In Vitro Fertilization (IVF)
In Vitro Fertilization (IVF) involves harvesting eggs, inseminating them with sperm, and implanting the resulting embryo(s) into the woman's uterus to achieve pregnancy. Women undergoing IVF receive daily injections of follicle stimulating hormone (FSH), which causes the ovaries to recruit additional follicles. Patients may also be administered drugs to prevent ovulation too soon, before retrieval of the egg. They are monitored several times and medications adjusted as necessary to prevent serious side effects. When the follicles are mature, human chorionic gonadotrophin (hCG) is injected and the patient is scheduled for transvaginal, ultrasound-guided egg retrieval under conscious sedation anesthesia. This is an outpatient procedure using a small needle and that is accompanied by minor discomfort. The retrieved eggs are prepared as is fresh semen from the partner. The semen is introduced into culture dishes containing the eggs. Patients scheduled for intracytoplasmic sperm injection, will have each egg injected with a single sperm. The fertilized eggs are put in incubators for about three days until the embryologist and physician judge that they are mature. Once the embryos mature, the patient will be scheduled for embryo transfer. Procedures such as assisted hatching or pre-implantation genetic diagnosis (PGD) may be performed prior to embryo insertion. Insertion is directly into the uterus using a small catheter.
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- Preimplantation Genetic Diagnosis
Preimplantation Genetic Diagnosis
Some couples are at increased risk for transmitting genetic diseases to their children. The disorders include hemophilia, Tay-Sach's disease, Sickle Cell Anemia, Cystic Fibrosis, Down's syndrome, and others.
Women over the age of 38 or those with recurrent miscarriage may be at risk for chromosomal abnormalities called aneuploidies. Preimplantation Genetic Diagnosis (PGD) allows the embryologist to screen embryos for these and many other genetic abnormalities.
PGD patients undergo in vitro fertilization to create embryos that will be transferred to the uterus. Once the embryos mature, the embryologist makes a small hole in the embryo's outer membrane using a laser. A single cell is withdrawn for the PGD procedure(s) without damage to the embryo. Each cell contains the complete genetic makeup of the embryo.
The cell is examined for an abnormal number of chromosomes, using fluorescent in situ hybridization (FISH). FISH, enables the embryologist to count chromosomes and often identify other abnormalities.
The polymerase chain reaction (PCR) is used when damage, or disease, is suspected on a particular chromosome segment. The PCR duplicates and amplifies certain chromosome sections so that disorders can be seen.
Some diseases, such as hemophilia, are sex-linked meaning they are transmitted on the X chromosome. Because males have only 1 X chromosome but females have 2, these sex-linked diseases are more apparent in males. Hemophilia is an example of a sex-linked disease, meaning that males are the ones usually affected. FISH can be used to separate male and female embryos, and in this case, only female embryos would be transferred to the mother. The same applies if a chromosomal abnormality is seen using PCR in that only normal embryos would be transferred.
While no procedure is guaranteed to eliminate birth defects, there are many genetic diseases that can be identified using PGD and research continues to expand the list. Using PGD lowers the chances of genetic birth defects.