The trends of prenatal screening and prenatal diagnosis in Taiwan from 2006 to 2015

Abstract

Objective To determine the trends in the impact of combined first-trimester testing in conjunction with second-trimester maternal serum screening and non-invasive prenatal diagnosis in Taiwan from 2006 to 2015 Methods This national registry-based cohort retrospective study examined a total of 2,019,369 births from January 2006 to December 2015. In the 10-year period, the prenatal screening methods evolved from second-trimester serum test screening to the combined first-trimester test and the secondary-trimester quadruple test, followed by non-invasive cell-free DNA prenatal screening. Official policy indications were implemented for prenatal cytogenetic diagnosis among pregnant women. Personal registration numbers of women who had an amniocentesis or chorionic villus sampling (CVS) were retrieved from the Taiwan Central Cytogenetic Registry and cross-linked with the National Registry of Patients to determine the outcome of each pregnancy. The data used were provided by the Health Promotion Administration of Ministry of Health and Welfare. Results We estimated that the total number of invasive prenatal diagnoses was 410,972, and the overall rate of invasive procedures was 21.82%. The proportion of advanced maternal age (AMA) increased from 11.8% in 2006 to 24.9% in 2015. The rate of the indication for invasive prenatal diagnosis in AMA increased from 62.7% in 2006 to 91.2% in 2015. The prenatal detection rate of trisomy 21 and 18 increased from 74.1% and 83.3% in 2006 to 93.7% and 99.1% in 2015, respectively. The population prevalence's of trisomy 21, 18, and 13 were one in 739, 2920, and 10847, respectively. Discussion The amount of AMA pregnant women increased year by year, and the number of invasive procedures increased with age. However, the detection rate was also increased by the improvements in screening methods.