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BACKGROUND: Congenital hydrocephalus (CH) comprises a heterogeneous group of birth anomalies with a wide-ranging prevalence across geographic regions and registry type. The aim of the present study was to analyze the early neonatal case fatality rate (CFR) and total birth prevalence of newborns diagnosed with CH.METHODS: Data were provided by 25 registries from four continents participating in the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) on births ascertained between 2000 and 2014. Two CH rates were calculated using a Poisson distribution: early neonatal CFR (death within 7 days) per 100 liveborn CH cases (CFR) and total birth prevalence rate (BPR) per 10,000 births (including live births and stillbirths) (BPR). Heterogeneity between registries was calculated using a meta-analysis approach with random effects. Temporal trends in CFR and BPR within registries were evaluated through Poisson regression modeling.RESULTS: A total of 13,112 CH cases among 19,293,280 total births were analyzed. The early neonatal CFR was 5.9 per 100 liveborn cases, 95% confidence interval (CI): 5.4-6.8. The CFR among syndromic cases was 2.7 times (95% CI: 2.2-3.3) higher than among non-syndromic cases (10.4% [95% CI: 9.3-11.7] and 4.4% [95% CI: 3.7-5.2], respectively). The total BPR was 6.8 per 10,000 births (95% CI: 6.7-6.9). Stratified by elective termination of pregnancy for fetal anomalies (ETOPFA), region and system, higher CFR were observed alongside higher BPR rates. The early neonatal CFR and total BPR did not show temporal variation, with the exception of a CFR decrease in one registry.CONCLUSIONS: Findings of early neonatal CFR and total BPR were highly heterogeneous among registries participating in ICBDSR. Most registries with higher CFR also had higher BPR. Differences were attributable to type of registry (hospital-based vs. population-based), ETOPFA (allowed yes or no) and geographical regions. These findings contribute to the understanding of regional differences of CH occurrence and early neonatal deaths.

Background: Neural tube defects (NTDs) are serious birth defects arising from abnormalities in neural tube development during early embryogenesis. Research shows that taking folic acid (FA) prior to and throughout the first 12 weeks of pregnancy will significantly decrease the occurrence of NTDs. The prevalence of NTDs in Malta is 10.0/10,000 births, yet this rate can be brought down to 5.0-6.0/10,000 births with preconception FA. This study aims to investigate the maternal intake of preconception FA in Malta. Methods: The National Obstetric Information System (NOIS) collects detailed demographic, pregnancy, delivery and infant outcome data on all births in Malta. One of the variables recorded at the first antenatal visit is whether the mother took FA prior to pregnancy. NOIS data for 2015 was obtained, Excel and SPSS were used for analysis. Results: 4385 women delivered a baby in 2015, of these 1125 (25.7%) reported taking FA before pregnancy. Both univariate and multivariate logistic regression showed that maternal age, parity, education, nationality, locality of residence, marital status, planned pregnancy and use of artificial reproductive technology were all significantly associated with taking preconception FA (p, peer-reviewed

Introduction: The trend towards delayed motherhood has accelerated in developed countries over the last few decades. Advanced maternal age (AMA) is defined as age 35 years and older at the estimated date of delivery. Objective: The aim of this large retrospective cohort study is to assess for the association between AMA and adverse maternal outcomes after adjustment for confounding factors in maternal characteristics and in the obstetric history. Study Design: Mothers of 20 years and older, who delivered singleton babies in Malta and Gozo between 1st January 2000 and 31st December 2014 were studied. All data was derived from the National Obstetric Information System. Results: The study population included 55,943 singleton births. 12.2% (6,838) of mothers were between 35 – 39 years and 2.4% (1,325) were 40 years and older. Significant difference was found between maternal age and BMI (p < 0.0001), maternal smoking status (p < 0.0001), non-insulin dependent diabetes mellitus (p = 0.004), history of stillbirth (p < 0.0001), gestational diabetes (p < 0.0001), pregnancy – induced – hypertension (p = 0.008) and pre-eclampsia (p = 0.008). Significant difference was also found between maternal age and mode of delivery (p < 0.0001). Regression analysis revealed persistent significant differences between maternal age and different maternal outcomes. Conclusion: This study demonstrates that AMA in Malta significantly increases the risk for hypertension in pregnancy, gestational diabetes and caesarean delivery. Care providers need to be aware of these increased risks and adjust their obstetric management according to the individual to ensure optimal maternal outcomes., peer-reviewed

