Impact of prenatal mid-trimester screening on the prevalence of fetal structural anomalies: a prospective epidemiological study

Abstract

The objective of this study was to evaluate the effectiveness of the measurement of maternal serum alpha-fetoprotein (MSAFP) at 16 weeks and a subsequent routine ultrasound screening at 18-20 weeks' gestation and the impact on the birth prevalence of congenital structural anomalies in an unselected pregnant population of Hungary in a prospective epidemiological study. A total of 63,794 pregnant women (representing one-sixth of the population of Hungary) were offered this screening program over 3 years (1988-90). Of the pregnant population, 75.7% (48,312) received MSAFP screening and in 81.0% (51,675), at least one ultrasound scan was performed. In the screened pregnancies, 496 craniospinal, thoraco-abdominal, urogenital and other severe major anomalies occurred; 317 were detected at 18-20 weeks (sensitivity 63.1%; specificity 100.0%; positive predictive value 100.0%). The sensitivity of ultrasound scanning was significantly higher (p < 0.05) than that of the MSAFP screening. (At the time of ultrasound scanning the MSAFP value was known.) In this study, the less serious anomalies such as hydrocele, hypospadias and undescended testicle were not systematically searched for, but the birth prevalences were calculated. The overall mid-trimester prevalence of severe plus less severe major anomalies was 2.26%. The birth prevalences of severe major anomalies were 0.57 (craniospinal), 4.36 (thoracoabdominal and urogenital) and 1.21 (other severe) per 1000. These values were lower than the mid-trimester prevalences which were 2.94, 5.20 and 2.06 per 1000, respectively. The prevalence values at the age of 1 year were also calculated (0.36, 2.21, 0.54 per 1000, respectively). We conclude that our screening program with availability of termination of pregnancy could significantly (p < 0.05) reduce the prevalence of severe major abnormalities at birth. Training programs in cardiac scanning are required.