血清生化标记物结合胎儿颈部半透明膜厚度产前筛查胎儿染色体异常

Screening for chromosomal abnormalities using nuchal translucency measurement with materal serum biochemistry markers in first trimester

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 (TRFIA)对孕 11 14周的 2 739例孕妇血清中的人绒毛促性腺激素β亚单位 (β hCG)、妊娠相关血浆蛋白A(PAPP A)进行检测 ,同时利用腹式或阴道B型超声波测量胎儿颈部半透明膜 (NT)厚度 ,筛查出 2 2例染色体异常胎儿 (通过羊水细胞染色体核型分析明确诊断 ) ,比较分析 2 2例染色体异常胎儿与 870例对照组三种标记物水平。结果 :病例组NT和 β hCG值明显较对照组高 ,PAPP A值明显比对照组低 ,差异有统计学意义 ,三项指标联合筛查 ,胎儿染色体异常检出率为 91.6 7% ,假阳性率为 11.16 %。结论 :孕早期NT +β hCG +PAPP A三联筛查方案对孕早期产前筛查胎儿染色体异常有较好的实用价值。

Objective: To Investigate the performance of prenatal screening for chromosomal abnormalities in first trimester. Methods: Maternal serum were collected from 2 739 pregnant women between 11 and 14 weeks gestation. Free βhuman chorionic gonadotrophin(β-hCG), pregnancy-associated plasma protein(PAPP-A) from materal serum were measured using time resolved fluorescence immunoassay (TRFIA) and fetal nuchal translucency(NT) thickness were measured using transabdominal or transvaginal ultrasound. 22 chromosomal defects were diagnosed in 22 cases using karyotyping. The levels of three markers were analyzed among 22 cases and 870 controls. Results: The level of three markers were significant difference between affected and unaffected pregnancies. In affected cases, the value or level of NT and free β-hCG were higher, while the level of PAPP-A was lower. We found that screening for chromosomal defects using a combination of NT and serum biochemistry 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 materal serum biochemistry markers provides an effective method of screening for chromosomal defects.