3,897 results match your criteria Anencephaly


[Pulmonary glial heterotopia: Unique lesion in an infant with anencephalic twin].

Ann Pathol 2018 Dec 12. Epub 2018 Dec 12.

Service de pathologie, hôpital universitaire Robert-Debré, AP-HP, 48, boulevard Sérurier, 75019 Paris, France; Université Diderot Paris 7 - SPC, 16, rue Huchard, 75018 Paris, France.

Pulmonary glial heterotopia is an extremely rare entity whose pathophysiology remains unclear. We report for the first time one case of pulmonary glial heterotopia occured in a one-month baby free from any malformation. She has the particularity of being born from monozygotic monochorionic twin pregnancy where her anencephalic exencephalic sister suffered a medical termination of pregnancy. Read More

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http://dx.doi.org/10.1016/j.annpat.2018.08.006DOI Listing
December 2018

Periconceptional folic acid supplementation and sex difference in prevention of neural tube defects and their subtypes in China: results from a large prospective cohort study.

Nutr J 2018 Dec 12;17(1):115. Epub 2018 Dec 12.

Institute of Reproductive and Child Health / Key Laboratory of Reproductive Health, National Health Commission of the People's Republic of China, Peking University, Beijing, 100191, People's Republic of China.

Background: Folic acid (FA) supplementation is known to prevent neural tube defects (NTDs). We examined whether this preventive effect differs by the sex of the infant.

Methods: Data were gathered from a large population-based cohort study in China that evaluated the effects of FA supplementation on NTDs. Read More

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http://dx.doi.org/10.1186/s12937-018-0421-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6291989PMC
December 2018

Aerodigestive and communicative behaviors in anencephalic and hydranencephalic infants.

Birth Defects Res 2018 Dec 10. Epub 2018 Dec 10.

Department of Linguistics, University of British Columbia, Vancouver, Canada.

The aerodigestive and communicative behaviors of anencephalic and hydranencephalic patients are assessed from literature sources and are compared with documented neural structures present in the brainstem, subcortical, and cortical regions of the brain. Much of the data analyzed corroborate previous neurological studies, which focus on central pattern generators and development in model organisms. However, findings suggest that further research is necessary to determine which components of these systems support these behaviors. Read More

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http://dx.doi.org/10.1002/bdr2.1424DOI Listing
December 2018

Maternal periconceptional consumption of sprouted potato and risks of neural tube defects and orofacial clefts.

Nutr J 2018 Nov 28;17(1):112. Epub 2018 Nov 28.

Peking University Institute of Reproductive and Child Health, National Health Commission Key Laboratory of Reproductive Health, Beijing, 100191, China.

Background: The association between maternal consumption of sprouted potato during periconceptional period on the development of neural tube defects (NTDs) or orofacial clefts (OFCs) remains unclear. We aimed to examine the association between maternal consumption of sprouted potatoes during periconceptional period and risks of NTDs or OFCs.

Methods: Subjects included 622 NTD cases, 135 OFC cases and 858 nonmalformed controls, were recruited from a case-control study in Shanxi Province of northern China between 2002 and 2007. Read More

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http://dx.doi.org/10.1186/s12937-018-0420-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262956PMC
November 2018
1 Read

Acrania-exencephaly-anencephaly sequence phenotypic characterization using two- and three-dimensional ultrasound between 11 and 13 weeks and 6 days of gestation.

J Ultrason 2018 ;18(74):240-246

Monash Ultrasound for Women, Melbourne, Victoria, Australia.

The study presents a pictorial essay of acrania-exencephaly-anencephaly sequence using two-(2D) and three-dimensional (3D) ultrasonography, documenting the different phenotypic characterization of this rare disease. Normal and abnormal fetuses were evaluated during the first trimester scan. The International Society of Ultrasound in Obstetrics and Gynecology practice guidelines were adopted to standardize first trimester anatomical ultrasound screening. Read More

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http://dx.doi.org/10.15557/JoU.2018.0035DOI Listing
January 2018
5 Reads

High burden of neural tube defects in Tigray, Northern Ethiopia: Hospital-based study.

PLoS One 2018 14;13(11):e0206212. Epub 2018 Nov 14.

Department of Surgery, School of medicine, College of Health Sciences, Mekelle University, Mekelle, Ethiopia.

Introduction: Neural tube defects are the major causes of fetal loss and considerable disabilities in infants. Currently, there is no significant research on the incidence of Neural tube defects in the Tigray region of Ethiopia.

Objective: To determine the incidence and clinical pattern of the Neural Tube Defects. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0206212PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235279PMC
November 2018
8 Reads

Overview on neural tube defects: From development to physical characteristics.

Birth Defects Res 2018 Nov 12. Epub 2018 Nov 12.

Department of Pediatrics, The University of Texas at Austin Dell Medical School, Austin, Texas.

