Noninvasive prenatal testing for fetal trisomy in a mixed risk factors pregnancy population

ObjectiveThis study assesses the performance of noninvasive prenatal testing (NIPT) for fetal aneuploidies in a mixed risk factors pregnancy population.Materials and methodsData review of 169 pregnant women undergoing prenatal aneuploidy screening in a single tertiary medical center was conducted. Indications included maternal anxiety, advanced maternal age, abnormal nuchal translucency, and high/moderate risk of first trimester Down syndrome screening. Multifetal pregnancies and patients receiving in vitro fertilization were also enrolled for analysis.ResultsA total of 169 patients were enrolled in this study during a time period from July 2012 to June 2014. For patients' ≥ 34 years, anxiety about amniocentesis was the most common reason for patients selecting NIPT for fetal aneuploidy screening, with 107 (88.4%) patients choosing NIPT for this reason. Among the total patient population, two patients showed a positive result from NIPT. One patient displayed 47, XXY, which was confirmed to be a false-positive result. The other patient displayed trisomy 18, which was confirmed by an amniotic cell culture. The sensitivity for NIPT is 100% with the specificity 99.4%.ConclusionsNIPT for fetal aneuploidy in a mixed risk factors pregnancy population showed high accuracy. NIPT applied to the low risk population might reassure the anxious family.