Alice Proto, Fabienne Trottmann, Sophie Schneider, Sofia Amylidi-Mohr, Florent Badiqué, Lorenz Risch, Daniel Surbek, Luigi Raio, Beatrice Mosimann
{"title":"利用单胎妊娠中的无细胞胎儿 DNA 在怀孕头三个月进行非整倍体的条件性筛查--瑞士单中心的经验。","authors":"Alice Proto, Fabienne Trottmann, Sophie Schneider, Sofia Amylidi-Mohr, Florent Badiqué, Lorenz Risch, Daniel Surbek, Luigi Raio, Beatrice Mosimann","doi":"10.1055/a-2202-5282","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Switzerland was amongst the first countries to offer cell-free fetal DNA (cffDNA) testing covered by the health insurance to pregnant women with a risk ≥ 1:1000 for trisomies at first trimester combined screening (FTCS). The aim of this study is to evaluate the implementation of this contingent model in a single tertiary referral centre and its effect on gestational age at diagnosing trisomy 21.</p><p><strong>Materials and methods: </strong>Between July 2015 and December 2020 all singleton pregnancies at 11-14 weeks of gestation without major fetal malformation were included and stratified according to their risk at FTCS. Statistical analysis was performed by GraphPad Version 9.1 for Windows.</p><p><strong>Results: </strong>4424 pregnancies were included. Of 166 (3.8%) pregnancies with a NT ≥ 3.5 mm and/or a risk ≥ 1:10 at FCTS, 130 (78.3%) opted for direct invasive testing. 803 (18.2%) pregnancies had an intermediate risk, 692 (86.2%) of them opted for cffDNA first. 3455 (78.1%) pregnancies had a risk < 1:1000. 63 fetuses were diagnosed with trisomy 21, 47 (74.6%) directly by invasive procedures after FTCS, 16 (25.4%) by cffDNA first.</p><p><strong>Conclusions: </strong>Most women choose cffDNA or invasive testing as second tier according to national guidelines. Despite the delay associated with cffDNA testing after FCTS, 75% of all trisomy 21 are still diagnosed in the first trimester with this contingent screening model.</p>","PeriodicalId":12481,"journal":{"name":"Geburtshilfe Und Frauenheilkunde","volume":"84 1","pages":"68-76"},"PeriodicalIF":2.4000,"publicationDate":"2024-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10764121/pdf/","citationCount":"0","resultStr":"{\"title\":\"First Trimester Contingent Screening for Aneuploidies with Cell-Free Fetal DNA in Singleton Pregnancies - a Swiss Single Centre Experience.\",\"authors\":\"Alice Proto, Fabienne Trottmann, Sophie Schneider, Sofia Amylidi-Mohr, Florent Badiqué, Lorenz Risch, Daniel Surbek, Luigi Raio, Beatrice Mosimann\",\"doi\":\"10.1055/a-2202-5282\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>Switzerland was amongst the first countries to offer cell-free fetal DNA (cffDNA) testing covered by the health insurance to pregnant women with a risk ≥ 1:1000 for trisomies at first trimester combined screening (FTCS). The aim of this study is to evaluate the implementation of this contingent model in a single tertiary referral centre and its effect on gestational age at diagnosing trisomy 21.</p><p><strong>Materials and methods: </strong>Between July 2015 and December 2020 all singleton pregnancies at 11-14 weeks of gestation without major fetal malformation were included and stratified according to their risk at FTCS. Statistical analysis was performed by GraphPad Version 9.1 for Windows.</p><p><strong>Results: </strong>4424 pregnancies were included. Of 166 (3.8%) pregnancies with a NT ≥ 3.5 mm and/or a risk ≥ 1:10 at FCTS, 130 (78.3%) opted for direct invasive testing. 803 (18.2%) pregnancies had an intermediate risk, 692 (86.2%) of them opted for cffDNA first. 3455 (78.1%) pregnancies had a risk < 1:1000. 63 fetuses were diagnosed with trisomy 21, 47 (74.6%) directly by invasive procedures after FTCS, 16 (25.4%) by cffDNA first.</p><p><strong>Conclusions: </strong>Most women choose cffDNA or invasive testing as second tier according to national guidelines. Despite the delay associated with cffDNA testing after FCTS, 75% of all trisomy 21 are still diagnosed in the first trimester with this contingent screening model.</p>\",\"PeriodicalId\":12481,\"journal\":{\"name\":\"Geburtshilfe Und Frauenheilkunde\",\"volume\":\"84 1\",\"pages\":\"68-76\"},\"PeriodicalIF\":2.4000,\"publicationDate\":\"2024-01-03\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10764121/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Geburtshilfe Und Frauenheilkunde\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1055/a-2202-5282\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Geburtshilfe Und Frauenheilkunde","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1055/a-2202-5282","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
First Trimester Contingent Screening for Aneuploidies with Cell-Free Fetal DNA in Singleton Pregnancies - a Swiss Single Centre Experience.
Introduction: Switzerland was amongst the first countries to offer cell-free fetal DNA (cffDNA) testing covered by the health insurance to pregnant women with a risk ≥ 1:1000 for trisomies at first trimester combined screening (FTCS). The aim of this study is to evaluate the implementation of this contingent model in a single tertiary referral centre and its effect on gestational age at diagnosing trisomy 21.
Materials and methods: Between July 2015 and December 2020 all singleton pregnancies at 11-14 weeks of gestation without major fetal malformation were included and stratified according to their risk at FTCS. Statistical analysis was performed by GraphPad Version 9.1 for Windows.
Results: 4424 pregnancies were included. Of 166 (3.8%) pregnancies with a NT ≥ 3.5 mm and/or a risk ≥ 1:10 at FCTS, 130 (78.3%) opted for direct invasive testing. 803 (18.2%) pregnancies had an intermediate risk, 692 (86.2%) of them opted for cffDNA first. 3455 (78.1%) pregnancies had a risk < 1:1000. 63 fetuses were diagnosed with trisomy 21, 47 (74.6%) directly by invasive procedures after FTCS, 16 (25.4%) by cffDNA first.
Conclusions: Most women choose cffDNA or invasive testing as second tier according to national guidelines. Despite the delay associated with cffDNA testing after FCTS, 75% of all trisomy 21 are still diagnosed in the first trimester with this contingent screening model.
期刊介绍:
Geburtshilfe und Frauenheilkunde (GebFra) addresses the whole field of obstetrics and gynecology and is concerned with research as much as with clinical practice. In its scientific section, it publishes original articles, reviews and case reports in all fields of the discipline, namely
gynecological oncology, including oncology of the breast
obstetrics and perinatal medicine,
reproductive medicine,
and urogynecology.
GebFra invites the submission of original articles and review articles.
In addition, the journal publishes guidelines, statements and recommendations in cooperation with the DGGG, SGGG, OEGGG and the Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften (AWMF, Association of Scientific Medical Societies, www.awmf.org). Apart from the scientific section, Geburtshilfe und Frauenheilkunde has a news and views section that also includes discussions, book reviews and professional information.
Letters to the editors are welcome. If a letter discusses an article that has been published in our journal, the corresponding author of the article will be informed and invited to comment on the letter. The comment will be published along with the letter.