Prenatal detection of trisomy 21 by second-trimester ultrasound examination and maternal age in a non-selected population of 49 314 births in Norway

Abstract

Objectives: To assess the contribution of the second-trimester routine ultrasound examination and maternal age (>or= 38 years) to the prenatal detection of trisomy 21 in a large non-selected population in which no other screening methods were carried out.

Methods: A prospective follow-up study was carried out in a non-selected Norwegian population from 1987 to 2004, including a total of 49 314 births. Data from all cases of trisomy 21, detected prenatally by karyotyping following amniocentesis performed for abnormal ultrasound findings or because of maternal age >or= 38 years, or postnatally after delivery, were registered. The study period was divided into three 6-year periods.

Results: Eighty-eight cases of trisomy 21 were registered. The prenatal detection rate was 43% (38/88). No significant change in the detection rate was observed over the 18 years. Fourteen percent (12/88) of cases were detected as a result of advanced maternal age and 30% (26/88) by prenatal ultrasound examination. Of all women with a trisomy 21 fetus, 72% (63/88) were under 38 years of age. The percentage of women >or= 38 years opting for karyotyping during the three time periods decreased significantly from 51% to 50% and 36%, respectively. The termination rate of trisomy 21 fetuses was 84%, with no significant change over time.

Conclusions: Our data can be considered as a reference standard for population screening for trisomy 21 based solely on maternal age and second-trimester ultrasound imaging. The prenatal detection rate of trisomy 21 cases was poor and remained unchanged throughout the 18-year study period. If improvement in detection rates is desired, additional programs are necessary.