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

They have ever done ICSI and PGD-PCR in United States 3 years before but not succeeded. Development of PGD-PCR kits was carried out 10-12 weeks before ICSI program. Once the test kit was ready, ovarian stimulation was performed using Antagonist protocol. 12 eggs were retrieved with 8 MII. Unfortunately, only one 2PN embryo was developed. This one embryo was cultured to day 5 blastocyst and freeze. Two month later, Short protocol was performed to re-stimulate the eggs. 12 eggs were retrieved with 10 MII and resulted in four 2PN. Biopsy was performed on two fresh and one frozen-thawed hatched blastocysts on day 6 following PGD-PCR analysis. The PGD-PCR results showed that there were 2 unaffected embryos.

These two unaffected blastocyst were transferred into uterine cavity under ultrasound guided and result in a singleton pregnancy. The pregnancy is now going on. This is the fif irst case report of successful pregnancy after ICSI and PGD program for VHL for private IVF center in Thailand.

Sharing Patient's Journey
It was a truly amazing technology we have just next door! I have a disease called Von Hippel Lindau (VHL), a very rare case of genetic disorder -- my wife and I did not want to pass it on to our children. Although this was the f ifirst attempt with Superior A.R.T., it was our second time that we tried to overcome this with PGD-IVF technology. About fif ive years ago when we worked and lived in the US, we carried out PGD-IVF procedure with the clinic in the US when we found out that this technique could help to screen the mutated genes.

Unfortunately, we ended up with only one tested negative for VHL embryo left for transfer – the IVF step was not successful. We decided to leave this behind – we naturally had our f ifirst child a year after that. A few years later when returning to Thailand, during my internet search, I found that Superior A.R.T. can perform VHL screening through their PGD/PCR-IVF procedures.

It was not an easy decision this time after our unsuccessful experience that we had. To us, doing this kind of procedures is both emotional and physical challenging. However, after consulting with Dr. Piyaphan Punyatanasakchai and Khun Pannatee Sanpong, the genetic scientist at Superior A.R.T., we were confif ident and that this could work and decided to have another try. Thanks for Dr. Piyaphan, Khun Pannatee, and their professional and dedicated staffs at Superior A.R.T., my wife was transferred with two tested VHL-negative embryos and she is now 20-week pregnant.

We are expecting our second child late this year. We are excited and can not wait to see how happy our family will be with another new coming member. This will not at all be possible, without faith and technology, and more importantly professional team at Superior A.R.T. By the way the clinic is just fifif ifteen minutes away from where we live - we will certainly bring our children to visit the clinic and the team again soon.

Please Click Here to request more information from Superior A.R.T.

Piyaphan Punyatanasakchai, M.D. | Superior A.R.T.  2010-07-13   Articles/Press Releases
Fertility Treatment in Thailand,Infertility | IVF in Thailand,

Superior A.R.T., Von Hippel-Lindau, ICSI, Preimplantation Genetic Diagnosis, PGD program, PGD-IVF procedure, PGD-IVF technology, PGD/PCR-IVF procedures