Prenatal detection of fetal trisomy 18 through abnormal sonographic features

摘要: Objective. To describe the prenatal detection of fetal trisomy 18 through abnormal sonographic features and to determine sensitivity sonographically detecting fetuses with 18. Methods. All genetic cytogenetic records were reviewed retrospectively (1992-2002). From these, singleton who had sonography at our unit identified. The maximal numbers individual abnormalities from 1 examination (not limited type organ system) recorded. Each abnormality was classified as major, minor, or other, each system only once, regardless number identified in that system. determined. Results. Of 38 18, all 4 more prenatally detected (sensitivity 100%). median per 8 (range, 4-19). Sonographically major cardiac (84%; n = 32), central nervous (87%; 33), gastrointestinal (26%; 10), genitourinary (16%; 6). minor short ear length below 10th percentile for gestational age (96%; 26/27), upper extremities hands (95%; 36), lower feet (63%; 24), face (53%; 20). Fifty percent (19 38) choroid plexus cysts identified, but this never an isolated finding. Conclusions. In experienced hands, on is 100%, cases will have multiple anomalies visualized.