Chicago Doctor Helps Families Eradicate Genetic Disease

Main Category: Fertility
Also Included In: Genetics;  Blood / Hematology
Article Date: 04 Nov 2006 - 0:00 PDT

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In February of 2004, Jennifer and Brian Lester welcomed a healthy baby girl into the world. The Lesters did not have a problem conceiving, yet used a fertility treatment, in vitro fertilization with preimplantation genetic diagnosis (PGD) as Jennifer's father has Hemophilia B and Jennifer is a carrier. Hemophilia B is an inherited disease that prevents blood from clotting properly. It is caused by a mutation in a single gene that causes deficiency of a plasma protein called factor IX. Women like Jennifer who are carriers for the mutation will always have affected sons. One half of her daughters will be carriers. PGD can be used to identify embryos that are neither affected nor carriers -- thus ending the affected blood line. Through PGD, Jennifer's daughters will never again have to worry about this disease affecting their children.

Ecstatic with the revolutionary process of PGD and its ability to give Jennifer and Brian a healthy daughter, the Lesters once again sought the help of Dr. Randy Morris, a specialist in PGD and Medical Director of IVF1, to conceive a second child who would not be affected by Hemophilia B and would not be a carrier. By eliminating the chances of having a child who does not even carry the disease, the Lesters are giving their children a chance to conceive naturally and not have to undergo any fertility treatment in the future.

Dr. Morris explains, "PGD is a technique that permits analysis of the genetics of an embryo prior to placing the embryo into the uterus of a woman undergoing in vitro fertilization (IVF). Though its use has expanded to sex selection and other applications, the primary use of PGD is to permit the selection of chromosomally normal embryos along with testing for genetic abnormalities leading to diseases such as Hemophilia B, Cystic Fibrosis, Tay Sachs Disease, Muscular Dystrophy and many others."

PDG is a four-step procedure and began with Jennifer's father being tested so his exact genetic mutation could be detected. Next, Jennifer was tested to verify that she had that mutation, and a probe was then made in Dr. Morris' laboratory that would identify the mutation in embryos. Since Jennifer had undergone PGD with Dr. Morris previously, a probe was already established, and Jennifer would just have to undergo an IVF cycle. The embryos produced would be analyzed using that probe for the Factor IX mutation.

Dr. Morris found about one half of the embryos did not contain the mutation. Two embryos were implanted into Jennifer's uterus. Today, Jennifer is pregnant with her second daughter that is due in June of 2007.

IVF1
http://www.ivf1.com/

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