In Vitro Fertilization (IVF): Micromanipulation
PGD: Preimplantation Genetic Diagnosis / Embryo Biopsy
What is Preimplantation Genetic Diagnosis (PGD)?
Preimplantation genetic diagnosis is a technique in which embryo biopsy is used to evaluate the genetic material of the embryos created through in vitro fertilization (IVF). 
Cells are removed from each developing embryo for genetic analysis. We offer PGD for single gene defects (Cystic Fibrosis, Spinal Muscular Atrophy, Sickle Cell, Huntington’s) or for genetic markers of cancer such as BRCA1/BRCA2. These are situations where we test for the presence of a specific genetic mutation in each embryo. Using PGD, we can identify the embryos free of genetic mutations to avoid the possibility of having a child that will carry the mutation or have a genetic disease. For PGD, the couple with the genetic defect will need to provide blood for genetic analysis, in order to know what to look for in the embryos.
The biopsy results will take several days, and therefore all of the embryos must be frozen after the biopsy. Once we know which embryos are normal, they can be thawed for use at a later date.
What is Preimplantation Genetic Screening (PGS)?
Preimplantation genetic screening is a technique in which embryo biopsy is used to evaluate the genetic material of the embryos created through in vitro fertilization (IVF). Instead of testing for a specific genetic mutation (PGD), the genetic analysis is performed to look for an abnormal number of chromosomes (aneuploidy) or for a chromosomal translocation, both of which may cause miscarriages.
A normal embryo must have 46 chromosomes in the right combination to enable normal viability - 23 from the mother and 23 from the father. If the early dividing cells do not divide equally and distribute these chromosomes equally and in the right way, then aneuploidy is the result. Aneuploid embryos are very common, and are the most common cause of miscarriages and failure to conceive through IVF. This occurs more often in older women, and is the most significant reason why fertility declines with increasing age. This also explains why chromosomal and congenital anomalies, such as Down Syndrome, also increase with increasing age of the female partner.
Traditionally, embryos produced by IVF are assessed microscopically to predict their viability; as suggested by their overall appearance. PGS goes a step further, by actually screening the genetic information contained within the embryo prior to embryo transfer. Embryos free of aneuploidy can be selected and transferred back to the patient. This increases the chance of pregnancy and reduces the risk of miscarriage.
For PGS, embryo biopsy is done on a day 5 embryo, then immediately shipped to a lab for genetic analysis. Comparative Genomic Hybridization (CGH) is performed overnight to search for aneuploidy or translocation. On day 6, a fresh embryo transfer is performed using the normal embryos. If any non-biopsied embryos mature on day 6, they are then biopsied and frozen for the possibility of a future transfer.
PGD/PGS Process at Carolina Conceptions
Preimplantation Genetic Diagnosis continues to evolve, with optimized outcomes at Carolina Conceptions. Through Sept 2011 we have performed over 75 cases of embryo biopsy. In late 2011, Carolina Conceptions began doing only day 5 and day 6 embryo biopsy (blastocyst biopsy), as compared to day 3. This increases the accuracy of PGD/PGS by being able to analyze multiple cells from each embryo, instead of only one cell from a day 3 embryo. This has also been associated with improved pregnancy rates due to the fact that the embryos are more developed and less likely to be injured from the biopsy. Carolina Conceptions is proud to be one of the first centers in the country to offer this service. PGD and PGS does add some additional cost to the IVF process and we suggest you speak with our financial coordinators to get details.
Resources:
Preventing Genetic Disease through Embryo Biopsy