Accuracy of Non-Invasive Prenatal Testing for detection of Down, Edwards and Patau syndromes

Introduction: To evaluate test accuracy and specificity of non-invasive prenatal testing (NIPT) for detection of Down, Edwards and Patau syndromes. Methods: This cross sectional study performed on 360 Iranian pregnant women referred to the first and second trimester of pregnancy for NIPT testing to Nilou laboratory between Aug 2015 and Aug 2018. The criteria for nominating individuals to perform the NIPT test were selected according to the 2015 ACOG and SMFM hotlines. All patients who were positive in this protocol were candidates for amniocentesis. Pregnancy over twins, Vanishing twins, NT above 3 mm, structural abnormalities in ultrasound, malignancy in the mother, fetal age less than 10W + 0D and false positive cases were excluded from the study. Analysis study was performed by SPSS version 16. Results: 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. Conclusions: Non-invasive prenatal testing has very high sensitivity and specificity for aneuploidies but should not be used as a final diagnosis test.

کلیدواژه ها:

Amniocentesis ، NIPT ، cell-free fetal DNA ، Aneuploidies