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Lawrence B. Werlin, M.D., F.A.C.O.G. , a renowned specialist in reproductive endocrinology and infertility, is the co-founder of GENESIS Network for Reproductive Health, a team of nationally noted fertility specialists and industry leaders. Werlin is currently the principal investigator for a number of studies that are paving the way for advances in reproductive medicine. For more information, visit www.WerlsFertilityWorld.com or www.GenesisIVF.com.

PGD Eliminates Threat of Hemophilia in Newborn Babies

Carriers of hemophilia, a serious blood-coagulation disorder affecting more than 20,000 Americans, can draw hope of eliminating the condition's prevalence in subsequent generations from an advanced reproductive medical technique known as Preimplantation Genetic Diagnosis (PGD).

Under the medical supervision of a specialist in reproductive endocrinology and infertility, couples are enabled to screen their embryos for the disease - which has an incidence rate of 400 babies per annum - and thereby remove the risk of giving birth to a child with hemophilia. For Michelle Rappaport, a hemophilia carrier who grew up watching her father suffer from the effects of the disease, PGD offered a way to eliminate the threat of its life-threatening affects from her family tree as well as future generations. PGD has similar applications with other genetic diseases such as Cystic Fibrosis and Huntington's Disease. In addition to genetic counseling, PGD offers an option to parents concerned with reducing the likelihood of passing along a hereditary disease.

When Michael and Michelle Rappaport initially sought the help of a fertility specialist to conceive their daughter, they were unaware that PGD could be used to screen for hemophilia - a disease so severe that Michelle's father was not expected to live past the age of 10 years old.

What is Hemophilia?

In hemophiliac patients, the mechanism for blood clotting has a reduced presence. Depending on the severity of the disorder, injuries to the body's blood vessels can trigger excessive bleeding for extended periods of time. With decreased quantities of necessary clotting factors, hemophiliac patients can experience life-threatening responses to even the slightest trauma. Toddlers are particularly susceptible, due to their frequent tendency to fall or bump into objects. Statistics point to hemophilia as the cause of death for 32 people every week.*

The Rappaports recalled frequent hospital visits before the death of Michelle's father in his early 50s, which prompted them to utilize PGD treatment for the protection of their future bloodline. Because studies have shown that about two-thirds of all individuals with hemophilia have inherited the disease, and that it manifests almost exclusively in males, Michelle was implanted with a healthy, female embryo. Today, the Rappaports are the proud parents of a beautiful baby girl named Samantha Ruby, and hope to have a future sibling for her one day.

How Does PGD Work?

PGD is a therapeutic and genetic testing tool that allows for the analysis and identification of abnormal embryos in individuals at high risk for genetic disorders; and subsequent transfer of healthy embryos back to the uterus. Hemophilia is one of a host of disorders identified through use of the chromosomal genetic testing technique, in addition to more common conditions such as Down Syndrome. The straightforward process involves the following steps:

  • All embryos that are six to eight-cell that are harvested from the patient are used for DNA testing
  • In a laboratory environment, the testing reveals the sex of the embryo
  • The embryo is also tested to determine its chromosomal makeup
  • Results are obtained within 24-48 hours after biopsy
  • Embryos found to be free of abnormality are transferred

Because so many variations in the severity of hemophilia exist, it is difficult to make an assessment as to the future of the condition. But for carriers of the afflicting gene-like Michelle Rappaport-new hope is available to reduce or even eliminate hemophilia's existence in newborn babies and future familial generations, through the use of Preimplantation Genetic Diagnosis.

* data was obtained from The National Heart, Lung, and Blood Institute (NHLBI)

Created: 5/14/2007  -  Donnica Moore, M.D.

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