TY - JOUR
T1 - Diagnostic accuracy of noninvasive detection of fetal trisomy 21 in maternal blood
T2 - A systematic review
AU - Verweij, E. J.
AU - Van Den Oever, J. M.E.
AU - De Boer, M. A.
AU - Boon, E. M.J.
AU - Oepkes, D.
PY - 2012/3
Y1 - 2012/3
N2 - Background: Both pregnant women and providers of obstetric care are aware of the rapid advances in noninvasive prenatal diagnosis (NIPD) of fetal trisomies, and appear to look forward to its clinical introduction. Objectives: To review and critically assess the published literature on diagnostic accuracy of NIPD using cell-free fetal DNA or RNA in maternal blood to detect fetal trisomy 21. Method: An electronic search was performed in MEDLINE, EMBASE and the Cochrane library (1997 to April 2011). Of a total of 201 citations, 9 studies were eligible for full-text analysis by 2 independent reviewers, using the QUADAS tool. Results: Two of the 9 analyzed studies complied with the criteria of the QUADAS tool. Combining the selected 2 studies, with a total of 681 pregnancies included, overall sensitivity was 125/125 (100%, 95% CI 97.5-100%) and specificity 552/556 (99.3%, 95% CI 98.7-99.3%). Conclusions: NIPD of fetal trisomy 21, using fetal nucleic acids in maternal plasma, appears to have a high diagnostic accuracy. Large-scale prospective studies are awaited before implementation in clinical practice.
AB - Background: Both pregnant women and providers of obstetric care are aware of the rapid advances in noninvasive prenatal diagnosis (NIPD) of fetal trisomies, and appear to look forward to its clinical introduction. Objectives: To review and critically assess the published literature on diagnostic accuracy of NIPD using cell-free fetal DNA or RNA in maternal blood to detect fetal trisomy 21. Method: An electronic search was performed in MEDLINE, EMBASE and the Cochrane library (1997 to April 2011). Of a total of 201 citations, 9 studies were eligible for full-text analysis by 2 independent reviewers, using the QUADAS tool. Results: Two of the 9 analyzed studies complied with the criteria of the QUADAS tool. Combining the selected 2 studies, with a total of 681 pregnancies included, overall sensitivity was 125/125 (100%, 95% CI 97.5-100%) and specificity 552/556 (99.3%, 95% CI 98.7-99.3%). Conclusions: NIPD of fetal trisomy 21, using fetal nucleic acids in maternal plasma, appears to have a high diagnostic accuracy. Large-scale prospective studies are awaited before implementation in clinical practice.
KW - Down syndrome
KW - Maternal blood
KW - Noninvasive prenatal diagnosis
KW - Screening
KW - Trisomy 21
UR - http://www.scopus.com/inward/record.url?scp=84858996474&partnerID=8YFLogxK
U2 - https://doi.org/10.1159/000333060
DO - https://doi.org/10.1159/000333060
M3 - Review article
C2 - 22094923
SN - 1015-3837
VL - 31
SP - 81
EP - 86
JO - Fetal Diagnosis and Therapy
JF - Fetal Diagnosis and Therapy
IS - 2
ER -