Combination of saliva test with ultra high-tech biopsy process may help prevent genetic disorders

Jan 22 2010

Florida's largest fertility clinic announced it is the first in the state to offer promising new tests against birth defects: a coupling of technologies that will allow couples to avoid passing along more than 100 genetic diseases to their newborn.

Specialists of IVF Florida Reproductive Associates are optimistic that the combination of a brand-new saliva test – administered before pregnancy – to identify couples at risk of bearing children with genetic diseases, along with an ultra high-tech biopsy process – conducted after conception – will help prevent the inheritance of many genetic disorders.

The tests screen disorders ranging from Tay-Sachs to cystic fibrosis to sickle cell disease, said Dr. Steven J. Ory of IVF Florida and former president of the American Society of Reproductive Medicine. The process lets parents screen for genetic diseases before pregnancy—rather than face unwelcome news later in pregnancy when tests such as amniocentesis and chorionic villus sampling are done.

"After 30 years in reproductive medicine, I am more optimistic about this development in genetic disease prevention than I've ever been," Ory said. "It appears to be very promising helping parents-to-be routinely screen for many inherited diseases."

The Universal Genetic Test became available in late 2009 from Counsyl, Inc. and can be ordered through IVF Florida with results returned in two weeks. If both parents' tests show they are carriers of certain recessive genes, they can undergo IVF, an embryo biopsy and microarray pre-implantation genetic diagnosis (PGD).

"More than 80 percent of children with inherited diseases are born to healthy parents with no family history of those diseases," Ory said. "A five-minute saliva test to alleviate such anguish is a major step in disease prevention."