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Analysis of cell-fr...
Analysis of cell-free fetal DNA in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population - a systematic review and meta-analysis
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- Iwarsson, Erik (författare)
- Karolinska Institutet
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- Jacobsson, Bo, 1960 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för obstetrik och gynekologi,Institute of Clinical Sciences, Department of Obstetrics and Gynecology
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- Dagerhamn, Jessica (författare)
- Swedish Agency Health Technology Assessment and Assessment, Sweden
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- Davidson, Thomas (författare)
- Linköpings universitet,Avdelningen för hälso- och sjukvårdsanalys,Medicinska fakulteten,Swedish Agency Health Technology Assessment and Assessment, Sweden
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- Bernabe, Eduardo (författare)
- Kings Coll and St Thomas Hospital, England
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- Heibert Arnlind, Marianne (författare)
- Karolinska Institute, Sweden
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(creator_code:org_t)
- 2016-12-09
- 2017
- Engelska.
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Ingår i: Acta Obstetricia et Gynecologica Scandinavica. - : WILEY-BLACKWELL. - 0001-6349 .- 1600-0412. ; 96:1
- Relaterad länk:
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https://kclpure.kcl....
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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https://gup.ub.gu.se...
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Abstract
Ämnesord
Stäng
- IntroductionThe aim of this study was to review the performance of non-invasive prenatal testing (NIPT) for detection of trisomy 21, 18 and 13 (T21, T18 and T13) in a general pregnant population as well as to update the data on high-risk pregnancies. Material and methodsSystematic review and meta-analysis. PubMed, Embase and the Cochrane Library were searched. Methodological quality was rated using QUADAS and scientific evidence using GRADE. Summary measures of diagnostic accuracy were calculated using a bivariate random-effects model. ResultsIn a general pregnant population, there is moderate evidence that the pooled sensitivity is 0.993 (95% CI 0.955-0.999) and specificity was 0.999 (95% CI 0.998-0.999) for the analysis of T21. Pooled sensitivity and specificity for T13 and T18 was not calculated in this population due to the low number of studies. In a high-risk pregnant population, there is moderate evidence that the pooled sensitivities for T21 and T18 are 0.998 (95% CI 0.981-0.999) and 0.977 (95% CI 0.958-0.987) respectively, and low evidence that the pooled sensitivity for T13 is 0.975 (95% CI 0.819-0.997). The pooled specificity for all three trisomies is 0.999 (95% CI 0.998-0.999). ConclusionsThis is the first meta-analysis using GRADE that shows that NIPT performs well as a screen for trisomy 21 in a general pregnant population. Although the false positive rate is low compared with first trimester combined screening, women should still be advised to confirm a positive result by invasive testing if termination of pregnancy is under consideration.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Reproduktionsmedicin och gynekologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Obstetrics, Gynaecology and Reproductive Medicine (hsv//eng)
Nyckelord
- Trisomy; prenatal diagnosis; non-invasive prenatal testing; NIPT; cell-free DNA; cfDNA; fetus; chromosome aberration
Publikations- och innehållstyp
- ref (ämneskategori)
- for (ämneskategori)
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