“…Indeed, the indication for CVS was not OI diagnosis, but rather fetal karyotyping because of a previous fetus with trisomy 18. In previously reported cases of prenatally diagnosed OI that applied DNA based techniques, the indication was either a severe form of the disease (type II or III) (Valli et al, 1993;DiMaio et al, 1993;Raghunath et al, 1994;Gomez-Lira et al, 1994), or an ultrasonographic abnormality compatible with OI in the appropriate familial context (Ghosh et al, 1984;Robinson et al, 1987;Constantine et al, 1991;Thompson, 1993;Bulas et al, 1994;Berge et al, 1995). Evaluation of the accuracy of ultrasonography in assigning speci®c diagnoses in lethal skeletal dysplasias, including OI, yielded a rate of about 50%, and in 8/14 cases, the erroneous diagnosis impacted the accuracy of genetic counselling (Tretter et al, 1998).…”