title: Cell-free fetal DNA in amniotic fluid supernatant for prenatal diagnosis.
abstract: In widespread conviction, amniotic fluid is utilized for prenatal diagnosis. Amniotic fluid supernatant is usually discarded, notwithstanding being a good source of fetal DNA. The aim of the present study was to assess cell-free fetal DNA extracted from amniotic fluid supernatant for application in prenatal diagnosis such as gender determination and early diagnosis of β-thalassemia. Samples of amniotic fluid of 70 pregnant women were collected and went through routine tests along with tests for cell-free fetal DNA from amniotic fluid supernatant. The DNA in the amniotic fluid supernatant was extracted and analyzed for gender determination by PCR and Real-time PCR. ARMS-PCR was applied to test early diagnosis of IVS II-I mutation (common β-thalassemia mutation) and E7V mutation for sickle cell anemia using DNA extracted from the amniotic fluid supernatant. Using the cell-free fetal DNA extracted from the amniotic fluid supernatant, the sensitivity of PCR and Real-time PCR for gender detection was compared with the routine cytogenetic method. The fetus tested for sickle cell anemia and β-thalassemia was observed to be healthy but heterozygous for IVS II-I mutation. The findings indicated that cell-free fetal DNA from amniotic fluid supernatant can be a good source of fetal DNA and be used in early prenatal diagnosis since because of its fast and accurate application. Therefore, it would be suggested that the amniotic fluid supernatant's disposal is prevented because if the tests needs to be repeated, cell-free fetal DNA extracted from the amniotic fluid supernatant can be used as an alternative source for prenatal diagnosis.
authors.affiliation: Islamic Azad University Department of Genetics, Ahar Branch Ahar Iran.
authors.forename: M
authors.initials: M
authors.lastname: Soltani
authors.affiliation: Tabriz University of Medical Sciences Tabriz Genetic Analysis Center (TGAC) Tabriz Iran.
authors.forename: M
authors.initials: M
authors.lastname: Nemati
authors.affiliation: Health Science Institute Department of Molecular Medicine Izmir Turkey.
authors.forename: M
authors.initials: M
authors.lastname: Maralani
authors.affiliation: Tehran University of Medical Sciences Students' Scientific Research Center Tehran Iran.
authors.forename: M A
authors.initials: MA
authors.lastname: Estiar
authors.affiliation: Guilan University of Medical Sciences Department of Neurosurgery, Poursina Hospital, School of Medicine Rasht Iran.
authors.forename: S
authors.initials: S
authors.lastname: Andalib
authors.affiliation: Tabriz University of Medical Sciences Women's Reproductive Health Research Center, Tabriz Iran.
authors.forename: Z
authors.initials: Z
authors.lastname: Fardiazar
authors.affiliation: Tabriz University of Medical Sciences Tuberculosis and Lung Disease Research Center Tabriz Iran esakhinia@yahoo.co.uk.
authors.forename: E
authors.initials: E
authors.lastname: Sakhinia
mesh_terms: D000653:Amniotic Fluid / Q000378:metabolism*; D000755:Anemia, Sickle Cell / Q000175:diagnosis / Q000235:genetics; D001483:Base Sequence; D002474:Cell-Free System; D004247:DNA / Q000032:analysis*; D004587:Electrophoresis, Agar Gel; D005260:Female; D006579:Heterozygote; D006801:Humans; D017354:Point Mutation / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D060888:Real-Time Polymerase Chain Reaction; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics
chemical_list: D004247:DNA