Birth defects research. Part A, Clinical and molecular teratology最新文献

{"title":"Red Blood Cell Folate Insufficiency among nonpregnant Women of Childbearing age in Guatemala 2009 to 2010: Prevalence and predicted Neural Tube Defects risk.","authors":"J. Rosenthal, Mary-Elizabeth Reeve, N. Ramírez, Krista S. Crider, J. Sniezek, C. Vellozzi, O. Devine, E. Lopez-Pazos","doi":"10.1002/bdra.23499","DOIUrl":"https://doi.org/10.1002/bdra.23499","url":null,"abstract":"BACKGROUND\u0000The World Health Organization recently released recommendations stating that red blood cell (RBC) folate concentrations should be above 400 ng/L (906 nmol/L) for optimal prevention of folate-sensitive neural tube defects (NTDs). The objective of this study was to determine the distribution of folate insufficiency (FI) (<906 nmol/L) and potential risk of NTDs based on RBC folate concentrations among nonpregnant women of child-bearing age in Guatemala.\u0000\u0000\u0000METHODS\u0000A national and regional multistage cluster probability survey was completed during 2009 to 2010 among Guatemalan women of child-bearing age 15 to 49 years of age. Demographic and health information and blood samples for RBC folate analyses were collected from 1473 women. Prevalence rate ratios of FI and predicted NTD prevalence were estimated based on RBC folate concentrations comparing subpopulations of interest.\u0000\u0000\u0000RESULTS\u0000National FI prevalence was 47.2% [95% confidence interval, 43.3-51.1] and showed wide variation by region (18-81%). In all regions, FI prevalence was higher among indigenous (27-89%) than among nonindigenous populations (16-44%). National NTD risk based on RBC folate concentrations was estimated to be 14 per 10,000 live births (95% uncertainty interval, 11.1-18.6) and showed wide regional variation (from 11 NTDS in the Metropolitan region to 26 NTDs per 10,000 live births in the Norte region).\u0000\u0000\u0000CONCLUSION\u0000FI remains a common problem in populations with limited access to fortified products, specifically rural, low income, and indigenous populations. However, among subpopulations that are most likely to have fortified food, the prevalence of FI is similar to countries with well-established fortification programs. Birth Defects Research (Part A) 106:587-595, 2016. © 2016 Wiley Periodicals, Inc.","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"3 1","pages":"587-95"},"PeriodicalIF":0.0,"publicationDate":"2016-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91234578","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation","authors":"Carole Goumy,&nbsp;Mathilde Gay-Bellile,&nbsp;Gaelle Salaun,&nbsp;Stephan Kemeny,&nbsp;Eleonore Eymard-Pierre,&nbsp;Marie Biard,&nbsp;Celine Pebrel-Richard,&nbsp;Philippe Vanlieferinghen,&nbsp;Christine Francannet,&nbsp;Andrei Tchirkov,&nbsp;Helene Laurichesse,&nbsp;Charles Rouzade,&nbsp;Laetitia Gouas,&nbsp;Philippe Vago","doi":"10.1002/bdra.23535","DOIUrl":"10.1002/bdra.23535","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Microdeletions encompassing chromosome bands 2q14.1q14.3 are rare. To date, eight reports of relatively large deletions of this region (∼20 Mb) but only two small deletions (&lt;6 Mb) have been reported. These deletions can cause a variable phenotype depending on the size and location of the deletion. Cognitive disability, facial dysmorphism, and postnatal growth retardation are the most common phenotypic features.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case</h3>\u0000 \u0000 <p>We report on a novel 5.8 Mb deletion of 2q14.1q14.3 identified by array comparative genomic hybridization in a fetus with severe intrauterine growth retardation and partial agenesis of the corpus callosum. The deletion contained 24 coding genes including <i>STEAP3</i>, <i>GLI2</i>, and <i>RNU4ATAC</i> and was inherited from the mild affected mother. A sibling developmental delay and similar dysmorphic facial features was found to have inherited the same deletion.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This case emphasizes the variable expressivity of the 2q14 microdeletion and reinforces the hypothesis that agenesis of corpus callosum, microcephaly, developmental delay, and distinctive craniofacial features may be part of the phenotypic spectrum characterizing the affected patients. We suggest that <i>GLI2</i> is a dosage-sensitive gene that may be responsible for the agenesis of corpus callosum observed in the proband. Birth Defects Research (Part A) 106:793–797, 2016. © 2016 Wiley Periodicals, Inc.