Abstract
Surveillance of congenital anomalies is important in order to detect negative influences from environment, medication, or lifestyle as early as possible. Since most teratogens are associated with a spectrum of birth defects rather than a single defect, analysis of the epidemiology of multiple congenital anomalies is important to detect an increase due to environmental or medicine exposure. The aim of the study was to describe changes in prevalence, types of anomalies, and outcome of pregnancies for fetuses and infants with multiple congenital anomalies before and after introduction of the new screening program in the County of Funen, Denmark. The study was based on data from the EUROCAT registry of the County of Funen for the period 1990 to 2014 covering 135,057 births. The registry includes information about livebirths, fetal deaths after 20 weeks of gestation and terminations of pregnancy after prenatal diagnosis of fetal anomalies. All cases with two or more major congenital anomalies in different organ systems, where the pattern of anomalies were not recognized as part of a chromosomal or genetic syndrome or a sequence were included in the study. Overall prevalence of multiple congenital anomalies was 19.7 per 10,000 pregnancies. There was no significant change in prevalence over time. The prenatal detection rate increased from 26 to 57% after introduction of the screening program (p < 0.001). Proportion of terminations of pregnancy increased from 11 to 30% of all cases and 1-week survival for livebirths increased from 64 to 94%. There was no change in combinations of involved organ systems. The implementation of the new screening program in 2004 has led to an increased prenatal detection rate of multiple congenital anomalies followed by an increased rate of termination of pregnancy for the most severe cases and an increased 1-week survival for liveborn infants with multiple congenital anomalies.
Highlights
Surveillance of congenital anomalies has become an important public health activity since the thalidomide disaster, aiming to prevent a similar or smaller incidents (1)
The aim of this study is to describe the influence of the screening program implemented in Denmark during 2004 on prenatal detection rates, rates of terminations of pregnancy and the impact on survival of liveborn infants with multiple congenital anomalies
The prenatal detection rate increased from 26% before to 57% after implementation of the screening program (p < 0.001)
Summary
Surveillance of congenital anomalies has become an important public health activity since the thalidomide disaster, aiming to prevent a similar or smaller incidents (1). Surveillance of congenital anomalies is of significant importance in order to detect negative influences from environment, medication, or lifestyle as early as possible and in this way prevent congenital anomaly clusters due Epidemiology of Multiple Congenital Anomalies to new teratogenic exposures (1). Since some teratogens are associated with a spectrum of birth defects rather than a single defect, analysis of the epidemiology of multiple congenital anomalies is important to detect an increase of those due to environmental or medicine exposure (2). The recommendation suggested that by screening all pregnant women with a blood test and an ultrasound, the number of amniocentesis would decrease and simultaneously the prenatal detection rate of congenital anomalies would increase. At that time amniocentesis leads to a miscarriage in about 1 of 100 pregnancies, reducing the numbers was desirable and non-invasive methods should be preferred (3)
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