Neural tube defects (NTDs) are the second most common congenital malformations in humans affecting the development of the central nervous system. Although NTD pathogenesis has not yet been fully elucidated, many risk factors, both genetic and environmental, have been extensively reported. Classically divided in two main sub-groups (open and closed defects) NTDs present extremely variable prognosis mainly depending on the site of the lesion. Read More

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http://doi.wiley.com/10.1002/bdr2.1380
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http://dx.doi.org/10.1002/bdr2.1380DOI Listing
November 2018
12 Reads

Sex differences in the prevalence of neural tube defects and preventive effects of folic acid (FA) supplementation among five counties in northern China: results from a population-based birth defect surveillance programme.

BMJ Open 2018 Nov 8;8(11):e022565. Epub 2018 Nov 8.

Institute of Reproductive and Child Health, Key Laboratory of Reproductive Health, National Health Commission of the People's Republic of China, Peking University, Beijing, China.

Objectives: Sex differences in prevalence of neural tube defects (NTDs) have previously been recognised; however, the different susceptibility of men and women have not been examined in relation to the effects of folic acid (FA) supplementation. We hypothesised that FA may have a disproportionate effect that alters the sex-specific prevalence of NTDs.

Setting: Data from two time points, before (2003-2004) and after (2011-2016) the start of the supplementation programme, were obtained from a population-based birth defect surveillance programme among five counties in northern China. Read More

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http://dx.doi.org/10.1136/bmjopen-2018-022565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231556PMC
November 2018
7 Reads
2.063 Impact Factor

An Audit of Neural Tube Defects in the Republic Of Ireland for 2012-2015.

Ir Med J 2018 03 14;111(3):712. Epub 2018 Mar 14.

UCD Centre for Human Reproduction, Coombe Women and Infants University Hospital, Cork Street, Dublin 8.

Neural tube defects (NTD) are potentially preventable in two-thirds of cases by periconceptional maternal Folic Acid (FA) supplementation. A national audit for the years 2009-11 showed no decline in NTD rates over twenty years. The aim of this national audit was to determine trends/rates and inform revision of national FA supplementation and food fortification strategies. Read More

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March 2018
1 Read

Mickey mouse signs.

J Med Imaging Radiat Oncol 2018 Oct;62 Suppl 1:92

Department of Radiology, Concord Repatriation General Hospital, Concord, New South Wales, Australia.

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http://doi.wiley.com/10.1111/1754-9485.39_12784
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http://dx.doi.org/10.1111/1754-9485.39_12784DOI Listing
October 2018
2 Reads

Reducing inequities in preventable neural tube defects: the critical and underutilized role of neurosurgical advocacy for folate fortification.

Neurosurg Focus 2018 Oct;45(4):E20

Department of Neurosurgery, University of Alabama at Birmingham, Alabama.

Neural tube defects (NTDs) are one of the greatest causes of childhood mortality and disability-adjusted life years worldwide. Global prevalence at birth is approximately 18.6 per 10,000 live births, with more than 300,000 infants with NTDs born every year. Read More

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http://dx.doi.org/10.3171/2018.7.FOCUS18231DOI Listing
October 2018
2 Reads

Maternal antihypertensive medication use and selected birth defects in the National Birth Defects Prevention Study.

Birth Defects Res 2018 Nov 10;110(19):1433-1442. Epub 2018 Sep 10.

New York State Department of Health, Congenital Malformations Registry, Albany, New York.

Background: There are limited data on the relationship between antihypertensive medication use in early pregnancy and risk of birth defects.

Methods: Using data from the National Birth Defects Prevention Study, we examined associations between specific antihypertensive medication classes and 28 noncardiac birth defects. We analyzed self-reported data on 17,038 case and 11,477 control pregnancies with estimated delivery dates during 1997-2011. Read More

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http://dx.doi.org/10.1002/bdr2.1372DOI Listing
November 2018
1 Read

Survival and healthcare utilization of infants diagnosed with lethal congenital malformations.

J Perinatol 2018 Dec 20;38(12):1674-1684. Epub 2018 Sep 20.

Division of Hospice and Palliative Care, Johns Hopkins All Children's Hospital, St. Petersburg, FL, USA.

Objective: We assessed survival, hospital length of stay (LOS), and costs of medical care for infants with lethal congenital malformations, and also examined the relationship between medical and surgical therapies and survival.

Study Design: Retrospective cohort study including infants born 1998-2009 with lethal congenital malformations, identified using a longitudinally linked maternal/infant database.

Results: The cohort included 786 infants: trisomy 18 (T18, n = 350), trisomy 13 (T13, n = 206), anencephaly (n = 125), bilateral renal agenesis (n = 53), thanatophoric dysplasia/achondrogenesis/lethal osteogenesis imperfecta (n = 38), and infants > 1 of the birth defects (n = 14). Read More

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http://www.nature.com/articles/s41372-018-0227-3
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http://dx.doi.org/10.1038/s41372-018-0227-3DOI Listing
December 2018
4 Reads
2.350 Impact Factor

Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice.

