title: Noninvasive prenatal diagnosis experience in the Çukurova Region of Southern Turkey: detecting paternal mutations of sickle cell anemia and β-thalassemia in cell-free fetal DNA using high-resolution melting analysis.
abstract: OBJECTIVE
  This study used a high-resolution melting (HRM) technique to detect paternal mutations for the noninvasive prenatal diagnosis (NIPD) of β-thalassemia and sickle cell anemia (HbS). We also determined the levels of cell-free fetal DNA and total cell-free DNA.
  
  
  METHODS
  We used the HRM technique for fetal genotyping of paternal mutations in maternal plasma from 32 pregnancies at risk of β-thalassemia and 57 pregnancies at risk of HbS. The DNA levels in maternal plasma were measured using real-time quantitative PCR. Multiples of the median (MoM) values were calculated in women at risk for β-thalassemia or HbS.
  
  
  RESULTS
  Twenty-two paternal mutations were detected in 89 pregnant women. Although we were successfully able to detect the paternal β-thalassemia mutations, the mutant HbS fetuses could not be distinguished from maternal background in the early weeks of pregnancy. The detection of DYS14 in male fetuses was 100%. The MoM values of women at high risk of having HbS-affected fetuses were higher than those for the other groups.
  
  
  CONCLUSIONS
  High-resolution melting is a useful method for NIPD of β-thalassemias by detecting paternal mutations in the maternal plasma. Cell-free fetal DNA quantification and MoM values were not informative for HbS or β-thalassemias in early pregnancy.
authors.affiliation: Çukurova University, Faculty of Medicine, Department of Medical Biochemistry, Adana, Turkey.
authors.forename: Ebru Dündar
authors.initials: ED
authors.lastname: Yenilmez
authors.forename: Abdullah
authors.initials: A
authors.lastname: Tuli
authors.forename: I Cüneyt
authors.initials: IC
authors.lastname: Evrüke
mesh_terms: D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000175:diagnosis* / Q000235:genetics; D002474:Cell-Free System; D004247:DNA / Q000032:analysis / Q000378:metabolism; D004252:DNA Mutational Analysis / Q000379:methods*; D005220:Fathers; D005260:Female; D005333:Fetus / Q000378:metabolism; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008297:Male; D062145:Maternal Serum Screening Tests / Q000379:methods; D009691:Nucleic Acid Denaturation / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014421:Turkey; D055815:Young Adult; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics
chemical_list: D004247:DNA