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"106 9","pages":"793-797"},"PeriodicalIF":0.0,"publicationDate":"2016-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23535","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34612866","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Age range for inclusion affects ascertainment by birth defects registers","authors":"Catherine S. Gibson,&nbsp;Heather Scott,&nbsp;Eric Haan,&nbsp;Wendy Scheil","doi":"10.1002/bdra.23534","DOIUrl":"10.1002/bdra.23534","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The South Australian Birth Defects Register (SABDR) has collected the date of diagnosis of notified birth defects since the 2005 birth year cohort. This study aims to document the age at diagnosis for each of the main diagnostic categories of birth defects, to produce a profile of when defects are diagnosed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Deidentified data were extracted from the SABDR for birth years 2005 to 2007. Each birth defect was assigned to a mutually exclusive date of diagnosis category (termination/stillbirth; neonatal [birth–28 days]; 1 month–1 year; 1–2 years; 2–3 years; 3–4 years; 4–5 years; unspecified). Each defect was also grouped according to the International Classification of Diseases Ninth edition–British Paediatric Association major diagnostic categories (nervous, cardiovascular, respiratory, gastrointestinal, urogenital, musculoskeletal, chromosomal, metabolic, hematological/immune, other).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>There were 6419 defects identified in 3676 individuals, and 98.6% of defects had a diagnosis date recorded. Terminations of pregnancy/stillbirths accounted for 20.3% of defects notified, and a further 46.7% of defects were diagnosed within the neonatal period. A total of 81.5% of defects were diagnosed by 1 year of age. An additional 17.2% of defects were diagnosed between the ages of 1 and 5 years. There were wide differences in age at diagnosis between the major diagnostic categories.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This study highlights the value of birth defect registers collecting information about birth defects from terminations of pregnancy, stillbirths, and live births up to a child's fifth birthday. Reviewing diagnosis date provides insight into the pattern of diagnosis of different birth defects. This provides valuable information to medical specialists and researchers regarding the interpretation of information from birth defect data collections. Birth Defects Research (Part A) 106:761–766, 2016. © 2016 Wiley Periodicals, Inc.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"106 9","pages":"761-766"},"PeriodicalIF":0.0,"publicationDate":"2016-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23534","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34596689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Use of hierarchical models to analyze European trends in congenital anomaly prevalence","authors":"Alana Cavadino,&nbsp;David Prieto-Merino,&nbsp;Marie-Claude Addor,&nbsp;Larraitz Arriola,&nbsp;Fabrizio Bianchi,&nbsp;Elizabeth Draper,&nbsp;Ester Garne,&nbsp;Ruth Greenlees,&nbsp;Martin Haeusler,&nbsp;Babak Khoshnood,&nbsp;Jenny Kurinczuk,&nbsp;Bob McDonnell,&nbsp;Vera Nelen,&nbsp;Mary O'Mahony,&nbsp;Hanitra Randrianaivo,&nbsp;Judith Rankin,&nbsp;Anke Rissmann,&nbsp;David Tucker,&nbsp;Christine Verellen-Dumoulin,&nbsp;Hermien de Walle,&nbsp;Diana Wellesley,&nbsp;Joan K. Morris","doi":"10.1002/bdra.23515","DOIUrl":"10.1002/bdra.23515","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Surveillance of congenital anomalies is important to identify potential teratogens. Despite known associations between different anomalies, current surveillance methods examine trends within each subgroup separately. We aimed to evaluate whether hierarchical statistical methods that combine information from several subgroups simultaneously would enhance current surveillance methods using data collected by EUROCAT, a European network of population-based congenital anomaly registries.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Ten-year trends (2003 to 2012) in 18 EUROCAT registries over 11 countries were analyzed for the following groups of anomalies: neural tube defects, congenital heart defects, digestive system, and chromosomal anomalies. Hierarchical Poisson regression models that combined related subgroups together according to EUROCAT's hierarchy of subgroup coding were applied. Results from hierarchical models were compared with those from Poisson models that consider each congenital anomaly separately.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Hierarchical models gave similar results as those obtained when considering each anomaly subgroup in a separate analysis. Hierarchical models that included only around three subgroups showed poor convergence and were generally found to be over-parameterized. Larger sets of anomaly subgroups were found to be too heterogeneous to group together in this way.