Analysis of the distribution shift of detected aneuploidies by age independent first trimester screening

Abstract

When excluding the maternal age from risk calculation, the detection of aneuploidies showed a shift from older to younger women. Overall, the detection rate did not change significantly. However, the false positive rate was 25% lower with the exclusion of maternal age.

Age independent first trimester screening for Down syndrome: improvement in test performance

“…In the other DS cases, detection was not affected by the risk method used, because the serum marker and NT values were discriminatory enough to detect them. Our results are in agreement with other studies . The overall uptake of the FCT in our country is low at about 30%, but it includes a relatively high percentage of pregnancies at risk, because of the unexpected finding of increased NT at a dating scan in the first trimester, explaining the relatively high prevalence rate of DS of 0.45%.…”

“…Our results are in agreement with other studies. [16][17][18] The overall uptake of the FCT in our country is low at about 30%, 21,22 but it includes a relatively high percentage of pregnancies at risk, because of the unexpected finding of increased NT at a dating scan in the first trimester, explaining the relatively high prevalence rate of DS of 0.45%.…”

“…[12][13][14][15] It has been suggested that elimination of background maternal age risk from the algorithm might improve screening performance. [16][17][18] Schmidt et al analyzed the advanced first trimester screening method based on a relative risk. 17 Gebb and Dar used the absolute risk (AR) method defined as final first trimester risk divided by maternal age risk.…”

“…[16][17][18] Schmidt et al analyzed the advanced first trimester screening method based on a relative risk. 17 Gebb and Dar used the absolute risk (AR) method defined as final first trimester risk divided by maternal age risk. A cut-off of AR >1.2 was shown to result in the best screening performance.…”

Age‐based differences in the predictive accuracy of a one‐size‐fits‐all risk‐cutoff value in prenatal integrated screening for Down syndrome

“…The purpose of this study is to assess the variation in DR and FPR (and hence, the undetected DS live births and euploid procedure‐related fetal losses) across different age groups when a one‐size‐fits‐all risk‐cutoff value, such as 1/270, is used in integrated screening for DS. Prior research acknowledged variations in age‐related DR and FPR in the context of first‐trimester and/or second‐trimester testing. Among them, Yan et al .…”