Hum Mol Genet 2018 Dec;27(24):4218-4230

Developmental Biology & Cancer Programme, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.

The genetic basis of human neural tube defects (NTDs), such as anencephaly and spina bifida (SB), is complex and heterogeneous. Grainyhead-like genes represent candidates for involvement in NTDs based on the presence of SB and exencephaly in mice carrying loss-of-function alleles of Grhl2 or Grhl3. We found that reinstatement of Grhl3 expression, by bacterial artificial chromosome (BAC)-mediated transgenesis, prevents SB in Grhl3-null embryos, as in the Grhl3 hypomorphic curly tail strain. Read More

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http://dx.doi.org/10.1093/hmg/ddy313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276835PMC
December 2018
2 Reads

Insights into the Etiology of Mammalian Neural Tube Closure Defects from Developmental, Genetic and Evolutionary Studies.

J Dev Biol 2018 Aug 21;6(3). Epub 2018 Aug 21.

Department of Medical Genetics, University of British Columbia, 2350 Health Sciences Mall, Vancouver, BC V6T 1Z3, Canada.

The human neural tube defects (NTD), anencephaly, spina bifida and craniorachischisis, originate from a failure of the embryonic neural tube to close. Human NTD are relatively common and both complex and heterogeneous in genetic origin, but the genetic variants and developmental mechanisms are largely unknown. Here we review the numerous studies, mainly in mice, of normal neural tube closure, the mechanisms of failure caused by specific gene mutations, and the evolution of the vertebrate cranial neural tube and its genetic processes, seeking insights into the etiology of human NTD. Read More

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http://dx.doi.org/10.3390/jdb6030022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6162505PMC
August 2018
2 Reads

Reductions in child mortality by preventing spina bifida and anencephaly: Implications in achieving Target 3.2 of the Sustainable Development Goals in developing countries.

Birth Defects Res 2018 Aug 2. Epub 2018 Aug 2.

Center for Spina Bifida Prevention, Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, Georgia.

Background: There is an opportunity to reduce child mortality by preventing folic acid-preventable spina bifida and anencephaly (FAP SBA) in developing countries. We estimated reductions in FAP SBA-associated child mortality in 69 countries with an immediate potential for mandatory fortification of wheat flour.

Methods: Using data from multiple sources, we estimated the percent reductions in neonatal, infant, and under-five mortality that would have occurred by preventing FAP SBA; and the contributions of these reductions toward each country's Sustainable Development Goals (SDG) for child mortality reduction. Read More

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http://doi.wiley.com/10.1002/bdr2.1362
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http://dx.doi.org/10.1002/bdr2.1362DOI Listing
August 2018
14 Reads

A 2017 global update on folic acid-preventable spina bifida and anencephaly.

Birth Defects Res 2018 Aug 2;110(14):1139-1147. Epub 2018 Aug 2.

Center for Spina Bifida Prevention, Department of Epidemiology, Rollins School of Public Health of Emory University, Atlanta, Georgia.

Background: Spina bifida and anencephaly are largely preventable birth defects through mandatory folic acid fortification. Our objective was to estimate the proportion of folic acid-preventable spina bifida and anencephaly (FAP SBA) prevented worldwide through mandatory fortification of wheat and/or maize flour with folic acid during the year 2017.

Methods: Using existing data, we identified countries with mandatory fortification policies that added at least 1. Read More

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http://dx.doi.org/10.1002/bdr2.1366DOI Listing
August 2018
8 Reads

Environmental and individual exposure and the risk of congenital anomalies: a review of recent epidemiological evidence.

Epidemiol Prev 2018 May-Aug;42(3-4 Suppl 1):1-34

Unit of Environmental Epidemiology and Disease Registries, Institute of Clinical Physiology, National Research Council, Pisa (Italy).

Introduction: Congenital anomalies (CAs) represent one of the main cause of foetal death, infant mortality and morbidity, and long-term disability. CAs have been object of systematic registration activity for a long-time in many geographical areas in Europe and worldwide. CAs are often associated with disabilities of different types and severity, including the developed Countries worldwide. Read More

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http://dx.doi.org/10.19191/EP18.3-4.S1.P001.057DOI Listing
August 2018
2 Reads

Early Detection of Structural Anomalies in a Primary Care Setting in the Netherlands.

Fetal Diagn Ther 2018 Jul 25:1-8. Epub 2018 Jul 25.

Fetal Medicine Unit, Department of Obstetrics and Gynecology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

Objective: This study assessed the percentage and type of congenital anomalies diagnosed at first-trimester ultrasound (US) scan in a primary care setting without following a standardized protocol for fetal anatomical assessment.