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>There were no substantial differences between independent analyses of each subgroup and hierarchical models when using the EUROCAT anomaly subgroups. Considering each anomaly separately, therefore, remains an appropriate method for the detection of potential changes in prevalence by surveillance systems. Hierarchical models do, however, remain an interesting alternative method of analysis when considering the risks of specific exposures in relation to the prevalence of congenital anomalies, which could be investigated in other studies. Birth Defects Research (Part A) 106:480–10, 2016. © 2016 Wiley Periodicals, Inc.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"106 6","pages":"480-488"},"PeriodicalIF":0.0,"publicationDate":"2016-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23515","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34479856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Absence of prenatal ultrasound surveillance: Data from the Portuguese congenital anomalies registry","authors":"Sandrina Correia,&nbsp;Ausenda Machado,&nbsp;Paula Braz,&nbsp;Ana Paula Rodrigues,&nbsp;Carlos Matias-Dias","doi":"10.1002/bdra.23530","DOIUrl":"10.1002/bdra.23530","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>In Portugal, prenatal care guidelines advocate two prenatal ultrasound scans for all pregnant women. Not following this recommendation is considered inadequate prenatal surveillance. The National Registry of Congenital Anomalies (RENAC in Portuguese) is an active population-based registry and an important instrument for the epidemiological surveillance of congenital anomalies (CA) in Portugal. Regarding pregnancies with CA, this study aims to describe the epidemiology of absent prenatal ultrasound scans and factors associated with this inadequate surveillance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A cross-sectional comparative study from 2008 to 2013 was carried out using data from RENAC. Associations of nonuptake of prenatal ultrasound screening with socio-demographic health behaviors and obstetric history data were evaluated using multiple logistic regression. Potential confounders were investigated and included if they changed the crude odds ratio estimate by at least 10% after adjustment by the Mantel-Haenszel method. The statistical significance level was set at 5%.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Overall, 6090 notifications of congenital anomalies were reported to RENAC, and 2% of the pregnant women reported no prenatal ultrasound screening surveillance. These women were on average aged 30.0 years, and 52.8% had no professional occupation. The odds of not performing an ultrasound scan during their pregnancy increased 2.47 times with lack of professional activity, 4.67 times in non-Caucasian women, and decreased 46% for any previous miscarriage.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>For pregnant women who did not receive an ultrasound screening examination during pregnancy, the strongest statistically associated factors were professional occupation, ethnicity, and number of miscarriages in previous gestations. Birth Defects Research (Part A) 106:489–493, 2016. © 2016 Wiley Periodicals, Inc.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"106 6","pages":"489-493"},"PeriodicalIF":0.0,"publicationDate":"2016-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23530","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34479857","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Abstracts from the 13th EUROCAT SCIENTIFIC SYMPOSIUM: Advancing congenital anomaly research through collaboration, 16–17 June 2016, Milan, Italy","authors":"","doi":"10.1002/bdra.23536","DOIUrl":"10.1002/bdra.23536","url":null,"abstract":"<p>Guest Editor: Judith Rankin</p><p>A special thank you to the EUROCAT Management Committee: Ingeborg BarišićFabrizio BianchiEster GarneMaria LoaneJoan MorrisVera NelenAmanda NevilleJudith Rankin</p><p>A special thank you to the JRC/Public Health Policy Support Unit/Rare Diseases group:Simona MartinMonica LanzoniSusanne SafkanAgnieszka Kinsner-Ovaskainen</p><p>\u0000 \u0000 </p>","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"106 6","pages":"501-510"},"PeriodicalIF":0.0,"publicationDate":"2016-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23536","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34642368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is advanced maternal age a risk factor for congenital heart disease?","authors":"Kate E. Best,&nbsp;Judith Rankin","doi":"10.1002/bdra.23507","DOIUrl":"10.1002/bdra.23507","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Studies have reported that advanced maternal age is a risk factor for congenital heart disease (CHD), but none of these have been performed in the United Kingdom. Currently, women in the United Kingdom are not referred for specialist fetal echocardiography based on maternal age alone. The aim of this study is to examine the association between maternal age at delivery and CHD prevalence in the North of England.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Singleton cases of CHD notified to the Northern Congenital Abnormality Survey and born between January 1, 1998, to December 31, 2013, were included. Cases with chromosomal anomalies were excluded. The relative risk (RR) of CHD according to maternal age at delivery was estimated using Poisson regression.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>There were 4024 singleton cases of nonchromosomal CHD, giving a prevalence of 8.1 (95% confidence interval [CI], 7.8–8.3) per 1000 live and stillbirths. There was no association between maternal age at delivery and CHD prevalence (<i>p</i> = 0.97), with no evidence of an increased risk of CHD in mothers aged ≥35 compared to aged 25 to 29 (RR = 0.99; 95% CI, 0.89–1.09). There were no significant associations between maternal age at delivery and severity III CHD (<i>p</i> = 0.84), severity II CHD (<i>p</i> = 0.74), or severity I CHD (<i>p</i> = 0.66), although there was a slight increased risk of severity I CHD in mothers aged ≥35 (RR = 1.27; 95% CI, 0.83–1.95).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>We found little evidence that advanced maternal age is a risk factor for CHD. There is no evidence that women in the United Kingdom should be referred for specialist prenatal cardiac screening based on their age. Birth Defects Research (Part A) 106:461–467, 2016. © 2016 Wiley Periodicals, Inc.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"106 6","pages":"461-467"},"PeriodicalIF":0.0,"publicationDate":"2016-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23507","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34479853","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal diagnosis, hospital characteristics, and mortality in transposition of the great arteries","authors":"Diego A. Lara,&nbsp;David E. Fixler,&nbsp;Mary K. Ethen,&nbsp;Mark A. Canfield,&nbsp;Wendy N. Nembhard,&nbsp;Shaine A. Morris","doi":"10.1002/bdra.23525","DOIUrl":"10.1002/bdra.23525","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The role of prenatal diagnosis in reducing neonatal mortality from transposition of the great arteries (TGA) is controversial. Factors affected by prenatal diagnosis such as proximity at birth to a cardiac surgical center (CSC) and CSC volume are associated with mortality in congenital heart disease. The purpose of the study was to determine the associations between prenatal diagnosis, distance from birthplace to a CSC, CSC TGA volume, and neonatal mortality in patients with TGA.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The Texas Birth Defects Registry was queried for all live born infants with TGA from 1999 to 2007. Four hundred sixty-eight cases of TGA were included.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Forty-eight patients (10.3%) were prenatally diagnosed, and 20 patients died before age 28 days (4.3%). Neither prenatal diagnosis nor close proximity to a CSC at birth (<i>p</i> &gt; 0.05) were associated with decreased mortality. Low CSC TGA volume was associated with increased mortality (<i>p</i> &lt; 0.0002). Mortality at the CSCs with &lt;5 patients per year was 9.6%; CSCs with 5 to 10 patients per year had 0% mortality, and those with &gt;10 patients per year had 2.3% mortality. In multivariable logistic regression, only preterm birth (odds ratio, 7.05; 95% confidence interval, 4.13–12.05) and lower CSC volume (<i>p</i> &lt; 0.001) were associated with neonatal mortality, although prenatal diagnosis attenuated the detrimental association of lower volume CSCs with higher mortality (<i>p</i> for interaction = 0.047).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Lower CSC TGA patient volume was associated with higher neonatal mortality. Prenatal diagnosis may improve survival in lower volume CSCs. Birth Defects Research (Part A) 106:739–748, 2016. © 2016 Wiley Periodicals, Inc.