SummarySkeletal malformations affect one out of every 500 newborn babies in Italy. Genetic counselling enables identification of women at risk for these abnormalities, and ultrasound scanning permits prenatal diagnosis. Of 49 patients studied between October 1984 and June 1988, 29 women had a greater risk of fetal skeletal abnormalities than that in the general population. With ultrasound scanning, no false positive diagnoses were made. In four women at increased risk, pathological features were foundin uteroby ultrasound and in two women the diagnosis was missed and made after birth. One of these was a case of hypophosphataemic rickets, diagnosed by X-ray at 10 months of age; the other was monitored for cleft lip and palate, but a cleft lip was found only at birth.