The Prevalence of Congenital Anomalies in Europe
ABSTRACT EUROCAT (European Surveillance of Congenital Anomalies) is the network of population-based registers of congenital anomaly in Europe, with a common protocol and data quality review, covering 1.5 million annual births in 22 countries. EUROCAT recorded a total prevalence of major congenital anomalies of 23.9 per 1,000 births for 2003-2007. 80% were livebirths. 2.5% of livebirths with congenital anomaly died in the first week of life. 2.0% were stillbirths or fetal deaths from 20 weeks gestation. 17.6% of all cases were terminations of pregnancy following prenatal diagnosis (TOPFA). Thus, congenital anomalies overwhelmingly concern children surviving the early neonatal period, who have important medical, social or educational needs. The prevalence of chromosomal anomalies was 3.6 per 1,000 births, contributing 28% of stillbirths/fetal deaths from 20 weeks gestation with congenital anomaly, and 48% of all TOPFA. Congenital heart defects (CHD) were the most common non-chromosomal subgroup, at 6.5 per 1,000 births, followed by limb defects (3.8 per 1,000), anomalies of urinary system (3.1 per 1,000) and nervous system defects (2.3 per 1,000). In 2004, perinatal mortality associated with congenital anomaly was 0.93 per 1,000 births, and TOPFA 4.4 per 1,000 births, with considerable country variation. Primary prevention of congenital anomalies in the population based on controlling environmental risk factors is a crucial policy priority, including preconceptional care and whole population approaches.
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ABSTRACT: Tetralogy of Fallot (TOF) (OMIM #187500) is the most frequent conotruncal congenital heart defect (CHD) with a range of intra- and extracardiac phenotypes. TBX5 is a transcription factor with well-defined roles in heart and forelimb development, and mutations in TBX5 are associated with Holt–Oram syndrome (HOS) (OMIM#142900). Here we report on the screening of 94 TOF patients for mutations in TBX5, NKX2.5 and GATA4 genes. We identified two heterozygous mutations in TBX5. One mutation was detected in a Moroccan patient with TOF, a large ostium secundum atrial septal defect and complete atrioventricular block, and features of HOS including bilateral triphalangeal thumbs and fifth finger clinodactyly. This patient carried a previously described de novo, stop codon mutation (p.R279X) located in exon 8 causing a premature truncated protein. In a second patient from Italy with TOF, ostium secundum atrial septal defect and progressive arrhythmic changes on ECG, we identified a maternally inherited novel mutation in exon 9, which caused a substitution of a serine with a leucine at amino acid position 372 (p.S372L, c.1115C>T). The mother's clinical evaluation demonstrated frequent ventricular extrasystoles and an atrial septal aneurysm. Physical examination and radiographs of the hands showed no apparent skeletal defects in either child or mother. Molecular evaluation of the p.S372L mutation demonstrated a gain-of-function phenotype. We also review the literature on the co-occurrence of TOF and HOS, highlighting its relevance. This is the first systematic screening for TBX5 mutations in TOF patients which detected mutations in two of 94 (2.1%) patients. © 2014 Wiley Periodicals, Inc.American Journal of Medical Genetics Part A 12/2014; 164(12). DOI:10.1002/ajmg.a.36783 · 2.05 Impact Factor
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ABSTRACT: To determine the impact of maternal age, consanguinity, season of conception and variation in the amount of amniotic fluid for the appearance of anomalies associated with neural tube defects (NTDs). 150 NTD fetuses, a result from autopsies (macroscopic autopsy; microscopic study of biopsy fragments; macro and microscopic brain examination), have been examined during a period of three years (01.2006, 01.2009), in the Clinic of Fetopathology, at the Center of Maternity and Neonatology - Tunisia. Anomalies associated with NTDs occur three times more often in pregnancies with an abnormal amount of amniotic fluid. Also, their likelihood of cardiovascular and reproductive system anomalies is increased four times. Nearly 80% of the NTD fetuses conceived during the autumn-winter period have acrania. Women older than 35, are twice more likely to have underweight children and children with defects of the digestive system and hand. They are also three times more likely to have fetuses with endocrine system abnormalities. Anomalies incompatible with life occur twice as often in consanguineous unions. The mother's age, consanguinity, season of conception, and variation in the amount of amniotic fluid have considerable impact on the emergence of associated anomalies in fetuses with NTDs.Central European Journal of Medicine 12/2013; Volume 8(Issue 6). DOI:10.2478/s11536-013-0238-6 · 0.21 Impact Factor
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ABSTRACT: This study aims to explore practice, use, and risk of electroconvulsive therapy (ECT) in pregnancy. A systematic search was undertaken in the databases Medline, Embase, PsycINFO, SveMed and CINAHL (EBSCO). Only primary data-based studies reporting ECT undertaken during pregnancy were included. Two reviewers independently checked study titles and abstracts according to inclusion criteria and extracted detailed use, practice, and adverse effects data from full text retrieved articles. Studies and extracted data were sorted according to before and after year 1970, due to changes in ECT administration over time. A total of 67 case reports were included and studies from all continents represented. Altogether, 169 pregnant women were identified, treated during pregnancy with a mean number of 9.4 ECTs, at mean age of 29 years. Most women received ECT during the 2nd trimester and many were Para I. Main diagnostic indication in years 1970 to 2013 was Depression/Bipolar disorder (including psychotic depression). Missing data on fetus/child was 12 %. ECT parameter report was often sparse. Both bilateral and unilateral electrode placement was used and thiopental was the main anesthetic agent. Adverse events such as fetal heart rate reduction, uterine contractions, and premature labor (born between 29 and 37 gestation weeks) were reported for nearly one third (29 %). The overall child mortality rate was 7.1 %. Lethal outcomes for the fetus and/or baby had diverse associations. ECT during pregnancy is advised considered only as last resort treatment under very stringent diagnostic and clinical indications. Updated international guidelines are urgently needed.Archives of Women s Mental Health 11/2013; 18(1). DOI:10.1007/s00737-013-0389-0 · 1.96 Impact Factor