Francesco Padula, Pietro Cignini, Diana Giannarelli, Cristiana Brizzi, Claudio Coco, Laura D'Emidio, Elsa Giorgio, Maurizio Giorlandino, Lucia Mangiafico, Marialuisa Mastrandrea, Vincenzo Milite, Luisa Mobili, Cinzia Nanni, Raffaella Raffio, Cinzia Taramanni, Roberto Vigna, Alvaro Mesoraca, Domenico Bizzoco, Ivan Gabrielli, Gianluca Di Giacomo, Maria Antonietta Barone, Antonella Cima, Francesca Romana Giorlandino, Sabrina Emili, Marina Cupellaro, Claudio Giorlandino
{"title":"回顾性研究评估在意大利未选择人群中妊娠早期联合筛查21三体的表现。","authors":"Francesco Padula, Pietro Cignini, Diana Giannarelli, Cristiana Brizzi, Claudio Coco, Laura D'Emidio, Elsa Giorgio, Maurizio Giorlandino, Lucia Mangiafico, Marialuisa Mastrandrea, Vincenzo Milite, Luisa Mobili, Cinzia Nanni, Raffaella Raffio, Cinzia Taramanni, Roberto Vigna, Alvaro Mesoraca, Domenico Bizzoco, Ivan Gabrielli, Gianluca Di Giacomo, Maria Antonietta Barone, Antonella Cima, Francesca Romana Giorlandino, Sabrina Emili, Marina Cupellaro, Claudio Giorlandino","doi":"","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>to assess the performance of a combined first-trimester screening for trisomy 21 in an unselected Italian population referred to a specialized private center for prenatal medicine.</p><p><strong>Methods: </strong>a retrospective validation of first-trimester screening algorithms [risk calculation based on maternal age and nuchal translucency (NT) alone, maternal age and serum parameters (free β-hCG and PAPP-A) alone and a combination of both] for fetal aneuploidies evaluated in an unselected Italian population at Artemisia Fetal-Maternal Medical Centre in Rome. All measurements were performed between 11(+0) and 13(+6) weeks of gestation, between April 2007 and December 2008.</p><p><strong>Results: </strong>of 3,610 single fetuses included in the study, we had a complete follow-up on 2,984. Fourteen of 17 cases of trisomy 21 were detected when a cut-off of 1:300 was applied [detection rate (DR) 82.4%, 95% confidence interval (CI) 64.2-100; false-positive rate (FPR) 4.7%, 95% CI 3.9-5.4; false-negative rate (FNR) 17.6%, 95% CI 0-35.8%].</p><p><strong>Conclusion: </strong>in our study population the detection rate for trisomy 21, using the combined risk calculation based on maternal age, fetal NT, maternal PAPP-A and free β-hCG levels, was superior to the application of either parameter alone. The algorithm has been validated for first trimester screening in the Italian population.</p>","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"8 3-4","pages":"50-6"},"PeriodicalIF":0.0000,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510564/pdf/50-56.pdf","citationCount":"0","resultStr":"{\"title\":\"Retrospective study evaluating the performance of a first-trimester combined screening for trisomy 21 in an Italian unselected population.\",\"authors\":\"Francesco Padula, Pietro Cignini, Diana Giannarelli, Cristiana Brizzi, Claudio Coco, Laura D'Emidio, Elsa Giorgio, Maurizio Giorlandino, Lucia Mangiafico, Marialuisa Mastrandrea, Vincenzo Milite, Luisa Mobili, Cinzia Nanni, Raffaella Raffio, Cinzia Taramanni, Roberto Vigna, Alvaro Mesoraca, Domenico Bizzoco, Ivan Gabrielli, Gianluca Di Giacomo, Maria Antonietta Barone, Antonella Cima, Francesca Romana Giorlandino, Sabrina Emili, Marina Cupellaro, Claudio Giorlandino\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objectives: </strong>to assess the performance of a combined first-trimester screening for trisomy 21 in an unselected Italian population referred to a specialized private center for prenatal medicine.