Tag Archives: Preimplantation Genetic Diagnosis

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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Focus On Argentina: Treating Infertility Abroad

by Fertility Argentina | PlacidWay

Infertility afflicts millions of couples around the world. Assisted reproduction techniques and affordable fertility treatment in Buenos Aires, Argentina are just a few options available to international travelers seeking advice regarding infertility procedures, including In Vitro Fertilization (IVF), egg donation, and assisted conception and reproduction techniques and procedures. One of the most notable clinics in South America that deals with fertility and infertility issues is the Fertility Argentina: CEGYR (Centro de Estudios en Ginecología y Reproducción / Center of Studies in Gynecology and Reproduction). CEGYR has an ISO 9001 (International Organization for Standardization) certification of quality and follows the key priniciples of Assisted Conception Taskforce (ACT). Based in Buenos Aires, Argentina, this treatment facility provides compassionate, professional and personal care for individuals undergoing fertility treatments abroad.

Dr. Demian Glujovsky, a reproductive endocrinologist, obstetrician and gynecologist, offers state-of-the-art techniques and procedures at the facility. Trained in the United States and Argentina, Dr. Glujovsky earned a Master’s degree in clinical and healthcare effectiveness by the University of Buenos Aires, and ISO (International Organization for Standardization) certification in the Assisted Conception Taskforce (ART).

Assisted Reproduction Technology
Fertility Argentina is a center that focuses on assisted reproduction technologies, techniques and procedures  (ART), offering cost effective treatments combining physical and psychological support in a variety of fertility treatments. The facility offers a variety of screening tests to decide on adequate treatments that include but are not limited to hormone testing, standard semen analysis and baseline ultrasounds. Their professionals have developed deeper sperm tests and procedures, specially for couples with abnormal sperm quality, such as Tunel and activated caspases (sperm DNA fragmentation) and annexin V columns. Experts at fertility Argentina are experienced and well trained in ART cycles, which include screening tests, cycle preparation, which includes medications to increase ovarian response, retrieval of oocytes (immature eggs), IVF (in vitro fertilization), ICSI (intracytoplasmic sperm injection) or IMSI (Intracytoplasmic Morphologically selected Sperm Injection), classification and embryo transfers.

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Prevention always better than cure

by Superior A.R.T.

PGD offers a wide range of reproductive options
“Shadow is just an 11-month old boy, but a victim. He has got pneumonia and an enlarged liver and spleen. He was finally diagnosed with thalassemia. A bone marrow transplantation costing over one million baht is the most effective medical treatment to save his life.”

“Marwin is another thalassemia sufferer. He is quiet small and retarded when compared to children of the same age. He has to receive blood transfusion therapy every month to maintain his growth and developement. If not effectively managed, Marwin may die at 15 years of age.”

Thalassemia, an inherited, genetic blood disorder, is a chronic debilitating disease which can be lethal. Patients must struggle through their life in order to fight this severe disease. To live longer, they need constant treatment involving regular blood transfusions as well as regular clinical visits. Repeated blood transfusions can also cause problems of iron overload which can damage many organs such as liver, heart, skin and pancrease. Even more unfortunately, infants with Thalassemia, like shadow, may grow slowly, develop severe problems or die if they don’t receive proper treatment. Although bone marrow transplantations can offer a complete cure for patients with thalassemia major, it is not an easy task. for the best tissue match, bone marrow is donated from a brother or sister.

The dedication of parents to the health of their children is first and foremost as their children grow. In addition to physical health and development, parents always realize that social and psychological health of their children really does count. Sad to say, a life with thalassemia is an absolute nightmare for children and their families.

To tackle the root of the problem, parents who want to have a baby free of disease can take advantage of PCD, an assisted reproductive technology. Preimplantation Genetic Diagnosis (PGD) (also known as Embryo Screening) is a form of genetic diagnosis performed prior to implantation. It is a reasonable choice for couples at risk of transmitting hereditary genetic diseases to their children. PGD allows scientists to choose unaffected embryos and transfer them to a woman undergoing in vitro fertilization (IVF).

PGD is very powerful and can be beneficial to many couples. It can be applies in many different circumstances to serve the needs of individual couples that are at risk of conceiving genetically abnormal children. Superior A.R.T., one of the leading providers of PGD in Southeast Asia, offers comprehensive PDG option to interested couples.

Superior A.R.T. also offers PGD to couples who have identifiable genetic disorders, including thalassemia, breast cancer and many more. We believe that it would be less upsetting to discard an abnormal embryo before implantation, rather than go through early pregnancy and make the difficult decision whether to continue with an abnormal pregnancy or abort it. In those couples with a complete analysis of their genetic defects, Superior A.R.T. can test for such abnormalities in their embryos in order to prevent those undesirable genetic abnormalities. A search among family members for a bone marrow donor that can provide HLA matching stem cells may enable you to use PGD to bring a child into the world (this topic will be continued in the next article).

Please click here to read more about PGD Reproductive in Thailand