• Comparison of Noninvasive Prenatal testing of Cell‐free DNA in Maternal Blood and Amniocentesis for Evaluation of Aneuploidy
  • Meisam Akhlaghdoust,1,*
    1. Pars Advanced and Minimally Invasive Medical Manners Research Center, Pars Hospital, Iran University of Medical Sciences, Tehran, Iran


  • Introduction: To evaluate test accuracy and specificity of non-invasive prenatal testing (NIPT) for detection of Down, Edwards and Patau syndromes and comparing with gold standard test amniocentesis
  • Methods: This cross sectional study performed on Iranian pregnant women (GA≥12 weeks) and candidate for amniocentesis test that referred to the Nilou laboratory in Tehran and 16 provenances of Iran between Aug 2016 and Aug 2018. The criteria for nominating individuals to perform the NIPT test were selected according to the 2015 ACOG and SMFM hotlines. Collected 10 cc of peripheral blood of pregnant women for NIPT test. Analysis study was performed by SPSS version 21 and significant level consider P value <0.5.
  • Results: Finally 11960 pregnant women which candidate for amniocentesis enrolled in this study and 139 persons detected for high risk for NIPT. The mean age of participants was respectively in amniocentesis and NIPT was 33.7 ± 6.4 and 34.4 ± 5.2 Age (Mean ± SD). Specificity of NIPT (T21, T18 and T13) was 99.94%, 99.95% and 99.97%. Also Failure rate calculated 0.27.
  • Conclusion: Non-invasive prenatal testing has very high sensitivity and specificity for aneuploidies but should not be used as a final diagnosis test.
  • Keywords: Amniocentesis, NIPT, cell-free fetal DNA, Aneuploidies