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先天愚型(DS)产前诊断的无损伤筛选方法是:超声检查和母血清 AFP、HCG 及游离雌三醇定量检查。超声检查只能检出约75％的高危妊娠。而母血清 AFP、HCG 和雌三醇筛查将导致假阳性率上升,因而约5％～7％的妊娠需做胎儿核型分析以确诊或排除可疑的 DS 病例。位于21号染色体上的 Cu/Zn 过氧歧化酶(SOD)基因与导致 DS 的基因紧密相关,作者建立了 Cu/Zn SOD 的酶免疫测定方法,并用于确诊或排除经超声或母血清AFP 检查疑具 DS 风险胎儿。
Prenatal diagnosis of Down’s syndrome Prenatal diagnosis of non-invasive screening methods are: ultrasound and mother serum AFP, HCG and free estriol quantitative examination. Ultrasonography can only detect about 75% of high-risk pregnancies. Screening of maternal serum AFP, HCG and estriol will result in an increase in false-positive rates, so about 5-7% of pregnancies require fetal karyotyping to confirm or rule out suspected DS cases. Cu / Zn superoxide dismutase (SOD) gene located on chromosome 21 is closely related to the gene leading to DS. The authors established an enzyme immunoassay for Cu / Zn SOD and used to diagnose or rule out ultrasound or maternal serum AFP Suspected DS risk fetus.