It is well documented and recognized internationally that good quality health information is essential to public health in its endeavor to protect and promote the health of a nation. The need for dedicated health information systems within the Ministry for Health in Malta was felt more than 30 years ago, when the Chief Government Medical Officer at the time called for the introduction and implementation of a health service information system. This led to the development of a dedicated unit with the aims of providing basic statistical and epidemiological information, conducting surveys and evaluating health programmes. Over the years, this unit has developed into the current Directorate for Health Information and Research which is now responsible for maintaining ten population-based Health Registers and a five yearly National Health Interview Survey, in addition to other ad hoc research. This article traces the development of health information systems in Malta from their inception in the early 1980s to date., peer-reviewed

Introduction Underage pregnancy may blight a young woman’s life. Teenage pregnancy rates vary widely across the world and have poorer pregnancy outcomes than non-teen pregnancies. Local Personal, Social and Career Development Education (PSCD) teaching is stipulated per curricula. This study was carried out by the Divisions of Education and Health in order to ascertain whether there are any differences in teenage pregnancy rates between State and non-State schools. Methods Ethical approval and data protection approval was obtained. The Health Division, identified pregnancies with mothers with age ≤18 years, for 2011-2015. Secondary schoosl attended were identified and an anonymised dataset was then passed on to the principal investigator for analysis. Results Teenage deliveries were significantly less in Non-State when compared to State schools, for each year studied, as well as for the aggregate of the total (p, peer-reviewed

Folic acid is known to be beneficial in pregnancy and has been shown to prevent severe and devastating birth defects including neural tube defects. Health Authorities and Governments around the world have taken several initiatives in order to increase women’s peri-conceptional folic acid intake, varying from issuing guidelines, undertaking extensive health promotion campaigns to mandatory food fortification of staple foods with folic acid. These interventions have had varying success in preventing neural tube defects. This paper is a comprehensive review of the current literature, putting together and summarizing the various initiatives undertaken by different countries and their success or otherwise in increasing women’s peri-conceptional folic acid intake and preventing neural tube defects., peer-reviewed

Introduction: The sex ratio at birth is commonly calculated as the total male live births divided by all live births, and is represented as M/F. A multitude of factors influence M/F, especially stress, which increases male foetal losses during pregnancy. This study was carried out in order to ascertain whether any maternal or perinatal relevant factors influenced M/F in Malta. Methods: National Obstetric Information System data was used for the period 2012-2015. Non-Maltese mothers were excluded. Factors analysed were maternal age, marital status, education, body mass index, regularity of menses, utilisation of assisted reproductive technology, previous diabetes mellitus, previous miscarriages, abortions, ectopic pregnancies, vaginal deliveries, caesarean sections, livebirths, early and late neonatal deaths, stillbirths and premature deliveries. Intra-partum conditions included infection, cardiovascular disorders and all forms of diabetes mellitus. Results: This study analysed 14498 births. None of the above mentioned variables was significantly linked to the M/F ratio. Discussion: Our dataset failed to find any variables that influenced M/F, including stressing variables. However our study may have been underpowered due to the small numbers of births and the relative rarity of the various conditions. Alternatively, in Malta, such variables may produce little or no stress due to hitherto unknown mitigating factor/s., peer-reviewed

