Pre-Implantation Marfan Syndrome Screen Developed

New approach reduces the wait for test results from six months to several weeks

FRIDAY, Sept. 1 (HealthDay News) -- Two different approaches to pre-implantation genetic diagnosis of Marfan syndrome -- the use of mutation-specific protocols and the use of multiplex polymerase chain reactions for linked markers -- may provide speedier results than currently used diagnostic assays, according to a study published in the August issue of Fertility and Sterility.

Martine De Rycke, Ph.D., and colleagues from Vrije Universiteit Brussel in Brussels, Belgium, developed two mutation-specific protocols and used the markers D15S1028, D15S992, D15S196, D15S576, D15S123 and D15S143 to set up four multiplex polymerase chain reactions.

The researchers developed six protocols for 10 couples carrying mutations in the FBN1 gene with the objective of using one protocol for several couples. In seven couples, they performed 16 pre-implantation genetic diagnosis clinical cycles, resulting in the birth of an unaffected boy and three ongoing pregnancies.

"We expect 90 percent of the new couples requesting pre-implantation genetic diagnosis for Marfan syndrome to be informative for at least two markers flanking each side of their mutation," the authors write. "If the segregation analysis can be performed, the couple can start the treatment immediately. This approach therefore provides an accurate and efficient pre-implantation genetic diagnosis and reduces the workload of the genetics laboratory and thus the average waiting time for patients from six months to a few weeks."

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