Birth defects research. Part A, Clinical and molecular teratology
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Birth Defects Res. Part A Clin. Mol. Teratol. · Mar 2014
ReviewEpidemiology of bronchopulmonary dysplasia.
Bronchopulmonary dysplasia (BPD) is among the most common and serious sequelae of preterm birth. BPD affects at least one-quarter of infants born with birth weights less than 1500 g. ⋯ The diagnosis of BPD predicts multiple adverse outcomes including chronic respiratory impairment and neurodevelopmental delay. This review summarizes the diagnostic criteria, incidence, risk factors, and long-term outcomes of BPD.
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Birth Defects Res. Part A Clin. Mol. Teratol. · Aug 2012
ReviewPharmacologic treatment of hyperthyroidism during pregnancy.
Clinical hyperthyroidism has been associated with an increased risk of maternal, fetal, and neonatal complications. The available antithyroid drugs are methimazole/carbimazole and propylthiouracil. Several case reports and some epidemiologic studies suggest that methimazole/carbimazole exposure during the first trimester of pregnancy is associated with an increased risk of congenital malformations, including ectodermal anomalies, choanal atresia, esophageal atresia, and omphalocele. ⋯ Propylthiouracil exposure has not been associated with an increased risk of congenital malformations and is the recommended drug during the first trimester of pregnancy. Since propylthiouracil-induced hepatotoxicity has been reported in approximately 0.1% of exposed adults and the number of case-reports of severe liver injury is increasing, treatment with low dose methimazole during the second and third trimesters should be considered. Until now, there has been no evidence that children prenatally exposed to methimazole/carbimazole or propylthiouracil have an increased risk of neurodevelopmental delay.
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Birth Defects Res. Part A Clin. Mol. Teratol. · Mar 2012
ReviewNine new twin pairs with esophageal atresia: a review of the literature and performance of a twin study of the disorder.
Isolated esophageal atresia (EA) is a rare congenital malformation whose etiology remains largely unknown. Nine twin pairs with EA were identified from our clinical service, prompting the performance of a systematic review of the literature and the first reported twin study of isolated EA. ⋯ The observation of higher concordance rates for MZ compared to DZ twin pairs indicates that genetic factors contribute to isolated EA.
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Birth Defects Res. Part A Clin. Mol. Teratol. · Mar 2011
ReviewPaper 3: EUROCAT data quality indicators for population-based registries of congenital anomalies.
The European Surveillance of Congenital Anomalies (EUROCAT) network of population-based congenital anomaly registries is an important source of epidemiologic information on congenital anomalies in Europe covering live births, fetal deaths from 20 weeks gestation, and terminations of pregnancy for fetal anomaly. EUROCAT's policy is to strive for high-quality data, while ensuring consistency and transparency across all member registries. A set of 30 data quality indicators (DQIs) was developed to assess five key elements of data quality: completeness of case ascertainment, accuracy of diagnosis, completeness of information on EUROCAT variables, timeliness of data transmission, and availability of population denominator information. ⋯ The EUROCAT DQIs allow registries to evaluate their performance in relation to other registries and allows appropriate interpretations to be made of the data collected. The DQIs provide direction for improving data collection and ascertainment, and they allow annual assessment for monitoring continuous improvement. The DQI are constantly reviewed and refined to best document registry procedures and processes regarding data collection, to ensure appropriateness of DQI, and to ensure transparency so that the data collected can make a substantial and useful contribution to epidemiologic research on congenital anomalies.
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Birth Defects Res. Part A Clin. Mol. Teratol. · Mar 2011
ReviewPaper 2: EUROCAT public health indicators for congenital anomalies in Europe.
The purpose of this article is to present the specific public health indicators recently developed by EUROCAT that aim to summarize important aspects of the public health impact of congenital anomalies in a few quantitative measures. ⋯ It is hoped that by publishing the data on EUROCAT indicators, the public health importance of congenital anomalies can be clearly summarized to policy makers, the need for accurate data from registries emphasized, the need for primary prevention and treatment services highlighted, and the impact of current services measured.