Edwards syndrome: prenatal diagnosis by ultrasound

Edwards syndrome is the second most common trisomy syndrome occurring in 0.3/1,000 births. The prenatal diagnosis of this trisomy may be suspected in the routine ultrasound exam of the pregnancy by means of the recognition of a constellation of findings: fetal structural anomalies, intrauterine growth retardation (CIR) and umbilical cord or amniotic fluid volume abnormalities. The diagnosis is then confirmed by chromosome analysis of either amniotic fluid or fetal blood or tissue. We present six cases of Edwards syndrome suspected by fetal ultrasonography exam, all of them confirmed by karyotype, describing the major sonographic findings. (Author) 15 refs