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    Time trends in the prevalence and epidemiological characteristics of neural tube defects in Liaoning Province, China, 2006-2015: A population-based study.
    Oncotarget 2017 Feb 3. Epub 2017 Feb 3.
    Department of Science and Education, Shenyang Women and Children Health Care Centre, Shenyang, China.
    To evaluate the time trends in the prevalence of neural tube defects and all their subtypes as well as to identify the epidemiological characteristics of these malformations documented in the Liaoning Province of northeast China from 2006 to 2015. This was a population-based observational study using data from 3,248,954 live births as well as from 6217 cases of neural tube defects, 1,600 cases of anencephaly, 2,029 cases of spina bifida, 404 cases of encephalocele, and 3,008 cases of congenital hydrocephalus from 14 cities in Liaoning Province from 2006 to 2015. All analyses were conducted using SPSS software. Read More

    A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family.
    Hum Mol Genet 2017 Jan 13. Epub 2017 Jan 13.
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore 560012, India.
    Anencephaly is characterized by the absence of brain tissues and cranium. During primary neurulation stage of the embryo, the rostral part of the neural pore fails to close, leading to anencephaly. Anencephaly shows a heterogeneous etiology, ranging from environmental to genetic causes. Read More

    Secondary Myelitis in Dermal Sinus Causing Paraplegia in a Child with Previously Normal Neurological Function.
    Case Rep Neurol Med 2016 6;2016:8918954. Epub 2016 Dec 6.
    Department of Pediatrics, Kilimanjaro Christian Medical Centre, Moshi, Tanzania; Department of Internal Medicine, Kilimanjaro Christian Medical Centre, Moshi, Tanzania; Radboud University Medical Centre, Nijmegen, Netherlands.
    Neural tube defects result from failure of neural tube fusion during early embryogenesis, the fourth week after conception. The spectrum of severity is not uniform across the various forms of this congenital anomaly as certain presentations are not compatible with extrauterine life (anencephaly) while, on the other hand, other defects may remain undiagnosed as they are entirely asymptomatic (occult spina bifida). We report a child with previously normal neurological development, a devastating clinical course following superinfection of a subtle spina bifida defect which resulted in a flaccid paralysis below the level of the lesion and permanent neurological deficits following resolution of the acute infection and a back closure surgery. Read More

    Association between Titanium and Silver Concentrations in Maternal Hair and Risk of Neural Tube Defects in Offspring: A Case-Control Study in North China.
    Reprod Toxicol 2016 Oct 29. Epub 2016 Oct 29.
    Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, PR China; Institute of Reproductive and Child Health, Peking University Health Science Center, Beijing 100191, PR China.
    Increasing uses of titanium and silver in various products raise concerns for their potential adverse effects on pregnancy outcomes. We aimed to examine the associations between titanium and silver concentrations in maternal hair growing during the periconception period and the risk of neural tube defects (NTDs) in offspring. Our case-control study recruited 191 women with NTD-affected pregnancies and 261 women delivering healthy infants. Read More

    Association of essential trace metals in maternal hair with the risk of neural tube defects in offspring.
    Birth Defects Res A Clin Mol Teratol 2016 Dec 5. Epub 2016 Dec 5.
    Institute of Reproductive and Child Health, Peking University/ Key Laboratory of Reproductive Health, National Health and Family Planning Commission of the People's Republic of China, Beijing, P.R. China.
    Background: The relationship between essential trace metals (ETMs) and the risk of neural tube defects (NTDs) is still unclear. One of the challenges is to evaluate the intake of ETMs of women during their early period of pregnancy. We proposed the hypothesis that an ETM deficiency in women during their early period of pregnancy is associated with an elevated risk of NTDs in offspring. Read More

    Fetal malformation in maternal toxoplasma and rubella co-infection in Cameroon: a case report.
    J Med Case Rep 2016 Dec 3;10(1):345. Epub 2016 Dec 3.
    General Medicine, Faculty of Medicine and Biomedical Sciences, University of Yaounde 1, Yaounde, Republic of Cameroon.
    Background: There has been a recent increase in the number of newborns with brain malformations due to congenital infections, but the impact of these diseases remains largely under ascertained in middle-income and low-income countries. This case report presents a fetal anencephaly following maternal toxoplasma and rubella co-infection in a resource-limited setting and the challenges faced by the patient and the health care provider in the management of the condition.

