孕早期及序贯筛查对非整倍体的检测率

Detection Rates for Aneuploidy by First-Trimester and Sequential Screening.

作者信息

Baer Rebecca J, Flessel Monica C, Jelliffe-Pawlowski Laura L, Goldman Sara, Hudgins Louanne, Hull Andrew D, Norton Mary E, Currier Robert J

机构信息

California Department of Public Health, Genetic Disease Screening Program, Richmond, the Department of Pediatrics, University of California, San Diego, La Jolla, California; the Departments of Epidemiology and Biostatistics and Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, San Francisco, the Division of Medical Genetics, Stanford University, Stanford, California, and Maternal Fetal Care and Genetics, University of California, San Diego, San Diego, California.

出版信息

Obstet Gynecol. 2015 Oct;126(4):753-759. doi: 10.1097/AOG.0000000000001040.

DOI:10.1097/AOG.0000000000001040

PMID:26348180

Abstract

OBJECTIVE

To estimate detection rates for aneuploidy by first-trimester and sequential screening.

METHODS

The study included women with singleton pregnancies who participated in the California Prenatal Screening Program with estimated delivery dates from August 2009 to December 2012 who had first- or first- and second-trimester (sequential) screening. Detection rates were measured for target (trisomies 21 and 18) and other aneuploidies identified from the California Chromosome Defect Registry.

RESULTS

Of 452,901 women screened, 17,435 (3.8%) were screen-positive for Down syndrome only; 433 (0.1%) for trisomy 18 only; 1,689 (0.4%) for both Down syndrome and trisomy 18; and 2,947 (0.7%) for neural tube defects, Smith-Lemli-Opitz syndrome, or for multiple conditions. The detection rates were Down syndrome-92.9% (95% confidence interval [CI] 91.4-94.2); trisomy 18-93.2% (95% CI 90.5-95.9); trisomy 13-80.4% (95% CI 73.9-86.9); 45,X-80.1% (95% CI 73.9-86.3), and triploidy-91.0% (95% CI 84.2-97.9). Overall, the detection rate for chromosome abnormalities was 81.6% (95% CI 80.0-83.1) at an overall false-positive rate of 4.5%.

CONCLUSION

First-trimester and sequential screening are sensitive and specific for the broad range of karyotype abnormalities seen in the population.

LEVEL OF EVIDENCE

II.

摘要

目的

通过孕早期筛查和序贯筛查评估非整倍体的检出率。

方法

该研究纳入了参与加利福尼亚产前筛查项目的单胎妊娠女性，其预计分娩日期在2009年8月至2012年12月之间，且接受了孕早期或孕早期及孕中期（序贯）筛查。从加利福尼亚染色体缺陷登记处确定的目标（21三体和18三体）及其他非整倍体的检出率进行了测量。

结果

在452,901名接受筛查的女性中，17,435名（3.8%）仅唐氏综合征筛查呈阳性；433名（0.1%）仅18三体筛查呈阳性；1,689名（0.4%）唐氏综合征和18三体筛查均呈阳性；2,947名（0.7%）神经管缺陷、史密斯-勒米-奥皮茨综合征或多种情况筛查呈阳性。检出率分别为：唐氏综合征92.9%（95%置信区间[CI]91.4 - 94.2）；18三体93.2%（95%CI 90.5 - 95.9）；13三体80.4%（95%CI 73.9 - 86.9）；45,X 80.1%（95%CI 73.9 - 86.3），以及三倍体91.0%（95%CI 84.2 - 97.9）。总体而言，染色体异常的检出率为81.6%（95%CI 80.0 - 83.1），总体假阳性率为4.5%。