Pre-Implantation Genetic Diagnosis

Pre-Implantation Genetic Diagnosis is a laboratory procedure, used in conjunction with IVF, which helps to reduce the risk of passing on inherited conditions.  Some of the most common reasons for PGD are specific single gene conditions (such as cystic fibrosis or sickle cell anemia) or structural changes of a parent's chromosomes.  Families may also use PGD when a member of the family is in need of a bone marrow donor, as a way to have a child who can provide matching stem cells.

Typically, the couples in need of these techniques are NOT infertile. In fact, in most cases, there is a family history of the condition and the couple is seeking the opportunity to diminish the risk of having another child with significant health compromise or early death. Through generally available genetic screening, however, occasionally a couple who is seeking fertility treatment is found to be at risk of passing on an inherited condition, and PGD may become an option for them during the course of their care with us.

PGD is available for almost any inherited condition for which the exact mutation is known. A unique test must usually be built though for each couple who is planning to use PGD. This test design may take up to several months to complete prior to beginning an IVF cycle. PGD utilizes IVF, where multiple eggs are matured and retrieved; the oocytes are inseminated with a single sperm (ICSI) and the resulting embryos are grown in culture until the 6-8 cell stage (day 3 of embryo development). At this point, the embryo is biopsied with the removal of 1-2 cells. This process does not damage the cells remaining within the embryo. The isolated cells are evaluated for the specific genetic condition anticipated. Embryos that are determined to be unaffected are transferred back to the woman's uterus on day 5 of embryo development. 

Two main techniques are used for the genetic assessment: Polymerase Chain Reaction (PCR) and Fluorescent in Situ Hybridization (FISH). In PCR, multiple copies of the gene of interest are made by a process of amplification. This amplification process allows the identification of very small amounts of DNA in order to make the diagnosis. FISH allows the laboratory to actually count the number of chromosomes within the isolated cell. This technique is utilized primarily for expected abnormalities in chromosome number (e.g. trisomy - three copies of - 21 or Down Syndrome) or translocations (defects in the structure of the chromosome). 

At UCSF, our embryology laboratory staff has extensive experience with embryo micromanipulation and biopsy. Our genetic counselor is on staff to coordinate your cycle with the IVF team and the PGD laboratory, to make the process as smooth as possible. Our genetic counselor and physicians are available to answer your questions and discuss your specific situation.  If you are interested in genetic counseling, please contact our Genetic Counselors at (415) 514-5849.