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. FUNDING, COMPETING INTERESTS, DATA SHARING: 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. No additional data available.

• MeSH
• Neural Tube Defects * epidemiology   prevention & control   MeSH
• Pregnancy Complications * epidemiology   etiology   prevention & control   MeSH
• Folic Acid therapeutic use   MeSH
• Humans MeSH
• Live Birth epidemiology   MeSH
• Needs Assessment MeSH
• Fetal Death MeSH
• Abortion, Eugenic statistics & numerical data   MeSH
• Food Assistance MeSH
• Dietary Supplements statistics & numerical data   MeSH
• Prevalence MeSH
• Pregnancy MeSH
• Vitamin B Complex therapeutic use   MeSH
• Pregnancy Outcome epidemiology   MeSH
• Policy Making MeSH
• Check Tag
• Humans MeSH
• Pregnancy MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Observational Study MeSH
• Research Support, Non-U.S. Gov't MeSH
• Geographicals
• Europe MeSH

Úvod: Vrozené srdeční vady jsou nejčastější vývojovou vadou plodu. Detekce vrozených srdečních vad u plodu je založena na propojení screeningového a specializovaného echokardiografického vyšetření. Metodika: Pro posouzení úspěšnosti prenatálního záchytu srdečních vad používáme srovnání s prospektivní studií BOSS o postnatální prevalenci vad v ČR. Prevalence všech srdečních vad byla 6,16 na 1 000 živě narozených dětí a kritických 2,36/1 000 živě narozených dětí. Výsledky: V České republice se v období 1986-2012 intrauterinně odhalilo 2 996 plodů se srdeční vadou. V posledních 5 letech se záchytnost vad srdce pohybuje v rozmezí 39-47 % a detekce kritických vad přesáhla 80 % z očekávaného počtu VSV. Z celkového počtu fetálně detekovaných VSV se 1 612 (54 %) těhotných rozhodlo pro ukončení gravidity, z nichž 49 % mělo další extrakardiální vadu. Narodilo se 1 296 dětí s prenatální diagnózou VSV (43 %) a 90 plodů (3 %) zemřelo intrauterinně. Vzhledem k vysoké četnosti ukončení gravidity se mění postnatální spektrum srdečních vad. Snižuje se počet dětí s diagnózou syndromu hypoplázie levého srdce, atrioventrikulárním defektem, atrézií plicnice, společným arteriálním trunkem, společnou komorou a Ebsteinovou anomálií. Závěr: Prenatální echokardiografie prováděná v celé České republice umožňuje v posledních letech detekci až 47 % všech a více než 80 % kritických srdečních vad. Vysoký počet ukončených těhotenství je nejspíše důsledkem závažnosti srdečních vad a četných přidružených vývojových abnormalit. Četnost ukončení gravidity má vliv na postnatální spektrum srdečních vad, kdy ubývá závažných nebo komplexních srdečních onemocnění (syndromu hypoplázie levého srdce a dalších).

Introduction: Congenital heart defects (CHD) represents the most frequent congenital malformation. Prenatal detection of heart lesions is based on cooperation of screening and specialized echocardiographic examination. Methods: To assess the success of prenatal detection of heart defects (CHD) we compared the number of prenatal diagnosis with a known prevalence of CHD at birth as determined by prospective Bohemian „BOSS“ study. The study established prevalence of all CHD at birth 6.16 per 1 000 liveborn newborns and 2.36 of those with critical forms. Results: Between 1986 and 2012 were evaluated 2 996 of foetuses with congenital heart defects. A detection rate of CHD reached 47% during recent five years and detection of critical forms exceeded 80%. 1 612 (54%) mothers of foetuses with CHD opted for termination of pregnancy, 49% of them had an extracardiac heart malformations. 1 296 (43%) newborns were born with prenatally detected heart lesion and 90 (3%) foetuses died in utero. Due to high termination rate of foetuses with CHD the number of children with several complexed heart lesions declined (hypoplastic left heart syndrome, pulmonary atresia, single ventricle, persistent arterial trunk, atrioventricular defect and Ebstein anomaly). Conclusion: The nationwide prenatal ultrasound screening programme enabled detection of 43% of all CHD in recent years. Owing to severity of lesions and associated extracardiac malformations and cultural background, termination rate of foetuses with CHD remains high. High termination rate lead to significant decrease of postnatal incidence of several complex and severe CHD (such as hypoplastic left heart syndrome).

