In Vitro Fertilization (IVF)

• Preimplantation Genetic Diagnosis
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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 A single cell is withdrawn for the PGD procedure(s) without damage to the embryo.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.
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Do you have your mother’s dimples? Or your father’s hairline? What makes us, us? And how much of it actually sets us apart from every other living thing on Earth?

Genome: Unlocking Life’s Code begins to unravel the mystery behind the complete set of instructions needed for every living thing on Earth to grow and function: the genome. Discover how your genome could be the key to maximizing your future quality of life as genomic science helps open the way to more personalized healthcare. See yourself in a new way: as an individual, as a member of a family, and as part of the diversity of life on Earth.

Genome: Unlocking Life’s Code opens January 19 at McWane Science Center and was made possible in part by financial support secured by the Foundation for the National Institutes of Health. The exhibit is sponsored by UAB Medicine, which is using its knowledge of the human genome to advance the field of precision medicine, an exciting approach to health care that combines the absolute latest in the prediction and prevention, diagnosis, and treatment of disease to deliver truly individualized patient care.

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