Abstract
Background: In Europe, about 76% of cases of chromosomal anomalies are prenatally diagnosed. Prenatal diagnosis allows more efficient planning of postnatal treatment and helps parents for an informed decision about the continuation of pregnancy. The main aim of this study was to evaluate whether the sociodemographic maternal characteristics affect the probability of prenatal diagnosis of chromosomal anomalies.Methods: Cases of chromosomal anomalies in the period 2005–2017 came from the population-based registry of congenital anomalies of Tuscany (Italy). Differences in the proportion of cases prenatally diagnosed were investigated through the following maternal characteristics: education, geographic origin and occupation. The association between cases of termination of pregnancy after prenatal diagnosis and maternal characteristics was also analysed. Odds Ratios (OR) adjusted by maternal age were calculated using logistic regression models. Results were provided for all cases of chromosomal anomalies and for Down syndrome cases.Results: A total of 1,419 cases were included in the study. Cases prenatally diagnosed were 1,186 (83.6%). We observed a higher proportion of cases not prenatally diagnosed among cases with low maternal education compared to those with high maternal education (OR = 2.16, p < 0.001) and in women from high migratory outflow countries, compared to the Italian ones (OR = 2.85, p < 0.001). For prenatally diagnosed Down syndrome cases, we observed a higher proportion of termination of pregnancy for women with low education level (OR = 4.36, p = 0.023).Conclusions: In our study evidence of differences in the probability of prenatal diagnosis of chromosomal anomalies associated with maternal education and geographic origin was found. Population-based studies investigating sociodemographic disparities can provide essential information for targeted public health programs. Further studies are recommended to monitor the impact of the increasing availability of non-invasive screening tests.
Highlights
MATERIALS AND METHODSChromosomal anomalies account for about 17% of the major congenital anomalies diagnosed before the age of 1 year in Europe
Using population-based data from a registry of congenital anomalies, we found that the probability of prenatal diagnosis for chromosomal anomalies was affected by different maternal sociodemographic characteristics
It proved to be a reliable factor with the greatest impact on the outcome of interest, showing that women with a low level of education were less likely to have a prenatal diagnosis for chromosomal anomalies
Summary
MATERIALS AND METHODSChromosomal anomalies account for about 17% of the major congenital anomalies diagnosed before the age of 1 year in Europe. According to EUROCAT, the European network of population-based registries for the epidemiological surveillance of congenital anomalies, the proportion of chromosomal anomalies prenatally diagnosed is around 76% [1]. Prenatal diagnosis constitutes support for parents for an informed decision about the continuation of pregnancy. The effects of socioeconomic factors on the prevalence and the access to prenatal diagnosis of Down syndrome, the most frequent chromosomal anomaly, have been investigated in a few population-based studies [2–5]. The results of these studies suggest the presence of disparities in prenatal diagnosis of Down syndrome among the different ethnic and socioeconomic subgroups. Prenatal diagnosis allows more efficient planning of postnatal treatment and helps parents for an informed decision about the continuation of pregnancy. The main aim of this study was to evaluate whether the sociodemographic maternal characteristics affect the probability of prenatal diagnosis of chromosomal anomalies
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