【摘要】 目的探讨孕早期胎儿染色体异常的产前筛查方案。方法采用时间分辨荧光免疫法对孕11~14周的2739例孕妇血清中的人绒毛膜促性腺激素β亚单位(βhCG)、妊娠相关血浆蛋白A(PAPPA)进行检测,同时利用腹式或阴式B超测量胎儿颈部半透明膜厚度;结合孕妇年龄筛查染色体异常高危胎儿,并通过绒毛或羊水细胞染色体核型分析进一步明确诊断。结果通过四联筛查方案筛查出染色体异常高危胎儿325例,经产前诊断确诊22例胎儿为染色体异常;胎儿染色体异常检出率91.67%,假阳性率11.16%。结论孕早期检测胎儿颈部半透明膜厚度、βhCG、PAPPA和年龄四联筛查方案对孕早期产妇产前筛查胎儿染色体异常有较好的实用价值。更多还原

【Abstract】 Objective To Investigate the performance of prenatal screening for chromosomal abnormalities in first trimester.Methods Maternal serum was collected from 2 739 pregnant women between 11and 14 weeks gestation.Free β human chorionic gonadotrophin(β-hCG)、pregnancy-associated plasma protein(PAPP-A)were measured by using time resolued fluorescence immunoassay(TRFIA) and fetal nuchal translucency(NT)thickness was measured by using transabdominal or transvaginal ultrasound.The risks of chromosomal defects were analyzed by a combination of maternal age,biochemistry markers and NT.Chromosomal defects were diagnosed by using karyotype of amnlotic cells.Results The estimated risks based on maternal age,biochemistry markers and NT were used to find chromosomal abnormality in 325 cases.Chromosomal defects were diagnosed in 22 cases.We found that screening for chromosomal defects by a combination of NT and serum biochemical markers was associated with a detection rate of 91.67% for all types of chromosomal defects,with a false-positive rate of 11.16%.Conclusion A combination of nuchal translucency measurement with serum biochemical markers and maternal age can provide an effective method of screening for chromosomal defects.更多还原