Genetic Test for Cystic Fibrosis in Embryos

Filed in archive IVF and Assisted Pregnancies , Medical Issues on July 13, 2009

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Cystic fibrosis is a genetic disorder that affects the secretory glands, including the glands that produce mucus and sweat, which leads to various diseases of the lungs, sinuses, gastrointestinal system, liver, pancreas, and may even result to infertility especially among males. Although it is relatively rare, it is considered to be one of the most widespread life-shortening genetic diseases.

If you are undergoing IVF and cystic fibrosis run in your or your partner's genes, you probably would want to know whether your baby might have cystic fibrosis. In the recently held 25th annual meeting of the European Society of Human reproduction and Embryology in Amsterdam, scientists report of having developed a test for embryos that could detect not only diseases caused by a specific gene mutation, in this case cystic fibrosis, but that it was also capable of detecting aneuploidy (an abnormal number of any of the 23 pairs of chromosome) at the same time.

Gary Harton, PGD scientific director of the Genetics & IVF Institute in Fairfax, Virginia (USA) told a news briefing: "Karyomapping is a universal method for analysing the inheritance of genetic defects in the preimplantation embryo without any prior patient or disease specific test development, which often delays patient treatment. For the first time, the inheritance of both single gene defects and chromosomal abnormalities can be detected simultaneously at the single cell level. Unlike other methods, this is achieved entirely by analysing the DNA sequence at over 300,000 locations genome-wide in parents and appropriate family members, often children already affected by a disease, and comparing their sequence with that inherited by the embryo. This can be achieved very rapidly using current microchip technology known as microarray."