Materials And Methods: US scans performed between 11+0 and 13+6 weeks of gestation in pregnancies with estimated date of delivery between January 1, 2012 and January 1, 2016 were searched. Data were supplemented with results of 20-week scans and pregnancy outcome. Read More

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http://dx.doi.org/10.1159/000490723DOI Listing
July 2018
4 Reads

Polymorphism rs1052536 in Base Excision Repair Gene Is a Risk Factor in a High-Risk Area of Neural Tube Defects in China.

Med Sci Monit 2018 Jul 19;24:5015-5026. Epub 2018 Jul 19.

Department of Neurology, Affiliated Children's Hospital of Capital Institute of Pediatrics, Beijing, China (mainland).

BACKGROUND DNA Base Excision Repair Gene-DNA LigaseIII (LIG3) is an important repair gene in the repair pathway and plays an important role in maintaining the integrity of mitochondria. Rs1052536 and rs3135967 polymorphisms of the gene are associated with lung cancer, keratoconus, and Fuchs endothelial corneal dystrophy. There is no previously published report on the relationship between the polymorphisms and neural tube defects (NTDs). Read More

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https://www.medscimonit.com/abstract/index/idArt/907492
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http://dx.doi.org/10.12659/MSM.907492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6067017PMC
July 2018
7 Reads

Preconception folic acid supplementation use and the occurrence of neural tube defects in Japan: A nationwide birth cohort study of the Japan Environment and Children's Study.

Congenit Anom (Kyoto) 2018 Jun 13. Epub 2018 Jun 13.

Department of Obstetrics and Gynecology, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.

We evaluated the relationship between preconception folic acid supplementation and the occurrence of neural tube defects (NTDs) in offspring, using data from the Japan Environment and Children's Study (a nationwide prospective birth cohort study) database. Of 92 269 participants with single pregnancies, 74 cases (offspring or fetuses) had NTDs, including 32 cases of spina bifida, 24 cases of anencephaly, and 19 cases of encephalocele. A total of 7634 participants (8. Read More

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http://dx.doi.org/10.1111/cga.12293DOI Listing
June 2018
8 Reads

A national estimate of the birth prevalence of congenital anomalies in India: systematic review and meta-analysis.

BMC Pediatr 2018 May 25;18(1):175. Epub 2018 May 25.

Interdisciplinary School of Health Sciences, Savitribai Phule Pune University, Pune, 411007, India.

Background: A quarter of all global neonatal deaths occur in India. Congenital anomalies constitute the fifth largest cause of neonatal mortality in the country, but national estimates of the prevalence of these conditions are lacking. The objective of the study was to derive an estimate of the birth prevalence of congenital anomalies in India. Read More

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https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887
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http://dx.doi.org/10.1186/s12887-018-1149-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5970488PMC
May 2018
3 Reads

Magnitude of Neural Tube Defects and Associated Risk Factors at Three Teaching Hospitals in Addis Ababa, Ethiopia.

Biomed Res Int 2018 11;2018:4829023. Epub 2018 Mar 11.

Department of Pediatrics and Child Health, College of Medicine and Health Sciences, Hawassa University, Hawassa, Ethiopia.

There is scarcity of data on prevalence of neural tube defects (NTDs) in lower-income countries. Local data are important to understand the real burden of the problem and explore risk factors to design and implement preventive approaches. This study aimed to determine prevalence and risk factors of NTDs. Read More

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http://dx.doi.org/10.1155/2018/4829023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5866884PMC
September 2018
13 Reads

Maternal association and influence of DHFR 19 bp deletion variant predisposes foetus to anencephaly susceptibility: a family-based triad study.

Biomarkers 2018 Nov 15;23(7):640-646. Epub 2018 May 15.

a Institute of Genetics and Hospital for Genetic Diseases, Osmania University , Hyderabad , India.

Objective: Previous studies have not used family-based methods to evaluate maternal-paternal genetic effects of the folate metabolizing enzyme, dihydro folate reductase (DHFR) essential during embryogenesis. Present study focuses on evaluating the association and influence of parental genetic effects of DHFR 19 bp deletion in the development of foetal neural tube defects (NTDs) using family-based triad approach.

Materials And Methods: The study population (n = 924) including 124 NTD case-parent trios (n = 124 × 3 = 372) and 184 healthy control-parent trios (n = 184 × 3 = 552) from Telangana, India, was genotyped for DHFR 19 bp deletion. Read More

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http://dx.doi.org/10.1080/1354750X.2018.1471619DOI Listing
November 2018
3 Reads

Digenic variants of planar cell polarity genes in human neural tube defect patients.

Mol Genet Metab 2018 May 18;124(1):94-100. Epub 2018 Mar 18.