    Case Presentation: A 25-year-old black Cameroonian woman of Bakossi origin, gravida3 para1010, presented with a positive rubella and toxoplasma immunoglobulin G serologic test at 21 weeks of pregnancy; she could not benefit from a fetal morphologic ultrasound partly because there was none at the site of her antenatal clinic and because there were accessibility constraints getting to the nearest referral hospital approximately 100 km away. Read More

    Race and ethnicity and preconception folic acid supplement use among pregnant women in Georgia, PRAMS 2009 to 2011.
    Birth Defects Res A Clin Mol Teratol 2016 Dec 1. Epub 2016 Dec 1.
    Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia.
    Background: The United States Public Health Service recommends that all women of reproductive age consume 400 μg of folic acid daily to prevent major neural tube defects. Hispanics have the highest prevalence of neural tube defects compared with other race/ethnic groups. We studied prevalence of preconception folic acid supplement use, and its association with race/ethnicity among pregnant women in Georgia. Read More

    Using state and provincial surveillance programs to reduce risk of recurrence of neural tube defects in the United States and Canada: A missed opportunity?
    Birth Defects Res A Clin Mol Teratol 2016 Nov;106(11):875-880
    College of Public Health, University of South Florida, Tampa, Florida.
    Background: Once a woman has had a fetus or infant affected with a neural tube defect (NTD), the risk of recurrence is approximately 3%. This risk can be significantly reduced by folic acid supplement consumption during the periconceptional period; however, this requires women at risk to be adequately informed about the appropriate dosage and timing of supplement intake before planning another pregnancy. As birth defects surveillance programs are tasked with identifying and documenting NTD-affected pregnancies and births, they are in a unique position to support recurrence prevention activities. Read More

    Genomic approaches to the assessment of human spina bifida risk.
    Birth Defects Res A Clin Mol Teratol 2016 Nov 24. Epub 2016 Nov 24.
    Dell Pediatric Research Institute, Department of Nutritional Sciences, The University of Texas at Austin, Austin, Texas.
    Structural birth defects are a leading cause of mortality and morbidity in children world-wide, affecting as much as 6% of all live births. Among these conditions, neural tube defects (NTDs), including spina bifida and anencephaly, arise from a combination of complex gene and environment interactions that are as yet poorly understood within human populations. Rapid advances in massively parallel DNA sequencing and bioinformatics allow for analyses of the entire genome beyond the 2% of the genomic sequence covering protein coding regions. Read More

    Research: Prevalence of neural tube defects Khartoum, Sudan August 2014-July 2015.
    BMC Res Notes 2016 Nov 24;9(1):495. Epub 2016 Nov 24.
    Academy of Medical Science and Technology, Khartoum, Sudan.
    Background: Neural tube defects (NTDs) are birth defects that results from failure of the neural tube to develop properly during early pregnancy.

    Methods: We studied the prevalence of neural tube defects in newborns admitted to the NICU in Soba University and Omdurman Maternity hospitals, during the period 1st August 2014 to 31st July 2015. A cross-sectional hospital based study, involved all newborns with any type of neural tube defect admitted to the NICU in the study area during the study period. Read More

    Prevalence of neural tube defects in a rural area of north india from 2001 to 2014: A population-based survey.
    Birth Defects Res A Clin Mol Teratol 2016 Nov 22. Epub 2016 Nov 22.
    Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India.
    Background: Neural tube defects (NTDs) are one of the commonest birth defects. There was paucity of community-based data on occurrence of NTDs in India, especially from rural parts of the country. Against this background, the current study was carried out with main objectives to determine the prevalence of NTDs and its specific types (anencephaly, spina bifida and encephalocele) in a rural community setting over the time period 2001 to 2014. Read More

    Evaluation of the Sensitivity and Accuracy of Birth Defects Indicators on the 2003 Revision of the U.S. Birth Certificate: Has Data Quality Improved?
    Paediatr Perinat Epidemiol 2017 Jan 18;31(1):67-75. Epub 2016 Nov 18.
    Birth Defects Surveillance Program, Department of Community and Family Health, College of Public Health, University of South Florida, Tampa, FL.
    Background: The 2003 revision of the U.S. Birth Certificate was restricted to birth defects readily identifiable at birth. Read More