• MeSH
• Echocardiography * statistics & numerical data   MeSH
• Humans MeSH
• Infant, Newborn MeSH
• Mass Screening organization & administration   statistics & numerical data   MeSH
• Abortion, Eugenic statistics & numerical data   MeSH
• Pregnancy MeSH
• Ultrasonography, Prenatal * statistics & numerical data   MeSH
• Heart Defects, Congenital epidemiology   prevention & control   ultrasonography   MeSH
• Check Tag
• Humans MeSH
• Infant, Newborn MeSH
• Pregnancy MeSH
• Female MeSH

OBJECTIVES: Antidepressant drugs are used frequently during pregnancy. The risk assessment of SSRI exposure is still evaluated and re-opened due to studies indicating possible increase of inborn defects, neonatal abstinence syndrome and cognitive ability or behavioral defects. METHODS: In our study, we prospectively followed groups of pregnancies in years 2002-2009, that were exposed to SSRI. As control group we used 1) women exposed to new atypical antidepressant and anti-psychotics - APD (risperidone, mirtazapine, venlafaxine, trazodone, aripiprazole, ziprasidone, olanzapine), 2) women exposed to nonteratogenic drugs and 3) the general population according to Institute of Health Informations and Statistics (ÚZIS.) Data were analyzed using software Statistica for Windows No.5.5. RESULTS: The total number of queries on psychotropic drugs performs in CZTIS more than 30% of all calls, constantly. We enrolled a total of 43 women exposed to SSRI and 37 women (1x twins) exposed to new psychotropic drugs (APD) in the study. Exposure to SSRI was often associated with poly-therapy. The most frequent SSRI used were citalopram and/or escitalopram (56%), and setraline (26%). Other SSRI were used sporadically. We observed significantly higher frequency of elective terminations in group of SSRI and higher frequency of abortions a prematurity in APD group. Frequency of malformations does not varied, being in all groups in expected range. CONCLUSIONS: We confirmed that SSRI exposure during pregnancy was not associated with the higher risk of major malformation. However, number of cases was low and did not allow the statistical treatment with higher power.

• MeSH
• Antidepressive Agents adverse effects   therapeutic use   MeSH
• Depression drug therapy   epidemiology   MeSH
• Drug Information Services organization & administration   MeSH
• Pregnancy Complications drug therapy   epidemiology   MeSH
• Humans MeSH
• Maternal Exposure adverse effects   statistics & numerical data   MeSH
• Stillbirth epidemiology   MeSH
• Infant, Newborn, Diseases epidemiology   MeSH
• Infant, Newborn MeSH
• Abortion, Eugenic statistics & numerical data   MeSH
• Prospective Studies MeSH
• Pregnancy Trimester, First drug effects   MeSH
• Abortion, Spontaneous epidemiology   MeSH
• Selective Serotonin Reuptake Inhibitors adverse effects   therapeutic use   MeSH
• Case-Control Studies MeSH
• Pregnancy MeSH
• Teratology organization & administration   MeSH
• Congenital Abnormalities epidemiology   MeSH
• Check Tag
• Humans MeSH
• Infant, Newborn MeSH
• Pregnancy MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Evaluation Study MeSH
• Research Support, Non-U.S. Gov't MeSH
• Geographicals
• Czech Republic MeSH

V práci jsou prezentovány aktuální výsledky prenatální diagnostiky vrozených vad v České republice v období 1994 – 2008. V první části je rozbor prenatální diagnostiky podle toho, zda došlo k předčasnému ukončení gravidity (sekundární prevence) či nikoliv. V další části je analýza jednak podle použité metody prenatální diagnostiky (amniocentéza /AMC/, odběr choriových klků /CVS/), jednak podle efektivity jednotlivých metod pro diagnostiku Downova syndromu. Na závěr jsou ukázány aktuální počty prenatálně diagnostikovaných případů vybraných vrozených vad a efektivita prenatální diagnostiky chromozomálních aberací (Downův, Edwardsův a Patauův syndrom).