Oculo-auriculo-vertebral spectrum is a complex developmental disorder characterised mainly by anomalies of the ear, hemifacial microsomia, epibulbar dermoids and vertebral anomalies. The aetiology is largely unknown, and the epidemiological data are limited and inconsistent. We present the largest population-based epidemiological study to date, using data provided by the large network of congenital anomalies registries in Europe. The study population included infants diagnosed with oculo-auriculo-vertebral spectrum during the 1990-2009 period from 34 registries active in 16 European countries. Of the 355 infants diagnosed with oculo-auriculo-vertebral spectrum, there were 95.8% (340/355) live born, 0.8% (3/355) fetal deaths, 3.4% (12/355) terminations of pregnancy for fetal anomaly and 1.5% (5/340) neonatal deaths. In 18.9%, there was prenatal detection of anomaly/anomalies associated with oculo-auriculo-vertebral spectrum, 69.7% were diagnosed at birth, 3.9% in the first week of life and 6.1% within 1 year of life. Microtia (88.8%), hemifacial microsomia (49.0%) and ear tags (44.4%) were the most frequent anomalies, followed by atresia/stenosis of external auditory canal (25.1%), diverse vertebral (24.3%) and eye (24.3%) anomalies. There was a high rate (69.5%) of associated anomalies of other organs/systems. The most common were congenital heart defects present in 27.8% of patients. The prevalence of oculo-auriculo-vertebral spectrum, defined as microtia/ ear anomalies and at least one major characteristic anomaly, was 3.8 per 100 000 births. Twinning, assisted reproductive techniques and maternal pre-pregnancy diabetes were confirmed as risk factors. The high rate of different associated anomalies points to the need of performing an early ultrasound screening in all infants born with this disorder.

AIMS: Information about medication safety in pregnancy is inadequate. We aimed to develop a signal detection methodology to routinely identify unusual associations between medications and congenital anomalies using data collected by 15 European congenital anomaly registries.METHODS: EUROmediCAT database data for 14 950 malformed foetuses/babies with first trimester medication exposures in 1995-2011 were analyzed. The odds of a specific medication exposure (coded according to chemical substance or subgroup) for a specific anomaly were compared with the odds of that exposure for all other anomalies for 40 385 medication anomaly combinations in the data. Simes multiple testing procedure with a 50% false discovery rate (FDR) identified associations least likely to be due to chance and those associations with more than two cases with the exposure and the anomaly were selected for further investigation. The methodology was evaluated by considering the detection of well-known teratogens.RESULTS: The most common exposures were genitourinary system medications and sex hormones (35.2%), nervous system medications (28.0%) and anti-infectives for systemic use (25.7%). Fifty-two specific medication anomaly associations were identified. After discarding 10 overlapping and three protective associations, 39 associations were selected for further investigation. These associations included 16 which concerned well established teratogens, valproic acid (2) and maternal diabetes represented by use of insulin (14).CONCLUSIONS: Medication exposure data in the EUROmediCAT central database can be analyzed systematically to determine a manageable set of associations for validation and then testing in independent datasets. Detection of teratogens depends on frequency of exposure, level of risk and teratogenic specificity.

Objective: Infants from multiple pregnancies have higher rates of preterm birth, stillbirth and neonatal death and differences in multiple birth rates (MBR) exist between countries. We aimed to describe differences in MBR in Europe and to investigate the impact of these differences on adverse perinatal outcomes at a population level. Methods: We used national aggregate birth data on multiple pregnancies, maternal age, gestational age (GA), stillbirth and neonatal death collected in the Euro-Peristat project (29 countries in 2010, N = 5 074 643 births). We also used European Society of Human Reproduction and Embryology (ESHRE) data on assisted conception and single embryo transfer (SET). The impact of MBR on outcomes was studied using meta-analysis techniques with randomeffects models to derive pooled risk ratios (pRR) overall and for four groups of country defined by their MBR. We computed population attributable risks (PAR) for these groups. Results: In 2010, the average MBR was 16.8 per 1000 women giving birth, ranging from 9.1 (Romania) to 26.5 (Cyprus). Compared to singletons, multiples had a nine-fold increased risk (pRR 9.4, 95% Cl 9.1-9.8) of preterm birth (, 0, SCOPUS: ar.j, info:eu-repo/semantics/published

Folate is essential for normal cell division and as intrauterine fetal growth involves a process of rapidly dividing cells, there is a consequent increased requirement for folate at this time. Folate, and the synthetic form folic acid, is thus vital for the early development process of a healthy fetus and there is indisputable evidence that it can significantly reduce the risk of neural tube defects (NTDs). Further ongoing research suggests that folic acid supplementation in pregnancy is also associated with a decreased risk of other birth defects. This review gives an overview of the current literature related to the use of folic acid in the peri-conceptional period and prevention of birth defects, in particular NTDs., peer-reviewed