    Newborn with meroanencephaly: Surviving all odds.
    J Pediatr Neurosci 2016 Jul-Sep;11(3):228-229
    Department of Pediatrics, J.N. Medical College, AMU, Aligarh, Uttar Pradesh, India.
    Neural tube defects are a group of congenital anomalies of brain development that carry a significant risk of morbidity and mortality. Anencephaly is a serious form of this defect with a very poor prognosis. It can present in three forms - meroanencephaly, holoanencephaly, and craniorachischisis. Read More

    Epidemiology of the neural tube defects in Kashmir Valley.
    J Pediatr Neurosci 2016 Jul-Sep;11(3):213-218
    Department of Obstetrics and Gynaecology, Lalded Womens Obstetrical/Gynaecological Hospital, Srinagar, Jammu and Kashmir, India.
    Introduction/background: Neural tube defects (NTD) are the most common congenital malformations affecting the brain and spinal cord and have a multifactorial etiology. Genetic and environmental factors have been found to cause these defects, both individually and in combination.

    Aims And Objectives: The aim of this study was to determine the incidence, types, demographics, risk factors, and other associated anomalies relevant to NTDs in Kashmir Valley. Read More

    Prolonged unassisted survival in an infant with anencephaly.
    BMJ Case Rep 2016 Oct 31;2016. Epub 2016 Oct 31.
    ProMedica Toledo Hospital, Toledo, USA.
    Anencephaly is one of the most lethal congenital defects. This case report is of an anencephalic infant who lived to 28 months of life and defies current literature. She is the longest surviving anencephalic infant who did not require life-sustaining interventions. Read More

    Associations between maternal periconceptional exposure to secondhand tobacco smoke and major birth defects.
    Am J Obstet Gynecol 2016 Nov 18;215(5):613.e1-613.e11. Epub 2016 Jul 18.
    Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT.
    Background: While associations between secondhand smoke and a few birth defects (namely, oral clefts and neural tube defects) have been noted in the scientific literature, to our knowledge, there is no single or comprehensive source of population-based information on its associations with a range of birth defects among nonsmoking mothers.

    Objective: We utilized data from the National Birth Defects Prevention Study, a large population-based multisite case-control study, to examine associations between maternal reports of periconceptional exposure to secondhand smoke in the household or workplace/school and major birth defects.

    Study Design: The multisite National Birth Defects Prevention Study is the largest case-control study of birth defects to date in the United States. Read More

    [Congenital anomalies of poor prognosis. Genetics Consensus Committee].
    Rev Chil Pediatr 2016 Sep - Oct;87(5):422-431. Epub 2016 May 24.
    Sección Genética, Hospital Clínico Universidad de Chile, Santiago, Chile; Clínica Alemana, Santiago, Chile.
    Introduction: The Genetic Branch of the Chilean Society of Paediatrics, given the draft Law governing the decriminalisation of abortion on three grounds, focusing on the second ground, which considers the "embryo or foetus suffering from a congenital structural anomaly or a genetic disorder incompatible with life outside the womb", met to discuss the scientific evidence according to which congenital anomalies (CA) may be included in this draft law.

    Methodology: Experts in clinical genetics focused on 10 CA, reviewed the literature evidence, and met to discuss it.

    Results: It was agreed not to use the term "incompatible with life outside the womb", as there are exceptions and longer survivals, and change to "congenital anomaly of poor prognosis (CAPP)". Read More

    Seasonal and Geographic Variation in Adverse Event Reporting.
    Drugs Real World Outcomes 2016 Sep;3(3):297-306
    Pfizer Inc., New York, NY, USA.
    Background: Many illnesses demonstrate seasonal and geographic variations. Pharmacovigilance is unique among public health surveillance systems in terms of the clinical diversity of the events under surveillance. Since many pharmacovigilance signal detection methodologies are geared towards looking for increased frequency of spontaneous adverse drug event (ADE) reporting over variable time frames, seasonality of ADEs may have implications for signal detection. Read More

    Diprosopus: Systematic review and report of two cases.
    Birth Defects Res A Clin Mol Teratol 2016 Dec 5;106(12):993-1007. Epub 2016 Oct 5.
    National Network of Congenital Anomalies of Argentina (RENAC), National Center for Genetic Medicine (CNGM), National Administration of Labs and Health Institutes (ANLIS), Buenos Aires, Argentina.
    Background: Diprosopus is a subtype of symmetric conjoined twins with one head, facial duplication and a single trunk. Diprosopus is a very rare congenital anomaly.

