Preimplantation genetic diagnosis (PGD)

Preimplantation Genetic Diagnosis (PGD) was developed out of a need to provide an alternative to prenatal diagnosis for couples at risk of transmitting a genetic disease to their children.

involves the following steps:

1. Ovulation Induction and Monitoring: The woman is given drugs to produce “Super Ovulation” She normally produces many eggs, which are collected.
2. Egg retrieval: Egg retrieval is accomplished non-surgically using a vaginal ultrasound probe to guide a needle into the ovaries. The procedure does not require general anesthesia and is performed with just simple intravenous sedation. An anesthesiologist administers the sedation to maximize the woman’s comfort and safety. As a result, the experience is not painful and recovery is rapid.
3. Sperm Processing: Freshly ejaculated sperms must undergo biochemical and structural change called capacitation before they can fertilize an egg. Sperms are capacitated in the laboratory and the motile and healthy sperms are isolated prior to inseminating the eggs.
4. In Vitro Fertilization: In-vitro fertilization literally means "fertilization in glass". Follicular fluid removed from the ovaries is examined in our lab for the presence of eggs. These are isolated and placed in culture media where they are allowed to further mature. A few hours later, portions of the processed sperms are placed around each egg. Only 50 to 100 thousand sperms are needed for each egg. The eggs and sperms are left to incubate together in a carefully controlled environment. Approximately 18 to 24 hours following insemination, the eggs are inspected under the microscope to determine how many have been successfully fertilized. These embryos will be cultured in the laboratory as they continue to grow and develop until they reach Blastocyst stage.
5. Blastocyst Biopsy: As each embryo divides to about 120 cell stage, Blastocyst stage, a stage that the cells differentiated into 2 distinct kind of all group: the inner cell mass which becomes the fetal cells which the outer cell mass which are the placental cells, 5-10 cells are removed from the placental part (absolutely not the fetal part) and analyzed for genetic abnormalities. If it contains a genetic defect, then the embryo is destroyed.
6. Embryo Transfer: Typically 2 biopsied embryos which are free of abnormalities are transferred via a thin, soft plastic catheter through the cervix into the uterine cavity. They are then deposited in the upper part of the uterus and the catheter is withdrawn. This is generally a painless procedure and the patient remains in bed for 2 hours, after which she is sent home. As implantation will occur in the following two or three days, the patient is instructed to rest at home during this time after the transfer. Light normal activity is allowed without stress and most sleep well at night.
7. Post-Transfer Management: During the follow-up phase, the woman receives daily vaginal suppository of progesterone with the goal of enhancing implantation. Ten to twelve days after the embryo transfer, blood pregnancy test is performed. Rising blood levels of the pregnancy hormone, hCG, indicates that implantation has occurred. Approximately 10 days after the first hCG level, confirmation of a clinical pregnancy is made by ultrasound by demonstration of the fetal pole and fetal heart beating. The pregnancy has begun.