Comment in: Mills JL, Dimopoulos A. Folic acid fortification for Europe? BMJ. 2015 Nov 24;351:h6198. doi: 10.1136/bmj.h6198. Study question: What are the long term trends in the total (live births, fetal deaths, and terminations of pregnancy for fetal anomaly) and live birth prevalence of neural tube defects (NTD) in Europe, where many countries have issued recommendations for folic acid supplementation but a policy for mandatory folic acid fortification of food does not exist? Methods: This was a population based, observational study using data on 11 353 cases of NTD not associated with chromosomal anomalies, including 4162 cases of anencephaly and 5776 cases of spina bifida from 28 EUROCAT (European Surveillance of Congenital Anomalies) registries covering approximately 12.5 million births in 19 countries between 1991 and 2011. The main outcome measures were total and live birth prevalence of NTD, as well as anencephaly and spina bifida, with time trends analysed using random effects Poisson regression models to account for heterogeneities across registries and splines to model non-linear time trends. Summary answer and limitations: Overall, the pooled total prevalence of NTD during the study period was 9.1 per 10 000 births. Prevalence of NTD fluctuated slightly but without an obvious downward trend, with the final estimate of the pooled total prevalence of NTD in 2011 similar to that in 1991. Estimates from Poisson models that took registry heterogeneities into account showed an annual increase of 4% (prevalence ratio 1.04, 95% confidence interval 1.01 to 1.07) in 1995-99 and a decrease of 3% per year in 1999-2003 (0.97, 0.95 to 0.99), with stable rates thereafter. The trend patterns for anencephaly and spina bifida were similar, but neither anomaly decreased substantially over time. The live birth prevalence of NTD generally decreased, especially for anencephaly. Registration problems or other data artefacts cannot be excluded as a partial explanation of the observed trends (or lack thereof) in the prevalence of NTD. What this study adds: In the absence of mandatory fortification, the prevalence of NTD has not decreased in Europe despite longstanding recommendations aimed at promoting peri-conceptional folic acid supplementation and existence of voluntary folic acid fortification. The study was funded by the European Public Health Commission, EUROCAT Joint Action 2011-2013. HD and ML received support from the European Commission DG Sanco during the conduct of this study.

Background: The use of insulin analogs in pregnancy is increasing, but information on teratogenic risks is lacking. Available studies on insulin analogs during pregnancy are not sufficiently powered to evaluate the risk of specific major malformations. Objectives: The aim of this study was to evaluate the risk of major congenital anomalies associated with insulin analogs use in women with pregestational diabetes. Methods: A population-based cohort of pregestational diabetic pregnancies was established retrospectively from seven European regions covered by EUROCAT congenital anomaly registries. Major congenital malformations were defined according the EUROCAT classification. Results: A total of 1877 births to women with pregestational diabetes were enrolled in the study during 1996-2012. During the first trimester, 870 births (46.3%) were exposed to only human insulin, 397 births (21.2%) to only insulin analogs, and 394 births (20.1%) to both human insulin and insulin analogs. The proportion of still birth and spontaneous abortion (4.0%) is higher among only insulin analog group compared with only human insulin group (1.4%). Overall, 132 births (7.0%) with major congenital malformation were detected, of which seven were chromosomal. The prevalence of major congenital anomalies in births exposed to only insulin analogs (3.8%) during the first trimester was significantly lower than those exposed to only human insulin (8.6%); relative risk=0.42 (95%CI 0.24-0.73). This is largely due to the decreased prevalence of non-chromosomal congenital heart defects (CHD): relative risk=0.18 (95%CI 0.05-0.58). The decreased prevalence remained after adjusting for glycemic control, planned pregnancy, and region. The prevalence of non-CHD congenital anomalies among births exposed to only insulin analogs in the first trimester (3.0%) was lower than those exposed to only human insulin (4.0%), but not statistically significant. Conclusions: This study shows that first trimester exposure to insulin analogs did not increase the risk of congenital anomalies compared with exposure to human insulin. The decrease risk of congenital anomalies was driven by CHDs. The higher risk of fetal death in relation to insulin analogs warranted further investigation.

