The genetic sonogram in screening for Down syndrome: response to the JAMA study.
The genetic sonogram in screening for Down syndrome: response to the JAMA study.
复制标题
筛查唐氏综合症的遗传超声图：对《美国医学会杂志》研究的回应。
DOI：
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发表时间：
2001
影响因子：
2.3
通讯作者：
D. Lezotte
中科院分区：
文献类型：
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作者：
J. Hobbins;R. Bahado;D. Lezotte
由Alfred Z提供帮助。Abuhamad，医学博士，Beryl R. Benacerraf，MD，Dru E. Carlson，MD，约书亚A. Copel，MD，Greggory R. DeVore，MD，Harris J. Finberg，MD，Lyndon M. Hill，MD，大卫A. Nyberg，MD，韦恩H. Persutte，BS，RDMS，Lawrence D. Platt，MD，Manuel波尔图，MD，Ilan Timor-Tritsch，MD，Anthony M. Vintzileos，MD和道格拉斯威尔逊，MD。在2001年2月28日出版的JAMA上，Smith-Bindman等人发表了一篇题为“SecondTrimester Ultrasound to Detect Fetuses With Down Syndrome：A Meta-analysis”的文章。作者总结了文献中的59项前瞻性和回顾性研究，其中有关于唐氏综合征（DS）超声标记物的数据，如脉络丛囊肿、颈部皮褶厚度（NSFT）、心内回声灶、肠回声和肾盂扩张。此外，还对肱骨和股骨长度的生物测量值进行了评价。从分析中排除结构异常。只有那些完全确定结果的研究才被纳入本研究。根据严格的标准，数据可用于分析1930例受胎儿DS影响的妊娠和130，363例未受影响的妊娠。作者在荟萃分析中报告了所有患者的平均年龄为34岁，88%的研究是在染色体异常风险增加的女性中进行的，因为高龄产妇、血清检测结果异常或染色体异常家族史。最好的表现是颈部皮肤褶皱厚度，其阳性似然比为17。然而，作者计算出，尽管风险增加了17倍，但“15，893名平均风险患者和6818名高风险患者需要对每例胎儿DS进行筛查。此外，他们还得出结论，其余的DS标记单独的产量很低，它们对DS的风险只有轻微的影响。最后，由于仅在少数受影响的胎儿中检测到标记物，作者得出结论，在正常检查结果后，DS的可能性并未显著降低。
Assistance was provided by Alfred Z. Abuhamad, MD, Beryl R. Benacerraf, MD, Dru E. Carlson, MD, Joshua A. Copel, MD, Greggory R. DeVore, MD, Harris J. Finberg, MD, Lyndon M. Hill, MD, David A. Nyberg, MD, Wayne H. Persutte, BS, RDMS, Lawrence D. Platt, MD, Manuel Porto, MD, Ilan Timor-Tritsch, MD, Anthony M. Vintzileos, MD, and Douglas Wilson, MD. n the February 28, 2001, issue of JAMA, an article appeared by Smith-Bindman et al1 entitled, “SecondTrimester Ultrasound to Detect Fetuses With Down Syndrome: A Meta-analysis.” The authors summarized 59 prospective and retrospective studies from the literature in which there were data on ultrasonographic markers for Down syndrome (DS), such as choroid plexus cyst, nuchal skin fold thickness (NSFT), echogenic intracardiac focus, echogenic bowel, and renal pyelectasis. In addition, the biometric measurements, humeral and femur length, were evaluated. Structural abnormalities were excluded from the analysis. Only those studies with complete ascertainment of outcome were included in the study. On the basis of rigorous criteria, data were available for analysis of 1930 pregnancies affected by fetal DS and 130,363 unaffected pregnancies. The authors reported an average age among all patients in the meta-analysis of 34 years, and 88% of the studies were performed on women at increased risk of chromosomal abnormalities because of advanced maternal age, abnormal serum test results, or family history of chromosomal abnormalities. The best performer was nuchal skin fold thickness, which had a positive likelihood ratio of 17. However, the authors calculated that, despite this large 17-fold increase in risk, “15,893 average-risk patients and 6818 high-risk patients would require screening for each case of fetal DS identified.” Also, they concluded that the rest of the DS markers were of such low yield in isolation that they had only “marginal impact on the risk of DS.” Last, because the markers were detected in only a small number of affected fetuses, the authors concluded that the likelihood of DS did not decrease substantially after normal examination findings.