</p><p><strong>Methods: </strong>a retrospective validation of first-trimester screening algorithms [risk calculation based on maternal age and nuchal translucency (NT) alone, maternal age and serum parameters (free β-hCG and PAPP-A) alone and a combination of both] for fetal aneuploidies evaluated in an unselected Italian population at Artemisia Fetal-Maternal Medical Centre in Rome. All measurements were performed between 11(+0) and 13(+6) weeks of gestation, between April 2007 and December 2008.</p><p><strong>Results: </strong>of 3,610 single fetuses included in the study, we had a complete follow-up on 2,984. Fourteen of 17 cases of trisomy 21 were detected when a cut-off of 1:300 was applied [detection rate (DR) 82.4%, 95% confidence interval (CI) 64.2-100; false-positive rate (FPR) 4.7%, 95% CI 3.9-5.4; false-negative rate (FNR) 17.6%, 95% CI 0-35.8%].</p><p><strong>Conclusion: </strong>in our study population the detection rate for trisomy 21, using the combined risk calculation based on maternal age, fetal NT, maternal PAPP-A and free β-hCG levels, was superior to the application of either parameter alone. The algorithm has been validated for first trimester screening in the Italian population.</p>\",\"PeriodicalId\":89592,\"journal\":{\"name\":\"Journal of prenatal medicine\",\"volume\":\"8 3-4\",\"pages\":\"50-6\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2014-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510564/pdf/50-56.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of prenatal medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of prenatal medicine","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
摘要
目的:评估在未选择的意大利人群中进行21三体联合妊娠早期筛查的表现，这些人群转介到专门的私人产前医学中心。方法:回顾性验证在罗马的Artemisia胎母医疗中心对未选择的意大利人群中评估的胎儿非整倍体的妊娠早期筛查算法[基于母亲年龄和颈部透明度(NT)单独、母亲年龄和血清参数(游离β-hCG和pap - a)单独或两者结合的风险计算]。所有测量均在妊娠11(+0)至13(+6)周，即2007年4月至2008年12月期间进行。结果:在3610例纳入研究的单胎中，我们对2984例进行了完整的随访。17例21三体中有14例在1:30 00的临界值下被检出[检出率(DR) 82.4%， 95%可信区间(CI) 64.2-100;假阳性率(FPR) 4.7%， 95% CI 3.9 ~ 5.4;假阴性率(FNR) 17.6%， 95% CI 0 ~ 35.8%]。结论:在我们的研究人群中，采用基于母亲年龄、胎儿NT、母亲PAPP-A和游离β-hCG水平的联合风险计算21三体的检出率优于单独使用任何参数。该算法已在意大利人群的妊娠早期筛查中得到验证。
Retrospective study evaluating the performance of a first-trimester combined screening for trisomy 21 in an Italian unselected population.
Objectives: to assess the performance of a combined first-trimester screening for trisomy 21 in an unselected Italian population referred to a specialized private center for prenatal medicine.
Methods: a retrospective validation of first-trimester screening algorithms [risk calculation based on maternal age and nuchal translucency (NT) alone, maternal age and serum parameters (free β-hCG and PAPP-A) alone and a combination of both] for fetal aneuploidies evaluated in an unselected Italian population at Artemisia Fetal-Maternal Medical Centre in Rome. All measurements were performed between 11(+0) and 13(+6) weeks of gestation, between April 2007 and December 2008.
Results: of 3,610 single fetuses included in the study, we had a complete follow-up on 2,984. Fourteen of 17 cases of trisomy 21 were detected when a cut-off of 1:300 was applied [detection rate (DR) 82.4%, 95% confidence interval (CI) 64.2-100; false-positive rate (FPR) 4.7%, 95% CI 3.9-5.4; false-negative rate (FNR) 17.6%, 95% CI 0-35.8%].
Conclusion: in our study population the detection rate for trisomy 21, using the combined risk calculation based on maternal age, fetal NT, maternal PAPP-A and free β-hCG levels, was superior to the application of either parameter alone. The algorithm has been validated for first trimester screening in the Italian population.
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