title: Non-invasive prenatal diagnosis of β-thalassemia by detection of the cell-free fetal DNA in maternal circulation: a systematic review and meta-analysis.
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.
authors.affiliation: Thalassemia Research Center, Hemoglobinopathy Institute, Mazandaran University of Medical Sciences, Valiye Asr Street, Sari, Mazandaran Province, Islamic Republic of Iran.
authors.forename: Mandana
authors.initials: M
authors.lastname: Zafari
authors.affiliation: Thalassemia Research Center, Hemoglobinopathy Institute, Mazandaran University of Medical Sciences, Valiye Asr Street, Sari, Mazandaran Province, Islamic Republic of Iran. mekowsarian@gmail.com.
authors.forename: Mehrnoush
authors.initials: M
authors.lastname: Kosaryan
authors.affiliation: Immunogenetics Research Center, Mazandaran University of Medical Sciences, Sari, Iran.
authors.forename: Pooria
authors.initials: P
authors.lastname: Gill
authors.affiliation: Community Medicine Department, School of Medicine, Baltimore, MD, USA.
authors.forename: Abbass
authors.initials: A
authors.lastname: Alipour
authors.affiliation: Department of Physiology & Pharmacology, School of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.
authors.forename: Mohammadreza
authors.initials: M
authors.lastname: Shiran
authors.affiliation: Thalassemia Research Center, Hemoglobinopathy Institute, Mazandaran University of Medical Sciences, Valiye Asr Street, Sari, Mazandaran Province, Islamic Republic of Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Jalalli
authors.affiliation: Amir Kola Genetic Laboratory, Babol University of Medical Sciences, Sari, Iran.
authors.forename: Ali
authors.initials: A
authors.lastname: Banihashemi
authors.affiliation: Mazandaran University of Medical Sciences, Sari, Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Fatahi
mesh_terms: D002474:Cell-Free System; D004247:DNA / Q000097:blood* / Q000235:genetics; D005260:Female; D005333:Fetus / Q000378:metabolism; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D017086:beta-Thalassemia / Q000097:blood* / Q000175:diagnosis* / Q000235:genetics
chemical_list: D004247:DNA
keywords: Detection of paternally inherited mutation; Maternal plasma; Non-invasive prenatal diagnosis; Thalassemia; f-DNA