美国人群中孕早期非整倍体筛查的临床应用能够复制临床试验的数据。

Clinical use of first-trimester aneuploidy screening in a United States population can replicate data from clinical trials.

作者信息

Perni Sriram C, Predanic Mladen, Kalish Robin B, Chervenak Frank A, Chasen Stephen T

机构信息

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Weill Medical College of Cornell University, New York, NY 10021, USA.

出版信息

Am J Obstet Gynecol. 2006 Jan;194(1):127-30. doi: 10.1016/j.ajog.2005.06.068.

DOI:10.1016/j.ajog.2005.06.068

PMID:16389021

Abstract

OBJECTIVE

The clinical application of first-trimester aneuploidy screening remains controversial in the United States. The aim of our study was to evaluate the performance of maternal age, fetal nuchal translucency measurements, pregnancy-associated plasma protein A, and free beta-human chorionic gonadotrophin used in aneuploidy screening in a single institution outside of a clinical trial.

STUDY DESIGN

Four thousand eight hundred eighty three patients underwent first-trimester aneuploidy screening at 11 to 13 6/7 weeks of gestation (fetal crown-rump length 45 mm to 84 mm) at our institution between January 2003 and September 2004. Measurement of nuchal translucency was performed according to the Fetal Medicine Foundation standards and was included in the overall risk assessment performed by NTD Laboratories. Measurement of pregnancy-associated plasma protein A and free beta-human chorionic gonadotrophin on maternal dried whole blood samples was conducted by NTD Laboratories and was reported as gestational-specific multiples of the median adjusted for ethnicity. Risk adjustment for trisomy 21 and trisomy 18 was done with a standard algorithm using maternal age, serum biochemistry, and nuchal translucency. Only singleton gestations (N = 4615) were included in the analysis.

RESULTS

The median maternal age was 33.0 years (interquartile range 31.0 to 36.0) and the median crown-rump length was 61.2 mm (interquartile range 55.7 to 67.2) at the time of screening. There were a total of 22 fetuses diagnosed with trisomy 21 and 8 with trisomy 18. The detection rates for trisomy 21 for a 5% false-positive rate and 1% false-positive rate were 90.9% (20 of 22) and 77.3% (17 of 22), respectively. Similarly, the detection rates for trisomy 18 at a 5% false-positive rate and a 1% false-positive rate were 100% (8 of 8) and 100% (8 of 8), respectively.

CONCLUSION

Non-investigational use of first-trimester aneuploidy screening for trisomy 21 and trisomy 18 can replicate results from investigational trials.

摘要

目的

孕早期非整倍体筛查在美国的临床应用仍存在争议。我们研究的目的是在一项临床试验之外的单一机构中，评估孕妇年龄、胎儿颈部透明带测量值、妊娠相关血浆蛋白A以及游离β-人绒毛膜促性腺激素在非整倍体筛查中的表现。

研究设计

2003年1月至2004年9月期间，4883例患者在我院接受了孕11至13⁶/₇周（胎儿头臀长45毫米至84毫米）的孕早期非整倍体筛查。颈部透明带的测量按照胎儿医学基金会的标准进行，并纳入了NTD实验室进行的总体风险评估。NTD实验室对孕妇干血样本中的妊娠相关血浆蛋白A和游离β-人绒毛膜促性腺激素进行测量，并报告为根据种族调整后的中位数的孕周特异性倍数。使用标准算法，根据孕妇年龄、血清生化指标和颈部透明带对21三体和18三体进行风险调整。分析仅纳入单胎妊娠（N = 4615）。

结果

筛查时孕妇年龄中位数为33.0岁（四分位间距31.0至36.0），头臀长中位数为61.2毫米（四分位间距55.7至67.2）。共有22例胎儿被诊断为21三体，8例为18三体。21三体在假阳性率为5%和1%时的检出率分别为90.9%（22例中的20例）和77.3%（22例中的17例）。同样，18三体在假阳性率为5%和1%时的检出率分别为100%（8例中的8例）和100%（8例中的8例）。