Value of Non-invasive Prenatal Test (NIPT) for comprehensive fetal aneuploidies screening

The expanded NIPT for screening all fetal chromosomal aneuploidies has been widely used in clinical practice. The study was conducted on 6,104 pregnant women performing this test at Medlatec General Hospital to evaluate the values of NIPT. Sensitivity and negative predictive value reach 100%, and specificity reaches over 99.8%. The positive predictive values for trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidies, and rare chromosome aneuploidies are 88.89%, 62.50%; 50.00%; 36.67%, and 0%, respectively. Among rare chromosome aneuploidies, trisomy 2, 4, 9, 15, 16, and 22 are reported to have adverse outcomes, while trisomy 3, 7, 8, and 20 reported no cases. Therefore, the NIPT can potentially predict adverse pregnancy outcomes for rare chromosome aneuploidies.