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孕妇血清筛查胎儿18三体综合征:固定临界值与个体特异性风险方案的比较。

Maternal serum screening for fetal trisomy 18: a comparison of fixed cutoff and patient-specific risk protocols.

作者信息

Benn P A, Leo M V, Rodis J F, Beazoglou T, Collins R, Horne D

机构信息

Department of Pediatrics, University of Connecticut Health Center, Farmington 06030-6140, USA.

出版信息

Obstet Gynecol. 1999 May;93(5 Pt 1):707-11. doi: 10.1016/s0029-7844(98)00554-7.

Abstract

OBJECTIVE

To compare the effectiveness of two widely used protocols for second-trimester screening for fetal trisomy 18.

METHODS

Second-trimester screening results for 41,565 women were reviewed to determine whether pregnancies could be considered to be at high risk for trisomy 18. The screening test was considered positive if either maternal serum concentrations of alpha-fetoprotein (MSAFP), hCG, and unconjugated estriol (E3) fell below defined levels, or the second-trimester patient-specific risk (based on maternal age and serum analytes) was greater than 1:100. Detection rates, false-positive rates, and pregnancy outcomes for the two protocols were compared.

RESULTS

The fixed-cutoff method showed a 23% detection rate and a 0.19% false-positive rate for trisomy 18. These low rates were in close agreement with a theoretical expectation for fixed-cutoff trisomy 18 screening. The risk-based approach resulted in a 69% detection rate and a 0.45% false-positive rate. Both methods identified pregnancies with other fetal anomalies.

CONCLUSION

Overall, the risk-based method is more effective than the fixed-cutoff approach to trisomy 18 screening.

摘要

目的

比较两种广泛应用的孕中期胎儿18三体综合征筛查方案的有效性。

方法

回顾了41565名女性的孕中期筛查结果,以确定妊娠是否可被视为18三体综合征的高危妊娠。如果孕妇血清甲胎蛋白(MSAFP)、人绒毛膜促性腺激素(hCG)和未结合雌三醇(E3)浓度低于规定水平,或孕中期个体风险(基于孕妇年龄和血清分析物)大于1:100,则筛查试验被视为阳性。比较了两种方案的检出率、假阳性率和妊娠结局。

结果

固定截断值法对18三体综合征的检出率为23%,假阳性率为0.19%。这些低比率与固定截断值18三体综合征筛查的理论预期密切一致。基于风险的方法导致检出率为69%,假阳性率为0.45%。两种方法均识别出伴有其他胎儿异常的妊娠。

结论

总体而言,基于风险的方法在18三体综合征筛查中比固定截断值法更有效。

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