The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and terminations of pregnancy for fetal anomaly (TOPFAs). The prevalence of associated anomalies was reported in live births. The prevalence of trisomy 18 and trisomy 13 were 4.8 (95%CI: 4.7-5.0) and 1.9 (95%CI: 1.8-2.0) per 10,000 total births. Seventy three percent of cases with trisomy 18 or trisomy 13 resulted in a TOPFA. Amongst 468 live born babies with trisomy 18, 80% (76-83%) had a cardiac anomaly, 21% (17-25%) had a nervous system anomaly, 8% (6-11%) had esophageal atresia and 10% (8-13%) had an orofacial cleft. Amongst 240 Live born babies with trisomy 13, 57% (51-64%) had a cardiac anomaly, 39% (33-46%) had a nervous system anomaly, 30% (24-36%) had an eye anomaly, 44% (37-50%) had polydactyly and 45% (39-52%) had an orofacial cleft. For babies with trisomy 18 boys were less likely to have a cardiac anomaly compared with girls (OR = 0.48 (0.30-0.77) and with trisomy 13 were less likely to have a nervous system anomaly [OR = 0.46 (0.27-0.77)]. Babies with trisomy 18 or trisomy 13 do have a high proportion of associated anomalies with the distribution of anomalies being different in boys and girls. © 2015 Wiley Periodicals, Inc.

OBJECTIVES: The aim of this study is to describe the prenatal diagnosis and epidemiology of multicystic kidney dysplasia (MCKD).METHODS: The study is based on routinely collected data from a European database of major congenital anomalies including 13 registries with cases born in 1997-2006 and covering 1 458 552 births.RESULTS: There were 601 MCKD cases giving an overall prevalence of 4.12 per 10 000 births with regional variation. In live births, 87% of cases had an isolated renal anomaly and 13% had associated major nonrenal anomalies (chromosomal, syndrome or other major anomalies). For the cases with isolated renal anomalies, 51/386 (11%) and 7/386 (2%) choose to terminate the pregnancy or resulted in an intrauterine fetal death, respectively. The prenatal detection rate was 88% in both unilateral and bilateral cases. Birth outcome differed with 92% of unilateral MCKD cases being liveborn compared with 33% of bilateral MCKD cases. For unilateral MCKD cases, 84% had an isolated renal anomaly compared with 51% of bilateral MCKD cases (p CONCLUSIONS: Cases with unilateral MCKD are mainly liveborn, and only 16% have associated major malformations or a syndrome. Cases with bilateral MCKD are often associated with nonrenal major congenital anomalies or part of a syndrome, and only one third of bilateral MCKD cases in this study were liveborn. Prenatal detection rate of MCKD was high for both unilateral and bilateral cases. © 2014 John Wiley & Sons, Ltd.

Background: Lamotrigine (LTG) is increasingly used during pregnancy. A FDA warning was issued for an association of LTG exposure and increased risk of orofacial clefts (OCs), based on data from the North American Antiepileptic Drug Pregnancy Registry (Holmes, 2006; Holmes et al., 2008). The signal was examined in the European Surveillance of Congenital Anomalies (EUROCAT) antiepileptic-study database (Dolk, 2008). No significantly increased risk of OCs was found relative to other malformations, either for isolated orofacial clefts or for isolated cleft palate. There has been no independent confirmation of increased risk of OCs in relation to LTG from all studies in the literature combined (Dolk et al., 2012). Objectives: To investigate whether first trimester exposure to LTG monotherapy is specifically associated with an increased risk of OCs, using the EUROCAT antiepilepticstudy database including birth years up to 2010. Methods: A population-based case-control study with malformed controls was performed. The updated EUROCAT antiepileptic-study dataset included 226,806 live births, stillbirths, or terminations with malformations among 7.6 million births in 20 European countries from 1995 to 2010, more than twice the population of the original study. Cases were 10,523 nonsyndromic OC registrations, of whom 8,771 were isolated, and 3,789 cleft palate (CP) of whom 2,984 were isolated. Controls were 144,914 non-chromosomal, non-OC registrations. We compared first trimester LTG vs no antiepileptics (non- AED use), for mono and polytherapy. Results: There were 181 LTG exposed (109 mono- and 72 polytherapy) registrations. Thematernal age adjusted odds ratios (ORs) for LTG monotherapy vs non-AED use were 0.84 (95% CI 0.37-1.92) for OC relative to other malformations, 1.01 (95% CI 0.44-2.30) for isolated OC; 1.18 (95% CI 0.38-3.72) for CP, and 1.49 (95% CI 0.47-4.72) for isolated CP. Conclusions: This update does not change the conclusion of the original study: we found no evidence of an increased risk of isolated orofacial clefts relative to other malformations for LTG monotherapy exposure in the first trimester, nor any evidence of an increased risk for isolated cleft palate.

