Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980-2017.

Background: Gastroschisis is a serious birth defect with midgut prolapse into the amniotic cavity. The objectives of this study were to evaluate the prevalence and time trends of gastroschisis among programs in the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), focusing on regional variations and maternal age changes in the population.

Methods: We analyzed data on births from 1980 to 2017 from 27 ICBDSR member programs, representing 24 countries and three regions (Europe , Latin America, North America).

Prevention of Neural Tube Defects in Europe: A Public Health Failure.

Thirty years ago it was demonstrated that folic acid taken before pregnancy and in early pregnancy reduced the risk of a neural tube defect (NTD). Despite Public Health Initiatives across Europe recommending that women take 0.4 mg folic acid before becoming pregnant and during the first trimester, the prevalence of NTD pregnancies has not materially decreased in the EU since 1998, in contrast to the dramatic fall observed in the USA.

Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs.

Background: Esophageal atresia (EA) affects around 2.3-2.6 per 10,000 births world-wide.

Prevalence and mortality in children with congenital diaphragmatic hernia: a multicountry study.

Purpose: This study determined the prevalence, mortality, and time trends of children with congenital diaphragmatic hernia (CDH).

Methods: Twenty-five hospital- and population-based surveillance programs in 19 International Clearinghouse for Birth Defects Surveillance and Research member countries provided birth defects mortality data between 1974 and 2015. CDH cases included live births, stillbirths, or elective termination of pregnancy for fetal anomalies.

A multi-country study of prevalence and early childhood mortality among children with omphalocele.

Background: Omphalocele is the second most common abdominal birth defect and often occurs with other structural and genetic defects. The objective of this study was to determine omphalocele prevalence, time trends, and mortality during early childhood, by geographical region, and the presence of associated anomalies.

Methods: We conducted a retrospective study with 23 birth defect surveillance systems in 18 countries who are members of the International Clearinghouse for Birth Defects Surveillance and Research that submitted data on cases ascertained from 2000 through 2012, approximately 16 million pregnancies were surveyed that resulted in live births, stillbirths, or elective terminations of pregnancy for fetal anomalies (ETOPFA) and cases with omphalocele were included.

Analysis of Mortality among Neonates and Children with Spina Bifida: An International Registry-Based Study, 2001-2012.

Background: Medical advancements have resulted in better survival and life expectancy among those with spina bifida, but a significantly increased risk of perinatal and postnatal mortality for individuals with spina bifida remains.

Objectives: To examine stillbirth and infant and child mortality among those affected by spina bifida using data from multiple countries.

Methods: We conducted an observational study, using data from 24 population- and hospital-based surveillance registries in 18 countries contributing as members of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR).

Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis.

The aim of the study is to determine the prevalence, outcomes, and survival (among live births [LB]), in pregnancies diagnosed with trisomy 13 (T13) and 18 (T18), by congenital anomaly register and region. Twenty-four population- and hospital-based birth defects surveillance registers from 18 countries, contributed data on T13 and T18 between 1974 and 2014 using a common data-reporting protocol. The mean total birth prevalence (i.

Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980-2010.

Background: Hypospadias is a common male birth defect that has shown widespread variation in reported prevalence estimates. Many countries have reported increasing trends over recent decades.

Objective: To analyze the prevalence and trends of hypospadias for 27 international programs over a 31-yr period.

Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study.

Objectives: To assess international trends and patterns of prenatal diagnosis of critical congenital heart defects (CCHDs) and their relation to total and live birth CCHD prevalence and mortality.

Setting: Fifteen birth defect surveillance programmes that participate in the International Clearinghouse for Birth Defects Surveillance and Research from 12 countries in Europe, North and South America and Asia.

Participants: Live births, stillbirths and elective terminations of pregnancy for fetal anomaly diagnosed with 1 of 12 selected CCHD, ascertained by the 15 programmes for delivery years 2000 to 2014.

Congenital anomalies in children born in the Czech Republic in 1994-2015.

ÚVOD Populace je v současné vystavena různým zevním vlivům, ze kterých mohou vyplývat i různá zdravotní rizika. Jedním z možných je i riziko vzniku vrozené vady (VV). Z hlediska studia zdravotního stavu populace je důležitá znalost nejen průměrných celkových incidencí VV, ale i případných změn těchto incidencí v průběhu času.

Prenatal diagnostics of chromosomal aberrations in the Czech Republic: Actual data and important trends.

The main goal of this study was to analyse the spectrum of chromosomal aberrations that were diagnosed during prenatal diagnostics in the Czech Republic in 2016. We present a retrospective epidemiological analysis that is based on the official data from the National Registry of Congenital Anomalies that is run by the Institute of Health Information and Statistics of the Czech Republic. Additional data were obtained actively from the departments of medical genetics and prenatal diagnostics under the guidance of the Czech Society of Medical Genetics and Genomics.

Long term trends in prevalence of neural tube defects in Europe: population based study.

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.

Pericentric Inversion of Human Chromosome 9 Epidemiology Study in Czech Males and Females.

Pericentric inversion of human chromosome 9 [inv(9)] is a relatively common cytogenetic finding. It is largely considered a clinically insignificant variant of the normal human karyotype. However, numerous studies have suggested its possible association with certain pathologies, e.

[Prevalence of selected congenital anomalies in the Czech Republic: congenital anomalies of the central nervous system and gastrointestinal tract].

Objective: Analysis of the prevalence of selected congenital anomalies in the Czech Republic in 1994-2009.

Design: Retrospective epidemiological analysis of the postnatal and overall (including prenatally diagnosed cases) prevalence of congenital anomalies from the database of the National Registry of Congenital Anomalies of the Czech Republic.

Material And Methods: Data from the National Registry of Congenital Anomalies (NRCA) maintained by the Institute of Health Information and Statistics of the Czech Republic (IHIS CR) were used.

Major congenital anomalies in babies born with Down syndrome: a EUROCAT population-based registry study.

Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome.

Hirschsprung's disease prevalence in Europe: a register based study.

Background: Hirschsprung's disease is a congenital gut motility disorder, characterised by the absence of the enteric ganglion cells along the distal gut. The aim of this study was to describe the epidemiology of Hirschsprung's disease, including additional congenital anomalies, total prevalence, trends, and association with maternal age.

Methods: Cases of Hirschsprung's disease delivered during 1980 to 2009 notified to 31 European Surveillance of Congenital Anomaly registers formed the population-based case-series.

Heterochromatin variants in human karyotypes: a possible association with reproductive failure.

Heterochromatin variants are commonly found during cytogenetic examinations, and chromosomes 1, 9, 16 and Y are commonly involved in these variations. These variants are believed to be clinically insignificant variations in human karyotypes. Nevertheless, reproductive failure has been frequently discussed as possibly being associated with these variants.

Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome.

Marfan syndrome (MFS) is an autosomal dominant disorder caused by mutations in the fibrillin 1 gene (FBN1). Neonatal form of MFS is rare and is associated with severe phenotype and a poor prognosis. We report on a newborn girl with neonatal MFS who displayed cyanosis and dyspnea on the first day of life.