Non-invasive prenatal diagnosis of β-thalassemia by detection of the cell-free fetal DNA in maternal circulation: a systematic review and meta-analysis

The discovery of fetal DNA (f-DNA) opens the possibility of early non-invasive procedure for detection of paternally inherited mutation of beta-thalassemia. Since 2002, some studies have examined the sensitivity and specificity of this method for detection of paternally inherited mutation of thalass...

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Bibliographic Details
Published in:Annals of hematology 2016-08, Vol.95 (8), p.1341-1350
Main Authors: Zafari, Mandana, Kosaryan, Mehrnoush, Gill, Pooria, Alipour, Abbass, Shiran, Mohammadreza, Jalalli, Hossein, Banihashemi, Ali, Fatahi, Fatemeh
Format: Article
Language:English
Subjects:
beta-Thalassemia - blood
beta-Thalassemia - diagnosis
beta-Thalassemia - genetics
Cell-Free System
DNA - blood
DNA - genetics
Female
Fetus - metabolism
Hematology
Humans
Medicine
Medicine & Public Health
Oncology
Pregnancy
Prenatal Diagnosis - methods
Reproducibility of Results
Review Article
Sensitivity and Specificity
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Summary:The discovery of fetal DNA (f-DNA) opens the possibility of early non-invasive procedure for detection of paternally inherited mutation of beta-thalassemia. Since 2002, some studies have examined the sensitivity and specificity of this method for detection of paternally inherited mutation of thalassemia in pregnant women at risk of having affected babies. We conducted a systematic review of published articles that evaluated using this method for early detection of paternally inherited mutation in maternal plasma. A sensitive search of multiple databases was done in which nine studies met our inclusion criteria. The sensitivity and specificity was 99 and 99 %, respectively. The current study found that detection of paternally inherited mutation of thalassemia using analysis of cell-free fetal DNA is highly accurate. This method could replace conventional and invasive methods.
ISSN:0939-5555
1432-0584
DOI:10.1007/s00277-016-2620-3