Institute of Reproductive and Child Health, Ministry of Health Key Laboratory of Reproductive Health, Department of Epidemiology and Biostatistics, School of Public Health, Peking University Health Science Center, Beijing, China. Electronic address:

Neural tube defects (NTDs) are considered to be a complex genetic disorder, although the identity of the genetic factors remains largely unknown. Mouse model studies suggest a multifactorial oligogenic pattern of inheritance for NTDs, yet evidence from published human studies is surprisingly absent. In the present study, targeted next-generation sequencing was performed to screen for DNA variants in the entire coding regions and intron-exon boundaries of targeted genes using DNA samples from 510 NTD cases. Read More

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http://dx.doi.org/10.1016/j.ymgme.2018.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5966321PMC
May 2018
5 Reads

Anencephaly and obstetric outcome beyond the age of viability.

J Perinat Med 2018 Oct;46(8):885-888

Feto-Maternal Medicine Unit, Obstetrics and Gynecology Department, Women's Hospital, Hamad Medical Corporation, Doha, Qatar.

Objective To review the obstetric impact and natural history of anencephalic pregnancies beyond the age of viability. Study design A retrospective chart review of all cases with a prenatal diagnosis of anencephaly who delivered after 24 weeks' gestation during the period 1990 until 2016. Obstetric outcomes including mode of delivery, live births, shoulder dystocia, antepartum haemorrhage (APH), postpartum haemorrhage (PPH) and uterine rupture were studied. Read More

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http://dx.doi.org/10.1515/jpm-2017-0363DOI Listing
October 2018
7 Reads

Neural tube defects: Sex ratio changes after fortification with folic acid.

PLoS One 2018 14;13(3):e0193127. Epub 2018 Mar 14.

Latin American Collaborative Study of Congenital Malformations (ECLAMC) at Center for Medical Education and Clinical Research (CEMIC-CONICET), Buenos Aires, Argentina.

Background: Historically, neural tube defects (NTDs) have predominated in female infants but the reasons remain unclear. In South America, the pre- folic acid fortification (FAF) rates of NTDs were around 18/10,000 births for females and 12/10,000 births for males, with an estimated sex ratio (male/female) of 0.67. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0193127PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5851584PMC
June 2018
5 Reads

Countries with an immediate potential for primary prevention of spina bifida and anencephaly: Mandatory fortification of wheat flour with folic acid.

Authors:
Vijaya Kancherla

Birth Defects Res 2018 Jul 13;110(11):956-965. Epub 2018 Mar 13.

Center for Spina Bifida Prevention, Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia.

Objectives: Mandatory fortification of flour with folic acid has been proven to be a highly effective way to prevent spina bifida and anencephaly. Yet, over 100 countries worldwide do not implement this intervention. Our objectives were to identify countries with an immediate potential for mandatory fortification of wheat flour with folic acid and to estimate the number of preventable cases of spina bifida and anencephaly that would be averted each year through the intervention. Read More

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http://doi.wiley.com/10.1002/bdr2.1222
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http://dx.doi.org/10.1002/bdr2.1222DOI Listing
July 2018
3 Reads

Historical perspective on folic acid and challenges in estimating global prevalence of neural tube defects.

Ann N Y Acad Sci 2018 Feb;1414(1):20-30

Department of International Health, Johns Hopkins University, Bloomberg School of Public Health, Baltimore, Maryland.

Neural tube defects (NTD) are major congenital malformations affecting births worldwide. NTD are associated with life-long disability, significant medical care costs, and child mortality. Their prevalence varies worldwide. Read More

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http://dx.doi.org/10.1111/nyas.13601DOI Listing
February 2018
3 Reads

Identification of transcripts potentially involved in neural tube closure using RNA sequencing.

Genesis 2018 03 10;56(3):e23096. Epub 2018 Mar 10.

Department of Biology, University of Minnesota Duluth, Duluth.

Anencephaly is a fatal human neural tube defect (NTD) in which the anterior neural tube remains open. Zebrafish embryos with reduced Nodal signaling display an open anterior neural tube phenotype that is analogous to anencephaly. Previous work from our laboratory suggests that Nodal signaling acts through induction of the head mesendoderm and mesoderm. Read More

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http://dx.doi.org/10.1002/dvg.23096DOI Listing

Meckel Gruber syndrome associated with anencephaly-an unusual reported case.

Oxf Med Case Reports 2018 Feb 9;2018(2):omx092. Epub 2018 Feb 9.

Department of Obstetrics and Gynaecology, Ibri Regional Hospital, Ministry of Health, Ibri, Oman.

