Trisomy 21 screening based on first and second trimester in a Taiwanese population

This study investigates the performance of first- and second-trimester screening tests for detecting fetal trisomy 21 in a Taiwanese population.

This multicenter study 29,137 cases enrolled the chromosomal abnormality screening between 2013 and 2014 two years period from Taipei city. There were 23,990 was done the first trimester screening using a combination of fetal nuchal translucency, maternal serum β-human chorionic gonadotropin, and pregnancy-associated plasma protein-A between 11⁺⁰ and 13⁺⁶ weeks of gestation age. Second-trimester screening was done for 5149 cases using a double test (β-human chorionic gonadotropin and serum alpha fetoprotein) between 15 and 20 weeks of gestation. The cut-off risk for both is 1:270 or higher.

This multicenter study 29,137 cases that completed first- and second-trimester screening, and the outcome was available in 28,726 cases. The mean maternal age of the screen-positive group was 34.6 ± 4.2 years. The first-trimester had 891 cases screening positive with a detection rate of 97.5% for fetal trisomy 21, and false positive rate of 3.5%. In the second-trimester had 334 cases screening positive, the detection rate and false positive rate were 33.3% and 6.4% for trisomy 21, respectively.

The first-trimester screening had higher performance with a lower false positive rate than the second-trimester screening. First-trimester screening could reduce the rate of unnecessary invasive testing for all pregnant women.