Open AccessAnalysis 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
Author(s) -
Iwarsson Erik,
Jacobsson Bo,
Dagerhamn Jessica,
Davidson Thomas,
Bernabé Eduardo,
Heibert Arnlind Marianne
Publication year - 2017
Publication title -
acta obstetricia et gynecologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.401
H-Index - 102
eISSN - 1600-0412
pISSN - 0001-6349
DOI - 10.1111/aogs.13047
Subject(s) - trisomy , medicine , population , meta analysis , cochrane library , obstetrics , down syndrome , pregnancy , gynecology , genetics , biology , environmental health , psychiatry
Abstract Introduction The 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 methods Systematic 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. Results In 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). Conclusions This 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.