Meckel-Gruber syndrome (MGS) is a rare and lethal ciliopathic disorder, with the incidence ranging between 1 in 13 000-400 000 live births. MGS is characterized by multisystem developmental malformations with the classical features of renal cystic dysplasia, occipital encephalocele and post-axial polydactyly. Except for occipital encephalocele, the CNS abnormalities associated with MGS that are less frequently reported include hydrocephaly, anencephaly or malformation of cerebellum. Read More

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http://dx.doi.org/10.1093/omcr/omx092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5806412PMC
February 2018
10 Reads

Public health failure in the prevention of neural tube defects: time to abandon the tolerable upper intake level of folate.

Public Health Rev 2018 31;39. Epub 2018 Jan 31.

2Centre for the Study of the Senses, School of Advanced Study, University of London, London, UK.

The neural tube defects anencephaly and spina bifida are two of the most common serious congenital malformations. Most cases can be prevented by consuming sufficient folic acid immediately before pregnancy and in early pregnancy. Fortification of flour with folic acid to prevent these defects has been implemented in 81 countries without public objection or indication of harm. Read More

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https://publichealthreviews.biomedcentral.com/articles/10.11
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http://dx.doi.org/10.1186/s40985-018-0079-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5809909PMC
January 2018
3 Reads

Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort.

Hum Genet 2018 Mar 8;137(3):195-202. Epub 2018 Feb 8.

Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Reproduction and Development, Fudan University, Shanghai, 200011, China.

Neural tube defects (NTDs), which include spina bifida and anencephaly, are the second most common form of human structural congenital malformations. While it is well established that SHROOM3 plays a pivotal role in the complex morphogenetic processes involved in neural tube closure (NTC), the underlying genetic contributions of SHROOM gene family members in the etiology of human NTDs remain poorly understood. Herein, we systematically investigated the mutation patterns of SHROOM1-4 in a Chinese population composed of 343 NTD cases and 206 controls, using targeted next-generation sequencing. Read More

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http://dx.doi.org/10.1007/s00439-017-1864-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5876139PMC
March 2018
5 Reads

Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis: A case report study.

Medicine (Baltimore) 2017 Dec;96(50):e9020

Rationale: Sirenomelia and anencephaly are well-defined congenital malformations that usually occur independently.

Patient Concerns: We report a case of combined sirenomelia, anencephaly and complete rachischisis, diagnosed in the 16th week of gestation.

Diagnoses: To our knowledge, this is the 7th case in the literature and the first that is diagnosed so early in pregnancy. Read More

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http://dx.doi.org/10.1097/MD.0000000000009020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815709PMC
December 2017
11 Reads

Stillborn Infants: Associated Malformations.

Birth Defects Res 2018 01;110(2):114-121

Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Boston, Massachusetts.

Background: Stillbirth, defined as death of a fetus in utero after 20 weeks of gestation, occurs in 1 to 2% of pregnancies in the United States. Many of these stillborn infants have associated malformations, including chromosome abnormalities, neural tube defects, and malformation syndromes. Other causes are abnormalities of the placenta and maternal conditions, such as pre-eclampsia and obesity. Read More

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http://dx.doi.org/10.1002/bdr2.1097DOI Listing
January 2018
6 Reads

Iniencephaly.

Birth Defects Res 2018 01;110(2):128-133

Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Boston, Massachusetts.

Background: Iniencephaly is a severe developmental abnormality of the craniovertebral junction in which the head is retroflexed dramatically. Anatomic studies have identified striking changes in the vertebrae and skull: marked lordosis of the cervical vertebrae, duplicated cervical vertebrae, irregularly fused cervical vertebrae, a widened foramen magnum and a small posterior fossa. The affected infant appears to have no neck, as the skin of the face is continuous with the chest and the skin of the posterior scalp is continuous with the skin of the back. Read More

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http://dx.doi.org/10.1002/bdr2.1082DOI Listing
January 2018
4 Reads

Malformations among infants of mothers with insulin-dependent diabetes: Is there a recognizable pattern of abnormalities?

Birth Defects Res 2018 01;110(2):108-113

Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Boston, Massachusetts.

Background: Infants of diabetic mothers have been shown in several studies to have an increased frequency of malformations. In previous studies, an increased frequency of several specific malformations has been noted, including anencephaly, bilateral renal agenesis, and double outlet right ventricle. Surveillance, used to identify all malformed infants in a consecutive sample of births, can identify a distinctive pattern of malformations among the affected infants. Read More

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http://doi.wiley.com/10.1002/bdr2.1155
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http://dx.doi.org/10.1002/bdr2.1155DOI Listing
January 2018
5 Reads

Low carbohydrate diets may increase risk of neural tube defects.

Birth Defects Res 2018 Jul 25;110(11):901-909. Epub 2018 Jan 25.

North Carolina Birth Defects Monitoring Program, State Center for Health Statistics, North Carolina Division of Public Health, Raleigh, North Carolina.

Background: Folic acid fortification significantly reduced the prevalence of neural tube defects (NTDs) in the United States. The popularity of "low carb" diets raises concern that women who intentionally avoid carbohydrates, thereby consuming fewer fortified foods, may not have adequate dietary intake of folic acid.

