[Clinical spectrum and congenital anomalies in trisomy 18]

Ultrasound sonography has become a major diagnostic tool in the detection of fetal trisomy 18. And, because understanding fetal trisomy 18 is important for us, we examined the variegated presentations of trisomy 18. Clinical observation of 16 cases and autopsy findings in 14 cases of 18 trisomy are presented. These patients were seen during the seven-year period 1981-1988. All patients died in the first 3 months of life. The mean maternal age was 31.8 years and other clinical observation coincided well with those of other reports well recognized. In 15 cases, typical features of 18 trisomy (intrauterine growth retardation, trisomy face, hand and foot deformities) were seen. However, one case presented an atypical phenotype. Holoprosencephaly was superimposed, and this combination is believed to be unique. Another abnormality of the central nervous system was cerebellar hypoplasia in 50% of the cases and this incidence was much higher than in Smith's textbook (less than 10%). And in this paper we also reported a rare anomaly of the coronary artery and described first an abnormality of aortic arch and calcification of the placental vein in this paper. Findings in the present study were compared to the literature.