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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Successful pregnancy after preimplantation genetic diagnosis in a female with Sickle cell Anemia

by Superior A.R.T
I’d like to mention the case of a couple who carries Sickle Cells Anemia. They came to seek our advice of how to have an inherited disease free baby. This has led me come in contact with Superior A.R.T. center and its laboratory services to consult the possibility of PGD-PCR testing. It was a unique case since, as far as I am aware of, this was the first case ever of PGD-PCR testing for Sickle Cells Anemia in Thailand.

Discussing with scientists from Sydney IVF and Superior A.R.T. gave me such a high confidence in this center. Thanks to their prompt response, we were able to provide rapid advice about the most suitable treatment. Following the first talk with the patients, it took us only a few days after to contact Superior A.R.T. and prepare the whole process of treatment starting from Preparation for specific test. I was very impressed by their prompt and efficient services. And it is such a great delight that the treatment resulted in successful conception. She recently delivered a healthy baby girl with the birth weight of 3,700 grams by a cesarean delivery.

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