Methods: To assess the association between carbohydrate intake and NTDs, we analyzed data from the National Birth Defects Prevention Study from 1,740 mothers of infants, stillbirths, and terminations with anencephaly or spina bifida (cases), and 9,545 mothers of live born infants without a birth defect (controls) conceived between 1998 and 2011. Read More

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http://dx.doi.org/10.1002/bdr2.1198DOI Listing
July 2018
3 Reads

Relationship of Methylation within Upper Stream Region of Transcription Starts Site of HOXA5 Gene with Neural Tube Defects.

Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2017 Dec;39(6):785-791

Institute of Reproductive & Child Health,Ministry of Health Key Laboratory of Reproductive Health,Department of Epidemiology and Biostatistics,School of Public Health,Peking University,Beijing 100191,China.

Objective To investigate the relationship between the methylation level of transcription starts site (TSS) upper stream of homeobox gene and the neural tube defects (NTDs). Methods A case-control study of two stages was designed. In the first stage,10 cases and 8 controls were extracted,in whom Illumina Infinium Human Methylation 450 k genome-wide beadchip was used for the quantification of DNA methylation levels of brain and spinal tissue. Read More

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http://dx.doi.org/10.3881/j.issn.1000-503X.2017.06.009DOI Listing
December 2017
6 Reads

Antibiotics Dispensed to Privately Insured Pregnant Women with Urinary Tract Infections - United States, 2014.

MMWR Morb Mortal Wkly Rep 2018 Jan 12;67(1):18-22. Epub 2018 Jan 12.

Urinary tract infections (UTIs) occur in about 8% of pregnant women, and untreated UTIs can have serious consequences, including pyelonephritis, preterm labor, low birth weight, and sepsis (1). Pregnant women are typically screened for UTIs during early pregnancy, and those with bacteriuria are treated with antibiotics (1,2). Antibiotic stewardship is critical to improving patient safety and to combating antibiotic resistance. Read More

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http://dx.doi.org/10.15585/mmwr.mm6701a4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5769793PMC
January 2018
55 Reads

A Novel Occulta-Type Spina Bifida Mediated by Murine Double Heterozygotes and Receptor Tyrosine Kinases.

Front Cell Dev Biol 2017 12;5:105. Epub 2017 Dec 12.

Faculty of Medicine, Department of Parasitology, University of Malaya, Kuala Lumpur, Malaysia.

Members of the Eph receptor tyrosine kinase have previously been implicated in cranial neural tube development. Failure of neural tube closure leads to the devastating conditions known as anencephaly and spina bifida. and are expressed at the tips of the closing spinal neural folds prior and during neural tube closure. Read More

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http://journal.frontiersin.org/article/10.3389/fcell.2017.00
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http://dx.doi.org/10.3389/fcell.2017.00105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732981PMC
December 2017
11 Reads

First and second trimester screening for fetal structural anomalies.

Semin Fetal Neonatal Med 2018 04 9;23(2):102-111. Epub 2017 Dec 9.

Department of Obstetrics and Gynaecology, University of Melbourne, Heidelberg, Victoria, Australia; Department of Perinatal Medicine, Mercy Hospital for Women, Heidelberg, Victoria, Australia; Public Health Genetics Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia. Electronic address:

Fetal structural anomalies are found in up to 3% of all pregnancies and ultrasound-based screening has been an integral part of routine prenatal care for decades. The prenatal detection of fetal anomalies allows for optimal perinatal management, providing expectant parents with opportunities for additional imaging, genetic testing, and the provision of information regarding prognosis and management options. Approximately one-half of all major structural anomalies can now be detected in the first trimester, including acrania/anencephaly, abdominal wall defects, holoprosencephaly and cystic hygromata. Read More

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http://dx.doi.org/10.1016/j.siny.2017.11.005DOI Listing
April 2018
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A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.

Clin Genet 2018 Apr 11;93(4):870-879. Epub 2018 Feb 11.

Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.

Neural tube defects (NTDs) affecting the brain (anencephaly) are lethal before or at birth, whereas lower spinal defects (spina bifida) may lead to lifelong neurological handicap. Collectively, NTDs rank among the most common birth defects worldwide. This study focuses on anencephaly, which despite having a similar frequency to spina bifida and being the most common type of NTD observed in mouse models, has had more limited inclusion in genetic studies. Read More

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http://dx.doi.org/10.1111/cge.13189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5887939PMC
April 2018
7 Reads

Total prevention of folic acid-preventable spina bifida and anencephaly would reduce child mortality in India: Implications in achieving Target 3.2 of the Sustainable Development Goals.

Birth Defects Res 2018 Mar 1;110(5):421-428. Epub 2017 Dec 1.

Center for Spina Bifida Prevention, Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia.

Background: The potential to reduce child mortality by preventing folic acid-preventable spina bifida and anencephaly (FAP SBA) is inadequately appreciated. To quantify possible reduction in FAP SBA-associated child mortality in low- and middle-income countries, we conducted an analysis to demonstrate in India, a country with more than 25 million births and 1.2 million under-five deaths each year, the decrease in neonatal, infant, and under-five mortality that would occur through total prevention of FAP SBA. Read More

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http://doi.wiley.com/10.1002/bdr2.1175
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http://dx.doi.org/10.1002/bdr2.1175DOI Listing
March 2018
5 Reads

Association between severe nausea and vomiting in early pregnancy and the risk of neural tube defects in Northern China.

Birth Defects Res 2018 03 28;110(5):406-412. Epub 2017 Nov 28.

Institute of Reproductive and Child Health/Key Laboratory of Reproductive Health, National Health and Family Planning Commission of the People's Republic of China, Peking University, Beijing 100191, People's Republic of China.

Background: This study assessed the association between severe NVP and the risk of NTD in offspring compared with a population and a malformed control group. We also assessed whether folic acid supplements modified this association.

Study Design And Setting: A case-control study was conducted with subjects enrolled from June 19, 2002, to November 18, 2014, from a population-based birth defects surveillance system that monitors major external structural birth defects through active case ascertainment in Shanxi Province, China. Read More

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http://dx.doi.org/10.1002/bdr2.1169DOI Listing
March 2018
11 Reads

Practice Bulletin No. 187: Neural Tube Defects.

Authors:

Obstet Gynecol 2017 12;130(6):e279-e290

Neural tube defects (NTDs) are congenital structural abnormalities of the central nervous system and vertebral column. Neural tube defects may occur as an isolated malformation, in combination with other malformations, as part of a genetic syndrome, or as a result of teratogenic exposure (1). Neural tube defects are the second-most-common major congenital anomaly (2) after cardiac malformations, and their prevalence varies by geographic region, race, and environmental factors (3). Read More

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http://dx.doi.org/10.1097/AOG.0000000000002412DOI Listing
December 2017
3 Reads

Practice Bulletin No. 187 Summary: Neural Tube Defects.

Authors:

Obstet Gynecol 2017 12;130(6):1394-1396

Neural tube defects (NTDs) are congenital structural abnormalities of the central nervous system and vertebral column. Neural tube defects may occur as an isolated malformation, in combination with other malformations, as part of a genetic syndrome, or as a result of teratogenic exposure (1). Neural tube defects are the second-most-common major congenital anomaly (2) after cardiac malformations, and their prevalence varies by geographic region, race, and environmental factors (3). Read More

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http://dx.doi.org/10.1097/AOG.0000000000002410DOI Listing
December 2017
6 Reads

Genetic epidemiology of neural tube defects.

J Pediatr Rehabil Med 2017 12;10(3-4):189-194

Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA.

It has been estimated that 60-70% of neural tube defects (NTDs) have a genetic component, but few causative genes have been identified. The lack of information on genes associated with non-syndromic NTDs in humans is especially notable as the "genomic revolution" has led to new tools (e.g. Read More

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http://dx.doi.org/10.3233/PRM-170456DOI Listing
December 2017
12 Reads

Maternal report of fever from cold or flu during early pregnancy and the risk for noncardiac birth defects, National Birth Defects Prevention Study, 1997-2011.

Birth Defects Res 2018 03 2;110(4):342-351. Epub 2017 Nov 2.

Texas Department of State Health Services, Birth Defects Epidemiology and Surveillance Branch, Austin, Texas.

Background: As maternal fever affects approximately 6-8% of early pregnancies, it is important to expand upon previous observations of an association between maternal fever and birth defects.

Methods: We analyzed data from the National Birth Defects Prevention Study, a multistate, case-control study of major structural birth defects. Telephone interviews were completed by mothers of cases (n = 17,162) and controls (n = 10,127). Read More

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http://dx.doi.org/10.1002/bdr2.1147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5831519PMC
March 2018
17 Reads

Prevalence and Risk of Birth Defects Observed in a Prospective Cohort Study: The Hokkaido Study on Environment and Children's Health.

J Epidemiol 2018 Mar 28;28(3):125-132. Epub 2017 Oct 28.

Hokkaido University Center for Environmental and Health Sciences.

Background: Prevalence rates of all anomalies classified as birth defects, including those identified before the 22nd gestational week, are limited in published reports, including those from the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). In our birth cohort study, we collected the data for all birth defects after 12 weeks of gestation.

Methods: Subjects in this study comprised 19,244 pregnant women who visited one of 37 associated hospitals in the Hokkaido Prefecture from 2003 through 2012, and completed follow-up. Read More

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http://dx.doi.org/10.2188/jea.JE20160108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5821689PMC
March 2018
4 Reads