryos most likely to implant and develop into a healthy child becomes extremely important. Historically, the microscopic appearance of the embryo was the only criteria available to the physician and patient for selection of “healthy” embryos for transfer. Unfortunately, there is no correlation between embryonic appearance and genetic health. Perfect-appearing embryos can carry chromosomal abnormalities and “unattractive” embryos can be genetically normal. The advent of PGD gave physicians and their patients with genetic disease an effective diagnostic tool for embryo selection before transfer. With pre-implantation genetic diagnosis to select for unaffected embryos before a pregnancy is initiated, prospective parents are able to begin a pregnancy, knowing that their baby will be unaffected by the disease that they carry.
It is well established that fertility declines with age. The miscarriage rate and chromosomal abnormalities detected in pregnancy also increase with maternal age. Over 90 percent of embryos produced by women over the age of forty carry chromosomal abnormalities. For older IVF patients, PGD can determine whether gross abnormalities in chromosome number or composition exist (aneuploidy testing). Without PGD, embryos can only be assessed by their appearance under the microscope. Unfortunately, embryos that look textbook-perfect may have genetic abnormalities, while others that appear “unattractive” may be genetically normal.
Younger women who suffer from recurrent spontaneous abortion may also benefit from PGD because genetic defects in the embryo are often the cause of recurrent pregnancy losses. The ability to detect these abnormalities and choose embryos with a normal number of chromosomes can provide new hope for a successful pregnancy and birth.
At the 8-cell stage, the embryo’s cells are genetically identical and theoretically, each cell could give rise to a complete organism. Each cell contains identical genetic information so analysis of any one of the cells provides a genetic picture of the embryo, while leaving enough intact cells for the embryo to safely continue its development. Two extra days in culture before transfer provides the opportunity to remove (biopsy) one to two cells for PGD, and express-ship the biopsied cell(s) to a specialty lab that performs the actual genetic testing. The reference lab reports the information to the patient and physician before the embryo transfer scheduled on day 5 of culture.
The Center for Reproductive Biology of Indiana has invested in its laboratory by ensuring that state-of-the-art embryo biopsy micromanipulation equipment and highly qualified staff is available to perform your embryo biopsy procedures. CRBI staff have performed other “traditional” micromanipulation techniques (ICSI and assisted hatching) since these techniques became available. Progression to embryo biopsy services is a natural extension of these capabilities. Biopsied specimens are then shipped overnight by medical couriers to Genesis Genetics. Patients can have their IVF performed here at CRBI with the doctors they know and trust, yet benefit from the genetic expertise of world-renowned experts for genetic analysis of their embryos.
Clinical indications for which PGD can be used include, but are not limited to:
• Single-gene defects (Duchenne muscular dystropy, sickle cell anemia, Tay-Sachs disease, Huntington’s chorea, cystic fibrosis. plus over 100 other genetic diseases caused by single-gene defects)
• Aneuploidy testing for advanced maternal age and recurrent pregnancy losses (duplicated or missing chromosomes
• Gender identification (XX or XY chromosome detection) is used for the purpose of identifying embryos carrying sex-linked diseases
The American Society for Reproductive Medicine (ASRM) and the Society for Assisted Reproductive Technology (SART), published a joint Practice Committee Report on Preimplantation Genetic Diagnosis in which they recommend PGD as a viable alternative to post-conception diagnosis and pregnancy termination. In their words, “PGD should be regarded as an established technique with specific and expanding applications for standard clinical practice.”
Fees for PGD include fees to CRBI for biopsy and shipping and fees to the genetics testing lab used for your case. Your actual costs will vary depending on any special services you may or may not need for your treatment. Some insurance plans may cover PGD, particularly for known single-gene defects, but this is still relatively rare. However, as the use of IVF and PGD becomes more common, pressure for insurance coverage will likely increase.
Our Reference Genetic Laboratory for PGD:
Genesis Genetics Institute: www.GenesisGenetics.org
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