liu.seSearch for publications in DiVA
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
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
Karolinska University Hospital, Sweden.
Gothenburg University, Sweden; Institute Public Heatlh, Norway.
Swedish Agency Health Technology Assessment and Assessment, Sweden.
Linköping University, Department of Medical and Health Sciences, Division of Health Care Analysis. Linköping University, Faculty of Medicine and Health Sciences. Swedish Agency Health Technology Assessment and Assessment, Sweden.
Show others and affiliations
2017 (English)In: Acta Obstetricia et Gynecologica Scandinavica, ISSN 0001-6349, E-ISSN 1600-0412, Vol. 96, no 1Article, review/survey (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
WILEY-BLACKWELL , 2017. Vol. 96, no 1
Keyword [en]
Trisomy; prenatal diagnosis; non-invasive prenatal testing; NIPT; cell-free DNA; cfDNA; fetus; chromosome aberration
National Category
Obstetrics, Gynecology and Reproductive Medicine
Identifiers
URN: urn:nbn:se:liu:diva-134484DOI: 10.1111/aogs.13047ISI: 000391980100002PubMedID: 27779757OAI: oai:DiVA.org:liu-134484DiVA: diva2:1074424
Note

Funding Agencies|Swedish Agency for Health Technology Assessment and Assessment of Social Service (SBU); Stockholm County Council

Available from: 2017-02-15 Created: 2017-02-15 Last updated: 2017-02-15

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Davidson, Thomas
By organisation
Division of Health Care AnalysisFaculty of Medicine and Health Sciences
In the same journal
Acta Obstetricia et Gynecologica Scandinavica
Obstetrics, Gynecology and Reproductive Medicine

Search outside of DiVA

GoogleGoogle Scholar

Altmetric score

Total: 66 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf