孕11至14周21三体综合征风险评估一站式门诊：对15030例妊娠的前瞻性研究

One-stop clinic for assessment of risk for trisomy 21 at 11-14 weeks: a prospective study of 15 030 pregnancies.

作者信息

Bindra R, Heath V, Liao A, Spencer K, Nicolaides K H

机构信息

Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.

出版信息

Ultrasound Obstet Gynecol. 2002 Sep;20(3):219-25. doi: 10.1046/j.1469-0705.2002.00808.x.

DOI:10.1046/j.1469-0705.2002.00808.x

PMID:12230441

Abstract

OBJECTIVE

To evaluate the performance of a one-stop clinic for assessment of risk (OSCAR) for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) thickness and maternal serum free beta-human chorionic gonadotropin (hCG) and pregnancy-associated plasma protein-A (PAPP-A) at 11-14 weeks of gestation.

METHOD

Screening for trisomy 21 was carried out by OSCAR in 15 030 singleton pregnancies with live fetuses at 11-14 weeks. The estimated risk for trisomy 21 was calculated, and the women were counseled regarding this risk and the option of invasive testing or expectant management. Follow-up of the outcome of all pregnancies was carried out. The detection and false-positive rates for different risk cut-offs were calculated.

RESULTS

Fetal NT and maternal serum free beta-hCG and PAPP-A were successfully measured in all cases. Pregnancy outcome, including karyotype results or the birth of a phenotypically normal baby, was obtained from 14 383 cases. The median maternal age of these cases was 34 (range 15-49) years and in 6768 (47.1%) the age was 35 years or greater. The median gestation at screening was 12 (range 11-14) weeks and the median fetal crown-rump length was 64 (range 45-84) mm. The estimated risk for trisomy 21 based on maternal age, fetal NT and maternal serum free beta-hCG and PAPP-A was 1 in 300 or greater in 6.8% (967 of 14 240) normal pregnancies, in 91.5% (75 of 82) of those with trisomy 21 and in 88.5% (54 of 61) of those with other chromosomal defects. For a fixed false-positive rate of 5% the respective detection rates of screening for trisomy 21 by maternal age alone, maternal age and serum free beta-hCG and PAPP-A, maternal age and fetal NT, and by maternal age, fetal NT and maternal serum biochemistry were 30.5%, 59.8%, 79.3% and 90.2%, respectively.

CONCLUSION

Screening for trisomy 21 by a combination of maternal age, fetal NT and maternal serum biochemistry at 11-14 weeks can be provided in an OSCAR setting and is associated with a detection rate of about 90% for a false-positive rate of 5%.

摘要

目的

通过结合孕11至14周时的孕妇年龄、胎儿颈部透明带（NT）厚度、孕妇血清游离β-人绒毛膜促性腺激素（hCG）和妊娠相关血浆蛋白-A（PAPP-A），评估一站式21三体风险评估诊所（OSCAR）的性能。

方法

OSCAR对15030例孕11至14周的单胎活胎妊娠进行21三体筛查。计算21三体的估计风险，并就该风险以及侵入性检测或期待管理的选择向孕妇提供咨询。对所有妊娠结局进行随访。计算不同风险截断值的检出率和假阳性率。

结果

所有病例均成功测量了胎儿NT以及孕妇血清游离β-hCG和PAPP-A。从14383例病例中获得了妊娠结局，包括核型结果或表型正常婴儿的出生。这些病例的孕妇年龄中位数为34岁（范围15至49岁），其中6768例（47.1%）年龄为35岁或更大。筛查时的孕周中位数为12周（范围11至14周），胎儿头臀长中位数为64毫米（范围45至84毫米）。基于孕妇年龄、胎儿NT以及孕妇血清游离β-hCG和PAPP-A，在6.8%（14240例中的967例）正常妊娠、91.5%（82例中的75例）21三体妊娠以及88.5%（61例中的54例）其他染色体缺陷妊娠中，21三体的估计风险为1/300或更高。对于固定的5%假阳性率，仅根据孕妇年龄、孕妇年龄与血清游离β-hCG和PAPP-A、孕妇年龄与胎儿NT以及孕妇年龄、胎儿NT与孕妇血清生化指标进行21三体筛查的各自检出率分别为30.5%、59.8%、79.3%和90.2%。