Should cell‐free fetal DNA be included in first trimester screening (FTS) for common trisomy? A possible scenario on 6697 women screened over 10 years

摘要: Objective The primary aim was to determine the performance of first trimester screening (FTS) test in a general obstetrics population. Cost-benefit analysis hypothetic model based on implementation FTS by cell-free fetal (cff) DNA calculated. Methods A total 6697 women were screened using test. A two-step strategy upon nuchal translucency, serum and ultrasound assessment nasal bone (NB) applied. Three groups identified (high-risk: >1:250; intermediate-risk: 1:251–1:999 low-risk group: <1:1000). Women at intermediate-risk (1:251–1:999) underwent NB recalculation individual risk. All high-risk offered karyotyping. Results A 321 (4.8%) resulted while 480 (7.1%) with NB, which absent 15 fetuses. Overall, 54 aneuploidies detected for 96.4% sensitivity, 96.1% specificity, 99.9% negative predictive value false positive rate 4.8%. Audit conducted yearly basis lost follow up 0.47% (32 cases). Conclusions Public health system would not be able cover cost including cff undergoing universal basis. However, assuming possible scenario result 6-fold reduction number invasive procedures avoiding two results (trisomy 21) that diagnosed current combined