PREIMPLANTATION GENETIC DIAGNOSIS IN MARFAN-SYNDROME

The in vitro fertilization technology coupled with the ability to ampl ify DNA from a single cell has been used for the preimplantation genet ic diagnosis of Marfan syndrome. An intragenic FBN1 gene marker has be en used to track the inheritance of this disorder in a family. Marker genotyping was established following two rounds of amplification. When ever possible, two blastomeres were separately assayed per embryo. The transfer of five embryos resulted in a singleton pregnancy and the bi rth of a full-term male infant.