    Methods: This is a systematic review of published cases and the presentation of two new cases born in Argentina. Read More

    Maternal Antenatal Bereavement and Neural Tube Defect in Live-Born Offspring: A Cohort Study.
    PLoS One 2016;11(9):e0163355. Epub 2016 Sep 29.
    Department of Clinical Epidemiology, Aarhus University Hospital, Aarhus N, Denmark.
    Background: Maternal emotional stress during pregnancy has previously been associated with congenital neural malformations, but most studies are based on data collected retrospectively. The objective of our study was to investigate associations between antenatal maternal bereavement due to death of a close relative and neural tube defects (NTDs) in the offspring.

    Methods: We performed a register-based cohort study including all live-born children (N = 1,734,190) from 1978-2008. Read More

    Geographic clusters of congenital anomalies in Argentina.
    J Community Genet 2017 Jan 19;8(1):1-7. Epub 2016 Aug 19.
    ECLAMC (Latin American Collaborative Study of Congenital Malformations) at CEMIC (Center for Medical Education and Clinical Research), Buenos Aires, Argentina.
    Geographical clusters are defined as the occurrence of an unusual number of cases higher than expected in a given geographical area in a certain period of time. The aim of this study was to identify potential geographical clusters of specific selected congenital anomalies (CA) in Argentina. The cases were ascertained from 703,325 births, examined in 133 maternity hospitals in the 24 provinces of Argentina. Read More

    Birth defects and neonatal morbidity caused by teratogen exposure after the embryonic period.
    Birth Defects Res A Clin Mol Teratol 2016 Nov 11;106(11):935-939. Epub 2016 Aug 11.
    Departments of Pediatrics and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
    Background: Pharmaceutical pregnancy exposure registries seek to evaluate temporal associations between drug exposures and adverse outcomes, particularly congenital anomalies. These registries record observed associations that may or may not be causally-related to the exposure. Most major congenital malformations (i. Read More

    Check the Head: Emergency Ultrasound Diagnosis of Fetal Anencephaly.
    West J Emerg Med 2016 Jul 5;17(4):460-3. Epub 2016 Jul 5.
    West Virginia University School of Medicine, Department of Emergency Medicine, Morgantown, West Virginia.
    Background: Early pregnancy complaints in emergency medicine are common. Emergency physicians (EP) increasingly employ ultrasound (US) in the evaluation of these complaints. As a result, it is likely that rare and important diagnoses will be encountered. Read More

    A 2015 global update on folic acid-preventable spina bifida and anencephaly.
    Birth Defects Res A Clin Mol Teratol 2016 Jul;106(7):520-9
    Center for Spina Bifida Prevention, Department of Epidemiology, Rollins School of Public Health of Emory University, Atlanta, Georgia.
    Background: Spina bifida and anencephaly are two major neural tube defects. They contribute substantially to perinatal, neonatal, infant, and under-five mortality and life-long disability. To monitor the progress toward the total prevention of folic acid-preventable spina bifida and anencephaly (FAP SBA), we examined their global status in 2015. Read More

    The Risk of Specific Congenital Anomalies in Relation to Newer Antiepileptic Drugs: A Literature Review.
    Drugs Real World Outcomes 2016 Jun 24;3(2):131-143. Epub 2016 May 24.
    Department of Pharmacoepidemiology and Pharmacoeconomics, University of Groningen, A. Deusinglaan 1, 9713AV Groningen, The Netherlands.
    Background: More information is needed about possible associations between the newer anti-epileptic drugs (AEDs) in the first trimester of pregnancy and specific congenital anomalies of the fetus.

    Objectives: We performed a literature review to find signals for potential associations between newer AEDs (lamotrigine, topiramate, levetiracetam, gabapentin, oxcarbazepine, eslicarbazepine, felbamate, lacosamide, pregabalin, retigabine, rufinamide, stiripentol, tiagabine, vigabatrin, and zonisamide) and specific congenital anomalies.

    Methods: We searched PubMed and EMBASE to find observational studies with pregnancies exposed to newer AEDs and detailed information on congenital anomalies. Read More

    Effects of Neonicotinoid Pesticide Exposure on Human Health: A Systematic Review.
    Environ Health Perspect 2017 Feb 6;125(2):155-162. Epub 2016 Jul 6.
    Department of Environmental and Occupational Health, Milken Institute School of Public Health, George Washington University, Washington, DC, USA.
    Background: Numerous studies have identified detectable levels of neonicotinoids (neonics) in the environment, adverse effects of neonics in many species, including mammals, and pathways through which human exposure to neonics could occur, yet little is known about the human health effects of neonic exposure.