Background: While international variations in overall cesarean delivery rates are well documented, less information is available for clinical sub-groups. Cesarean data presented by subgroups can be used to evaluate uptake of cesarean reduction policies or to monitor delivery practices for high and low risk pregnancies based on new scientific evidence. We studied differences and patterns in cesarean delivery rates by multiplicity and gestational age in Europe and the United States.Methods: This study used routine aggregate data from 17 European countries and the United States on the number of singleton and multiple live births with cesarean versus vaginal delivery by week of gestation in 2008. Overall and gestation-specific cesarean delivery rates were analyzed. We computed rate differences to compare mode of delivery (cesarean vs vaginal birth) between selected gestational age groups and studied associations between rates in these subgroups namely: very preterm (26-31 weeks GA), moderate preterm (32-36 weeks GA), near term (37-38 weeks GA), term (39-41 weeks GA) and post-term (42+ weeks GA) births, using Spearman's rank tests.Results: High variations in cesarean rates for singletons and multiples were observed everywhere. Rates for singletons varied from 15% in The Netherlands and Slovenia, to over 30% in the US and Germany. In singletons, rates were highest for very preterm births and declined to a nadir at 40 weeks of gestation, ranging from 8.0% in Sweden and Norway, to 22.5% in the US. These patterns differed across countries; the average rate difference between very preterm and term births was 43 percentage points, but ranged from 14% to 61%. High variations in rate differences were also observed for near term versus term births. For multiples, rates declined by gestational age in some countries, whereas in others rates were similar across all weeks of gestation. Countries' overall cesarean rates were highly correlated with gestation-specific subgroup rates, except for very preterm births.Conclusions: Gestational age patterns in cesarean delivery were heterogeneous across countries; these differences highlight areas where consensus on best practices is lacking and could be used in developing strategies to reduce cesareans., peer-reviewed

Aim: This study reviews the clinical workload in paediatrics in Malta over a 16-year period. Methods: National statistics for live birth rates were obtained from the Directorate of Health Information and Research. Data for paediatric (birth to 14 completed years) and neonatal admissions, day cases, outpatient visits, attendance at Paediatric Accident and Emergency and the Community-based Developmental Unit were obtained from the Annual Reports, Department of Paediatrics, for the period 1996-2011. Results: During the study period, live births fell by 11% from 4,349 in 1996 to 3,857 in 2005, and recovered to 4,283 in 2011. Whereas neonatal admissions to NPICU remained constant at around 340(±22) per annum, inpatient admissions to the general Paediatric wards decreased by 19% (from 3,151 to 2,550), and casualty reviews dropped by 35% (11,831 to 7,773). In contrast, day care reviews increased by 66% (1,347 to 3,928), the total outpatient workload increased by 70% (13,500 to 22,998), and cases reviewed in the Community-based Child Developmental Unit increased by 184% from 413 to 1174. Changes observed in the clinical activity in Gozo General Hospital were similar but less marked. Conclusion: Over a 16 year period, there has been a significant shift in the paediatric workload in Malta from an in-patient bias in 1996 to increased day care and outpatient reviews in 2011. This shift is largely the result of improved hospital and community day health care services, and can be increased further with augmented community care. Health resources and future paediatric health care programmes will need to take heed of these trends., peer-reviewed

OBJECTIVES: To determine the excess risk of non- chromosomal congenital anomaly (NCA) among teenage mothers and older mothers. DESIGN AND SETTING: Population-based prevalence study using data from EUROCAT congenital anomaly registers in 23 regions of Europe in 15 countries, covering a total of 1.75 million births from 2000 to 2004. PARTICIPANTS: A total of 38, 958 cases of NCA that were live births, fetal deaths with gestational age > or = 20 weeks or terminations of pregnancy following prenatal diagnosis of a congenital anomaly. MAIN OUTCOME MEASURES: Prevalence of NCA according to maternal age, and relative risk (RR) of NCA and 84 standard NCA subgroups compared with mothers aged 25-29. RESULTS: The crude prevalence of all NCA was 26.5 per 1000 births in teenage mothers (

