Children with Hirschsprung's disease have high morbidity in the first 5 years of life.

Background: Hirschsprung's disease is a rare congenital anomaly of the colon with absence of the ganglionic nerve cells. The treatment of the anomaly is surgical.

Methods: This population-based data-linkage cohort study was part of the EUROlinkCAT project and investigated mortality and morbidity for the first 5 years of life for European children diagnosed with Hirschsprung's disease.

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).

Timing of Cardiac Surgical Interventions and Postoperative Mortality in Children With Severe Congenital Heart Defects Across Europe: Data From the EUROlinkCAT Study.

Background: The purpose of this study was to evaluate the timing of the first cardiac surgery, the number of cardiac surgeries performed, and 30-day postoperative mortality rate for children with severe congenital heart defects (sCHDs) in their first 5 years of life.

Methods And Results: This was a population-based data linkage cohort study linking information from 9 European congenital anomaly registries to vital statistics and hospital databases. Data were extracted for 5693 children with sCHDs born from 1995 to 2004.

Surveillance of multiple congenital anomalies; searching for new associations.

Many human teratogens are associated with a spectrum of congenital anomalies rather than a single defect, and therefore the identification of congenital anomalies occurring together more frequently than expected may improve the detection of teratogens. Thirty-two EUROCAT congenital anomaly registries covering 6,599,765 births provided 123,566 cases with one or more major congenital anomalies (excluding chromosomal and genetic syndromes) for the birth years 2008-2016. The EUROCAT multiple congenital anomaly algorithm identified 8804 cases with two or more major congenital anomalies in different organ systems, that were not recognized as part of a syndrome or sequence.

European study showed that children with congenital anomalies often underwent multiple surgical procedures at different ages across Europe.

Aim: Children with congenital anomalies often require surgery but data on the burden of surgery for these children are limited.

Methods: A population-based record-linkage study in Finland, Wales and regions of Denmark, England, Italy and Spain. A total of 91 504 children with congenital anomalies born in 1995-2014 were followed to their tenth birthday or the end of 2015.

Amniotic band syndrome and limb body wall complex in Europe 1980-2019.

Amniotic band syndrome (ABS) and limb body wall complex (LBWC) have an overlapping phenotype of multiple congenital anomalies and their etiology is unknown. We aimed to determine the prevalence of ABS and LBWC in Europe from 1980 to 2019 and to describe the spectrum of congenital anomalies. In addition, we investigated maternal age and multiple birth as possible risk factors for the occurrence of ABS and LBWC.

Cross-sectional study to assess awareness of cytomegalovirus infection among pregnant women in Germany.

Background: Study aimed to assess awareness of congenital cytomegalovirus (CMV) infection and its determinants in pregnancy.

Methods: Cross-sectional survey was conducted in five hospital-based maternity units in Germany. Pregnant women attending the maternity departments completed interviewer/self-administered survey questionnaire.

Temporal and geographical variations in survival of children born with congenital anomalies in Europe: A multi-registry cohort study.

Background: Congenital anomalies are a major cause of perinatal, neonatal and infant mortality.

Objectives: The aim was to investigate temporal changes and geographical variation in survival of children with major congenital anomalies (CA) in different European areas.

Methods: In this population-based linkage cohort study, 17 CA registries members of EUROCAT, the European network for the surveillance of CAs, successfully linked data on 115,219 live births with CAs to mortality records.

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.

Macrolide and lincosamide antibiotic exposure in the first trimester of pregnancy and risk of congenital anomaly: A European case-control study.

This study investigated the risk of congenital heart defects (CHD) and other congenital anomalies (CA) associated with first trimester use of macrolide antibiotics (mainly erythromycin, spiramycin, clarithromycin and azithromycin) and lincosamides (clindamycin) using a case-malformed control design. Data included 145,936 babies with a CA diagnosis (livebirths, stillbirths and terminations of pregnancy for CA) from 15 population-based EUROCAT registries in 13 European countries, covering 9 million births 1995-2012. Cases were babies with CHD, anencephaly, orofacial clefts, genital and limb reduction anomalies associated with antibiotic exposure in the literature.

Periconceptional folic acid supplement use among women of reproductive age and its determinants in central rural Germany: Results from a cross sectional study.

Background: Prevalence of neural tube defects (NTD) has not decreased in Germany despite longstanding recommendations for folic acid supplementation. To examine the prevalence of periconceptional folic acid supplement use and associated factors among German women of reproductive age.

Methods: Cross-sectional survey was conducted in hospital-based maternity units in rural Germany.

The Communication Between the PI3K/AKT/mTOR Pathway and Y-box Binding Protein-1 in Gynecological Cancer.

Studies of the mechanistic (mammalian) target of rapamycin inhibitors (mTOR) represent a step towards the targeted treatment of gynecological cancers. It has been shown that women with increased levels of mTOR signaling pathway targets have worse prognosis compared to women with normal mTOR levels. Yet, targeting mTOR alone has led to unsatisfactory outcomes in gynecological cancer.

The impact of neuropsychiatric disease on fetal growth: a case-control study.

Purpose: To determine the impact of depression, epilepsy and drug abuse during pregnancy on delivery and fetal outcome. Due to the worldwide increasing prevalence of neurological and psychiatric diseases and drug abuse, the number of affected pregnant women is increasing.

Methods: A large-scale retrospective case-control analysis of pregnancies affected by depression, epilepsy or drug abuse with and without medication was conducted in two German perinatal centres between 2013 and 2017.

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.

Multicentre approach to epidemiological aspects of craniosynostosis in Germany.

We know of no current published data on the prevalence of craniosynostosis in Germany, so our objective in this study was to contribute to the limited knowledge of its epidemiology by assessing time trends, the frequency of prenatal diagnosis, and the timing of diagnosis and treatment. Data were collected in Saxony-Anhalt during the period 2000-17, and we designed a retrospective multicentre cohort study. The prevalence was 4.

Metformin exposure in first trimester of pregnancy and risk of all or specific congenital anomalies: exploratory case-control study.

Objective: To investigate whether exposure to metformin during the first trimester of pregnancy, for diabetes or other indications, increases the risk of all or specific congenital anomalies.

Design: Population based exploratory case-control study using malformed controls. Cases of 29 specific subgroups of non-genetic anomalies, and all non-genetic anomalies combined, were compared with controls (all other non-genetic anomalies or genetic syndromes).