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"106 9","pages":"739-748"},"PeriodicalIF":0.0,"publicationDate":"2016-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23525","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34638628","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute alcohol exposure during mouse gastrulation alters lipid metabolism in placental and heart development: Folate prevention","authors":"Kersti K. Linask,&nbsp;Mingda Han","doi":"10.1002/bdra.23526","DOIUrl":"10.1002/bdra.23526","url":null,"abstract":"Background Embryonic acute exposure to ethanol (EtOH), lithium, and homocysteine (HCy) induces cardiac defects at the time of exposure; folic acid (FA) supplementation protects normal cardiogenesis (Han et al., 2009, 2012; Serrano et al., 2010). Our hypothesis is that EtOH exposure and FA protection relate to lipid and FA metabolism during mouse cardiogenesis and placentation. Methods On the morning of conception, pregnant C57BL/6J mice were placed on either of two FA‐containing diets: a 3.3 mg health maintenance diet or a high FA diet of 10.5 mg/kg. Mice were injected a binge level of EtOH, HCy, or saline on embryonic day (E) 6.75, targeting gastrulation. On E15.5, cardiac and umbilical blood flow were examined by ultrasound. Embryonic cardiac tissues were processed for gene expression of lipid and FA metabolism; the placenta and heart tissues for neutral lipid droplets, or for medium chain acyl‐dehydrogenase (MCAD) protein. Results EtOH exposure altered lipid‐related gene expression on E7.5 in comparison to control or FA‐supplemented groups and remained altered on E15.5 similarly to changes with HCy, signifying FA deficiency. In comparison to control tissues, the lipid‐related acyl CoA dehydrogenase medium length chain gene and its protein MCAD were altered with EtOH exposure, as were neutral lipid droplet localization in the heart and placenta. Conclusion EtOH altered gene expression associated with lipid and folate metabolism, as well as neutral lipids, in the E15.5 abnormally functioning heart and placenta. In comparison to controls, the high FA diet protected the embryo and placenta from these effects allowing normal development. Birth Defects Research (Part A) 106:749–760, 2016. © 2016 The Authors Birth Defects Research Part A: Clinical and Molecular Teratology Published by Wiley Periodicals, Inc.","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"106 9","pages":"749-760"},"PeriodicalIF":0.0,"publicationDate":"2016-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23526","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34574766","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Management and outcomes of neonates with down syndrome admitted to neonatal units","authors":"Jake P. Mann,&nbsp;Eugene Statnikov,&nbsp;Neena Modi,&nbsp;Nik Johnson,&nbsp;Anna Springett,&nbsp;Joan K. Morris","doi":"10.1002/bdra.23513","DOIUrl":"10.1002/bdra.23513","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Neonates with Down syndrome have an increased risk of being admitted to a neonatal unit compared with unaffected neonates. We aimed to estimate the proportion of neonates with Down syndrome admitted to a neonatal unit and compare their management and outcomes with other neonatal admissions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Case–control study of neonates born from 2009 to 2011 admitted to 122 NHS Neonatal Units in England using data from the National Down Syndrome Cytogenetic Register and the National Neonatal Research Database. For each neonate with Down syndrome, three neonates admitted to the same unit in the same month and born at the same gestation were identified.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Forty-six percent of neonates with Down syndrome were admitted to a neonatal unit. Boys were more likely to be admitted than girls (odds ratio = 1.7; 95% confidence interval, 1.4–2.0). Neonates with Down syndrome required more intensive or high dependency care compared with unaffected neonates (37% vs. 27%. <i>p</i> &lt; 0.01) and stayed in neonatal units for longer (11 days vs. 5 days, <i>p</i> &lt; 0.01). A total of 31% of neonates with Down syndrome required respiratory support compared with 22% (<i>p</i> &lt; 0.001) of unaffected neonates, and 11% were discharged requiring oxygen supplementation compared with 3% (<i>p</i> &lt; 0.001) of unaffected neonates. A total of 3% of neonates with Down syndrome died in a neonatal unit compared with 1% (<i>p</i> = 0.01) of unaffected neonates.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Neonates with Down syndrome are more likely than unaffected neonates to be admitted to a neonatal unit, have a prolonged stay, and be discharged home on supplemental oxygen. Birth Defects Research (Part A) 106:468–474, 2016. © 2016 Wiley Periodicals, Inc.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"106 6","pages":"468-474"},"PeriodicalIF":0.0,"publicationDate":"2016-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23513","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34479854","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}