Detection of Congenital Anomalies by Fetal Ultrasonographic Examination across Europe

Abstract

Objectives: Birth defects are a major health burden. Primary prevention is at present emerging, i.e. folate supplementation. When it is not possible, as is still the case for most birth defects, research is needed to determine how an optimal provision of prenatal diagnosis and use of services can be achieved. Ultrasound scans in the midtrimester of pregnancy are now a routine part of antenatal care in most European countries. The objective of this study was to evaluate the prenatal diagnosis of congenital anomalies by fetal ultrasonographic examination across Europe. Methods: Data from 20 registries of congenital malformations in 12 European countries were included. The prenatal ultrasound screening programs in the countries ranged from no routine screening to 3 fetal scans offered, including 2 for biometric purposes and 1 for search of congenital anomalies, the anomaly scan. Results: There were 8,126 cases with congenital anomalies with an overall prenatal detection rate of 44.3%. Termination of pregnancy was performed in 1,657 cases (21.8%). There was significant variation in the prenatal detection rate between regions with the lowest detection rate in registries of countries without routine fetal screening (Denmark and The Netherlands) and the highest detection rate in registries of countries with at least 1 anomaly scan (France, Germany, Italy, Spain, UK). However, there were large variations among the registries with a high detection rate. There were significant differences in the prenatal detection rate and proportion of induced abortions between isolated anomalies and associated anomalies (chromosomal aberrations, recognized syndromes, and multiple without chromosomal aberrations or recognized syndromes). Conclusions: Prenatal detection rate of congenital anomalies by fetal scan varies significantly between registries of European countries even with the same screening policy. Prenatal detection of congenital anomalies is significantly higher when associated malformations are present. The rate of induced abortions varies between registries of countries even with the same detection rate of congenital anomalies. The variation described may be due to cultural and policy differences.

Perinatal mortality in pregnancies with omphalocele: data from the Chinese national birth defects monitoring network, 1996–2006

“…First, prenatal ultrasonography has become a routine examination in pregnancy. The sensitivity of prenatal ultrasound screening in detecting omphalocele is 75% in the second trimester of pregnancy, ranking second among all of the congenital malformations that are diagnosed prenatally by ultrasound (anencephaly is the first) [24,28]. Second, prenatally diagnosed cases include more fetuses with a giant omphalocele or liver herniation compared with those postnatally diagnosed, and most women opt for termination of pregnancy or intrauterine death occurs [20].…”

Termination of pregnancy for fetal anomaly

“…Advances in medical technology and the introduction of routine prenatal screening allow the diagnosis of various fetal malformations throughout pregnancy [1]. In the absence of therapeutic options, more and more parents are likely to consider the possibility of legal termination of pregnancy for fetal anomaly.…”

Perinatal outcomes and congenital heart defect prognosis in 53313 non-selected perinatal infants

“…Several studies have addressed prenatal rates of CHD detection[9, 19, 20]. However, comparing our results with those of other studies might be difficult due to differences in population selection, study design and CHD classification.…”

“…Worldwide, epidemiological studies of CHDs have mainly (80%) relied upon population-based surveillance data; however, in China, these studies have predominantly relied upon hospital-based surveillance data[5, 6]. Despite the increased feasibility of this type of surveillance, hospital-based surveillance suffers from the inevitable selection bias associated with the location of delivery and is also affected by geographic location, socioeconomic level and educational status[7–9]. Thus, hospital-based surveillance is potentially associated with increased CHD detection rates compared with population-based surveillance.…”