History and Experience
it is more than a decade since the first PGD for SGD was
performed (Handyside et al., 1992), the complexity of the
approach has so far limited its clinical application. PGD is
a multidisciplinary procedure that requires combined
expertise in reproductive medicine and molecular genetics (Geraedts
et al., 2001). Thus, even if the numbers of centres
performing PGD is increasing steadily, mainly for aneuploidy
screening, only a few centres worldwide are offering PGD for
SGDs as a clinical service.
To date it is estimated that PGD has been applied in over
100 different SGDs in over 1000 cycles, resulting in the
birth of more than 300 unaffected children (ESHRE PGD
Consortium, 2002; Sermon et al., 2005).
The PGD program at GENOMA for singe gene disorders is the
product of almost 10 years of extensive protocol development
including test refinement and rigorous validation.