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Preimplantation genetic diagnosis in Marfan syndrome
M W Kilpatrick1, G L Harton, L A Phylactou
1Department of Pediatrics, University of Connecticut Health Center, Farmington 06030, USA.
Fetal Diagnosis and Therapy
|November 1, 1996
Abstract:
The in vitro fertilization technology coupled with the ability to amplify DNA from a single cell has been used for the preimplantation genetic diagnosis of Marfan syndrome. An intragenic FBN1 gene marker has been used to track the inheritance of this disorder in a family. Marker genotyping was established following two rounds of amplification. Whenever possible, two blastomeres were separately assayed per embryo. The transfer of five embryos resulted in a singleton pregnancy and the birth of a full-term male infant.