Objective To ‘map’ the current (2004) state of prenatal screening in Europe. Design (i) Survey of country policies and (ii) analysis of data from EUROCAT (European Surveillance of Congenital Anomalies) population-based congenital anomaly registers. Setting Europe. Population Survey of prenatal screening policies in 18 countries and 1.13 million births in 12 countries in 2002–04. Methods (i) Questionnaire on national screening policies and termination of pregnancy for fetal anomaly (TOPFA) laws in 2004. (ii) Analysis of data on prenatal detection and termination for Down's syndrome and neural tube defects (NTDs) using the EUROCAT database. Main outcome measures Existence of national prenatal screening policies, legal gestation limit for TOPFA, prenatal detection and termination rates for Down's syndrome and NTD. Results Ten of the 18 countries had a national country-wide policy for Down's syndrome screening and 14/18 for structural anomaly scanning. Sixty-eight percent of Down's syndrome cases (range 0–95%) were detected prenatally, of which 88% resulted in termination of pregnancy. Eighty-eight percent (range 25–94%) of cases of NTD were prenatally detected, of which 88% resulted in termination. Countries with a first-trimester screening policy had the highest proportion of prenatally diagnosed Down's syndrome cases. Countries with no official national Down's syndrome screening or structural anomaly scan policy had the lowest proportion of prenatally diagnosed Down's syndrome and NTD cases. Six of the 18 countries had a legal gestational age limit for TOPFA, and in two countries, termination of pregnancy was illegal at any gestation. Conclusions There are large differences in screening policies between countries in Europe. These, as well as organisational and cultural factors, are associated with wide country variation in prenatal detection rates for Down's syndrome and NTD. Please cite this paper as: Boyd P, DeVigan C, Khoshnood B, Loane M, Garne E, Dolk H, and the EUROCAT working group. Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome. BJOG 2008;115:689–696.

To investigate whether first trimester exposure to lamotrigine (LTG) monotherapy is specifically associated with an increased risk of orofacial clefts (OCs) relative to other malformations, in response to a signal regarding increased OC risk. Population-based case- control study with malformed controls based on EUROCAT congenital anomaly registers. The study population covered 3.9 million births from 19 registries 1995-2005. Registrations included congenital anomaly among livebirths, stillbirths, and terminations of pregnancy following prenatal diagnosis. Cases were 5, 511 nonsyndromic OC registrations, of whom 4, 571 were isolated, 1, 969 were cleft palate (CP), and 1, 532 were isolated CP. Controls were 80, 052 nonchromosomal, non-OC registrations. We compared first trimester LTG and antiepileptic drug (AED) use vs nonepileptic non-AED use, for mono and polytherapy, adjusting for maternal age. An additional exploratory analysis compared the observed and expected distribution of malformation types associated with LTG use. There were 72 LTG exposed (40 mono- and 32 polytherapy) registrations. The ORs for LTG monotherapy vs no AED use were 0.67 (95% CI 0.10-2.34) for OC relative to other malformations, 0.80 (95% CI 0.11-2.85) for isolated OC, 0.79 (95% CI 0.03- 4.35) for CP, and 1.01 (95% CI 0.03-5.57) for isolated CP. ORs for any AED use vs no AED use were 1.43 (95% CI 1.03-1.93) for OC, 1.21 (95% CI 0.82-1.72) for isolated OC, 2.37 (95% CI 1.54- 3.43) for CP, and 1.86 (95% CI 1.07-2.94) for isolated CP. The distribution of other nonchromosomal malformation types with LTG exposure was similar to non-AED exposed. We find no evidence of a specific increased risk of isolated orofacial clefts relative to other malformations due to lamotrigine (LTG) monotherapy. Our study is not designed to assess whether there is a generalized increased risk of malformations with LTG exposure.

