PGD-PCR success for VHL disease : A case report from Superior A.R.T.

by Piyaphan Punyatanasakchai, M.D. | Superior A.R.T.

Abstract : Von Hippel-Lindau (VHL) is a rare autosomal dominant genetic condition involving the abnormal growth of blood vessels result in little knots which are called angiomas or hemangioblastomas in some parts of the body which are particularly rich in blood vessels such as in the cerebellum, spinal cord, kidney and retina. These abnormal vessels usually occur in the retina. As a result, loss of visions is very common. Some of these tumors are benign, while others are cancerous.

There is a wide variation in the age of onset of the disease, the organ system affected and the severity of effect. This disease is caused by mutation of the Von Hipple-Lindau tumor suppressor (VHL) gene on the short arm of chromosome 3. About 80% of cases were inherited this mutation gene from one of their parents. ICSI and Preimplantation Genetic Diagnosis (PGD) with PCR technique is a method to avoid VHL gene transmission from the parents to the child. A 37 years old healthy woman and her 37 years old husband who has experienced multiple organ tumors from VHL has come to Superior ART to consult about their plan to have unaffected child(ren) since last year. They have one child, 2 years old, who also has got VHL mutated gene transmitted from his father.

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