دورية أكاديمية
Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening
| العنوان: | Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening |
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| المؤلفون: | Miltoft, Caroline Borregaard, Wulff, Camilla B, Kjærgaard, Susanne, Ekelund, Charlotte K., Tabor, Ann, Zingenberg, Helle, Jørgensen, Finn Stener, Shalmi, Anne-Cathrine, Thagaard, Ida Näslund, Skibsted, Lillian, Hessellund, Anette, Sperling, Lene Søndergaard, Mogensen, Helle, Ibsen, Mette, Brendstrup, Lene, Petersen, Olav Bjørn, Jensen, Hanne Søndergaard, Vase, Laura, Østergaard, Marianne, Kamper, Christina H., Sørensen, Anne, Størup, Birgitte |
| المصدر: | Miltoft , C B , Wulff , C B , Kjærgaard , S , Ekelund , C K , Tabor , A , Zingenberg , H , Jørgensen , F S , Shalmi , A-C , Thagaard , I N , Skibsted , L , Hessellund , A , Sperling , L S , Mogensen , H , Ibsen , M , Brendstrup , L , Petersen , O B , Jensen , H S , Vase , L , Østergaard , M , Kamper , C H , Sørensen , A , Størup , B & the Danish .... |
| سنة النشر: | 2017 |
| المجموعة: | Aarhus University: Research |
| مصطلحات موضوعية: | Chromosomal abnormalities, Diagnosis, Down syndrome, First trimester, Pregnancy outcome, Pregnancy termination, Prenatal diagnosis, Prenatal screening, Screening, Trisomy 21 |
| الوصف: | Introduction: The aim was to investigate the parental decisions about prenatal screening and diagnosis among infants with trisomy 21 (T21) in a national cohort with high uptake of combined first-trimester screening (cFTS). Material and Methods: This was a nationwide population-based study including infants born in 2009-2012. Information from the cFTS, fetal karyotype results and pregnancy outcome was obtained from the Danish Fetal Medicine Database on all women with a cFTS risk assessment. Cut-off for referral for invasive testing was ≥1:300. Karyotype results from pregnancies with no cFTS were obtained from the Danish Cytogenetic Central Registry. Results: The uptake rate of cFTS was 91.6%, and 82.8% (8,032/9,704) of the screen-positive women opted for invasive testing. Overall, 82.2% (454/552) chose to terminate an affected pregnancy. In the 4-year period, 102 of 232,962 singletons were born alive with T21. The cFTS risk was true-positive, false-negative or not obtained in 21.6, 48.0 and 30.4%, respectively, of these pregnancies. Discussion: In this large national cohort, 4.4 per 10,000 live-born infants had T21. Of 102 infants with T21 from 2009 to 2012, 52.0% were born after the women had not opted for cFTS or were true-positive but declined invasive testing or termination, and 48.0% were born after a false-negative risk assessment. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1159/000448093 |
| الإتاحة: | https://doi.org/10.1159/000448093Test https://pure.au.dk/portal/da/publications/parental-decisions-about-prenatal-screening-and-diagnosis-among-infants-with-trisomy-21-in-a-national-cohort-with-high-uptake-of-combined-firsttrimester-screeningTest(e9f8ed91-a94d-43ef-b124-523e28b46d6d).html http://www.scopus.com/inward/record.url?scp=84980315442&partnerID=8YFLogxKTest |
| حقوق: | info:eu-repo/semantics/restrictedAccess |
| رقم الانضمام: | edsbas.87E1E9CB |
| قاعدة البيانات: | BASE |
| DOI: | 10.1159/000448093 |
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