Background European Surveillance of Congenital Anomalies (EUROCAT) is a network of population-based congenital anomaly registries in Europe surveying more than I million births per year, or 25% of the births in the European Union. This paper describes the potential of the EUROCAT collaboration for pharmacoepidemiology and drug safety surveillance.Methods The 34 full members and 6 associate members of the EUROCAT network were sent a questionnaire about their data sources on drug exposure and on drug coding. Available data on drug exposure during the first trimester available in the central EUROCAT database for the years 1996-2000 was summarised for 15 out of 25 responding full members.Results Of the 40 registries, 29 returned questionnaires (25 full and 4 associate members). Four of these registries do not collect data on maternal drug use. Of the full members, 15 registries use the EUROCAT drug code, 4 use the international ATC drug code, 3 registries use another coding system and 7 use a combination of these coding systems. Obstetric records are the most frequently used sources of drug information for the registries, followed by interviews with the mother. Only one registry uses pharmacy data. Percentages of cases with drug exposure (excluding vitamins/minerals) varied from 4.4% to 26.0% among different registries. The categories of drugs recorded varied widely between registries.Conclusions Practices vary widely between registries regarding recording drug exposure information. EUROCAT has the potential to be an effective collaborative framework to contribute to post-marketing drug surveillance in relation to teratogenic effects, but work is needed to implement ATC drug coding more widely, and to diversify the sources of information used to determine drug exposure in each registry. Copyright (c) 2006 John Wiley & Sons, Ltd.

Background: Neural Tube Defects (NTDs) are among the most commonly occurring fetal abnormalities and although it has been established for a decade that periconceptional folic acid supplementation reduces the risk of both recurrence and of first occurrence, implementation has proved to be and enormous public health challenge. This has been met in a variety of ways in different parts of the world with varying degrees of success. The aim of this study was to establish what action was being taken across Europe in relation to periconceptional folic acid supplementation and what effect this was having on the prevalence of NTDs in Europe. Methods: EUROCAT is a network of 36 congenital anomaly registries in Europe collaborating in the epidemiological surveillance of congenital anomalies. Representatives from 17 countries participating in EUROCAT agreed to provide information about the folic acid situation in their country, and NTD rates were extracted form Central Registry database for 1980-1999. Findings presented here are preliminary. Results: At the beginning of 2001, official governmental recommendation that women planning a pregnancy should take 0.4 mg of folic acid supplementation daily was in operation in ten of the 17 countries. The earliest of those countries to introduce an official supplementation policy was the UK in 1992 and the latest was Spain in 2001. In the remaining seven participating countries, no official government recommendation about supplementation was in place, however, professional bodies within a subset had in fact recommended supplementation. While foods fortified with folic acid are available in many of the countries surveyed, only Germany has legislation covering fortification (100 g of grain must be fortified with not less than 30 μ g of folic acid). Mandatory fortification is currently under consideration in Denmark, Switzerland and the United Kingdom. Only six countries had official health education initiatives: UK, Ireland, France, Netherlands, Norway and Denmark. Studies in most countries suggest that the majority of women remained unaware of the protective effect of folic acid and only a tiny minority took it at the appropriate time. Women in Ireland, the UK and Norway were found to be more likely to know about and take supplementation. Commencement of folic acid supplementation may be affected by the mother's approach to "planning" pregnancy. In most countries, it is not known what percentage of pregnancies are "planned". In Germany, a number of studies found that between 66-72% of pregnancies were "planned", estimates were found to be lower elsewhere. The prevalence of NTDs (including terminations) has not shown any steady decline in the 1990s across Europe. Conclusions: The potential for preventing neural tube defects by periconceptional folic acid supplementation is still far from being fulfilled in Europe.

OBJECTIVE: To describe prevalence, prenatal diagnosis and epidemiological data on oesophageal atresia from 23 well-defined European regions and compare the prevalence between these regions.DESIGN: Population-based study using data from a large European database for surveillance of congenital anomalies (EUROCAT) for two decades (1987-2006).SETTINGS: Twenty-three participating registries based on multiple sources of information including information about live births, fetal deaths with gestational age ≥20 weeks and terminations of pregnancy.PATIENTS: 1222 cases of oesophageal atresia in a population of 5 019 804 births.RESULTS: The overall prevalence was 2.43 cases per 10 000 births (95% CI 2.30 to 2.57). There were regional differences in prevalence ranging from 1.27 to 4.55. Prenatal detection rates varied by registry from >50% of cases to CONCLUSION: There were regional differences in prevalence of oesophageal atresia in Europe. Half of all cases had associated anomalies. Prenatal detection rate increased from 26% to 36.5% over the two decades. Survival in infants with isolated oesophageal atresia born at term is high.