Current results of birth defects prenatal diagnostics in the Czech Republic over the 1994 – 2008 period are presented. In a first part of the study prenatal diagnostics is analyzed according to a pregnancy outcome or a possible pregnancy termination, respectively. Further, an analysis according to a prenatal diagnostic method in use (amniocentesis vs CVS) and their efficiency towards Down syndrome is provided. Finally, current total numbers of prenatally diagnosed cases of selected birth defects and an efficiency of prenatal diagnostics of chromosomal aberrations (Down. Edwards and Patau syndromes) are presented.

• MeSH
• Amniocentesis statistics & numerical data   MeSH
• Down Syndrome diagnosis   MeSH
• Humans MeSH
• Chromosomes, Human, Pair 13 genetics   MeSH
• Chromosomes, Human, Pair 18 genetics   MeSH
• Chorionic Villi Sampling statistics & numerical data   MeSH
• Abortion, Eugenic statistics & numerical data   MeSH
• Prenatal Diagnosis methods   statistics & numerical data   MeSH
• Pregnancy Trimester, First genetics   MeSH
• Pregnancy MeSH
• Trisomy diagnosis   pathology   MeSH
• Check Tag
• Humans MeSH
• Pregnancy MeSH
• Female MeSH
• Publication type
• Validation Study MeSH

Downův syndrom je nejčastější uváděnou příčinou mentální retardace v dětském věku a nejčastější z prenatálně diagnostikovaných vrozených chromozomálních aberací. Z tohoto důvodu se prenatální diagnostika od svého počátku cíleně zaměřila na prenatální diagnostiku této chromozomální aberace. Postupně se rozvíjející metody invazivní prenatální diagnostiky umožnily prenatální záchyt Downova syndromu. V souvislosti se zaváděním těchto metod byla snaha rozvíjet i screeningové testy a screeningové programy. Vývoj prenatální diagnostiky v České republice vždy odrážel celosvětový vývoj v této diagnostice. Aktuálně dosahované výsledky v posledních letech ukazují, že celoplošně používaný druhotrimestrální screening je již v řadě center doplněn kombinovaným screeningem prvého trimestru, který má záchytnost až 90–95 %. Tomu odpovídá i snižování průměrného týdne těhotenství při diagnostice Downova syndromu. V České republice je nejen vysoká záchytnost Downova syndromu prenatální diagnostikou, ale i velmi dobré celorepublikové rovnoměrné využívání těchto metod.

Down's syndrome is the most commonly reported cause of mental retardation in children as well as the most frequently diagnosed constitutional chromosomal aberration. For that reason, prenatal diagnosis particularly targeted its effort on this chromosomal defect. The gradual development of invasive techniques of prenatal diagnostics made reliable prenatal diagnosis of Down's syndrome possible. Along with the development of these techniques there was a constant effort to introduce screening tests and screening programmes. The progress of prenatal diagnosis in the Czech Republic always reflected the worldwide advancement in this field. Recent results show that a population-wide second trimester screening is, in many prenatal diagnostic centres, completed with a combined first trimester screening, which has a detection rate of 90 – 95 %. This trend corresponds with a decrease in mean gestational age at the time of Down's syndrome prenatal diagnosis. In the Czech Republic, there is not only a high prenatal detection rate of Down's syndrome, but also an evenly distributed nationwide use of the above mentioned techniques.

• MeSH
• Amniocentesis MeSH
• Down Syndrome history   genetics   MeSH
• Evaluation Studies as Topic MeSH
• Humans MeSH
• Chorionic Villi Sampling MeSH
• Abortion, Eugenic statistics & numerical data   MeSH
• Prenatal Diagnosis history   methods   MeSH
• Sensitivity and Specificity MeSH
• Pregnancy MeSH
• Ultrasonography, Prenatal MeSH
• Check Tag
• Humans MeSH
• Pregnancy MeSH
• Female MeSH
• Geographicals
• Czech Republic MeSH

• MeSH
• Child MeSH
• Incidence MeSH
• Infant MeSH
• Humans MeSH
• Infant, Newborn MeSH
• Abortion, Eugenic statistics & numerical data   MeSH
• Prenatal Diagnosis MeSH
• Congenital Abnormalities diagnosis   epidemiology   MeSH
• Check Tag
• Child MeSH
• Infant MeSH
• Humans MeSH
• Infant, Newborn MeSH
• Geographicals
• Czech Republic MeSH