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

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Abstract

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.

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Acknowledgments

Many thanks for all persons who help us for the preparation this review paper. The funding of this research is supported by Mazandaran University of Medical Science.

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Authors and Affiliations

  1. Thalassemia Research Center, Hemoglobinopathy Institute, Mazandaran University of Medical Sciences, Valiye Asr Street, Sari, Mazandaran Province, Islamic Republic of Iran

    Mandana Zafari, Mehrnoush Kosaryan & Hossein Jalalli

  2. Immunogenetics Research Center, Mazandaran University of Medical Sciences, Sari, Iran

    Pooria Gill

  3. Community Medicine Department, School of Medicine, Baltimore, MD, USA

    Abbass Alipour

  4. Department of Physiology & Pharmacology, School of Medicine, Mazandaran University of Medical Sciences, Sari, Iran

    Mohammadreza Shiran

  5. Amir Kola Genetic Laboratory, Babol University of Medical Sciences, Sari, Iran

    Ali Banihashemi

  6. Mazandaran University of Medical Sciences, Sari, Iran

    Fatemeh Fatahi

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  1. Mandana Zafari
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  2. Mehrnoush Kosaryan
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  3. Pooria Gill
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Correspondence to Mehrnoush Kosaryan.

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This study was funded by Mazandaran University of Medical Science.

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Zafari, M., Kosaryan, M., Gill, P. et al. Non-invasive prenatal diagnosis of β-thalassemia by detection of the cell-free fetal DNA in maternal circulation: a systematic review and meta-analysis. Ann Hematol 95, 1341–1350 (2016). https://doi.org/10.1007/s00277-016-2620-3

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