Prenatal ultrasound diagnosis of Roberts syndrome in a family with negative history

A case is presented in which the ultrasonographic detection of multiple congenital anomalies led to the diagnosis of Roberts syndrome in the fetus of a woman with a negative family history. The fetus had bilateral cleft lip and palate, bilateral amesomelia with ectrodactyly, a complex congenital heart disease and intrauterine growth retardation. These malformations are frequent in Roberts syndrome and, therefore, an amniocentesis was performed to detect the cytogenetic marker of this syndrome, premature centromere separation. This phenomenon could not be detected in metaphases from amniocytes, but it was present in peripheral lymphocytes cultured at birth. The clinical implications of these findings are discussed. Furthermore, to our knowledge, this represents the first case in which the suspicion of Roberts syndrome was raised by ultrasound in a family with a negative family history.