    Objective: In this systematic review, we sought to identify human population studies on the health effects of neonics.

    Methods: Studies published in English between 2005 and 2015 were searched using PubMed, Scopus, and Web of Science databases. Read More

    Quantification of plasma myo-inositol using gas chromatography-mass spectrometry.
    Clin Chim Acta 2016 Sep 21;460:88-92. Epub 2016 Jun 21.
    Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing 100020, China. Electronic address:
    Background: Myo-inositol (MI) deficiency is associated with an increased risk for neural tube defects (NTDs), mental disorders and metabolic diseases. We developed a gas chromatography-mass spectrometry (GC-MS) method to detect MI in human plasma, which was accurate, relatively efficient and convenient for clinical application.

    Methods: An external standard method was used for determination of plasma MI. Read More

    Inositol, neural tube closure and the prevention of neural tube defects.
    Birth Defects Res A Clin Mol Teratol 2016 Jun 21. Epub 2016 Jun 21.
    Newlife Birth Defects Research Centre and Developmental Biology & Cancer Programme, Institute of Child Health, University College London, London, United Kingdom.
    Susceptibility to neural tube defects (NTDs), such as anencephaly and spina bifida is influenced by genetic and environmental factors including maternal nutrition. Maternal periconceptional supplementation with folic acid significantly reduces the risk of an NTD-affected pregnancy, but does not prevent all NTDs, and "folic acid non-responsive" NTDs continue to occur. Similarly, among mouse models of NTDs, some are responsive to folic acid but others are not. Read More

    Screening for Open Neural Tube Defects.
    Clin Lab Med 2016 Jun 2;36(2):401-6. Epub 2016 Mar 2.
    Eurofins/NTD, 80 Ruland Road, Suite 1, Melville, NY 11747, USA.
    Biochemical prenatal screening was initiated with the use of maternal serum alpha fetoprotein to screen for open neural tube defects. Screening now includes multiple marker and sequential screening protocols involving serum and ultrasound markers to screen for aneuploidy. Recently cell-free DNA screening for aneuploidy has been initiated, but does not screen for neural tube defects. Read More

    Levels of folate receptor autoantibodies in maternal and cord blood and risk of neural tube defects in a Chinese population.
    Birth Defects Res A Clin Mol Teratol 2016 Aug 11;106(8):685-95. Epub 2016 May 11.
    Institute of Reproductive and Child Health/Ministry of Health Key Laboratory of Reproductive Health, Department of Epidemiology and Biostatistics, Peking University, Beijing, China.
    Background: After years of periconceptional folic acid supplementation, the prevalence of neural tube defects (NTDs) remains stable following the remarkable reduction observed immediately after the fortification practice. There is accumulating evidence that folate receptor (FR) autoimmunity may play a role in the etiology of folate-sensitive NTDs.

    Methods: From 2011 to 2013, 118 NTD cases and 242 healthy controls were recruited from a population-based birth defects surveillance system in Northern China. Read More

    Epidemiology of the neural tube defects in Kashmir Valley.
    Surg Neurol Int 2016 11;7:35. Epub 2016 Apr 11.
    Department of Obstetrics and Gynaecology, Government Lalla Ded Hospital, Srinagar, Jammu and Kashmir, India.
    Background: Neural tube defects (NTDs) are the most common congenital malformations affecting the brain and spinal cord and have a multifactorial etiology. Genetic and environmental factors have been found to cause these defects, both individually and in combination.

    Methods: A 2-year hospital-based prospective study was carried out from November 2013 to October 2015 to determine the incidence, types, demographics, risk factors, and other associated anamolies relevant to NTDs in Kashmir Valley. Read More

    Craniorachischisis Totalis with Congenital Diaphragmatic Hernia-A Rare Presentation of Fryns Syndrome.
    Fetal Pediatr Pathol 2016 11;35(3):192-8. Epub 2016 Apr 11.
    a Department of Pathology , Jawaharlal Nehru Medical College , Belgaum , India.
    Fryns syndrome is a multiple congenital anomaly syndrome with an autosomal recessive inheritance. Here we describe the autopsy case findings of a 19-week male fetus, born out of a consanguineous marriage. The dissection revealed left-sided diaphragmatic hernia, resulting in pulmonary hypoplasia and shift of heart to the right side. Read More

    Exposure of methyl mercury in utero and the risk of neural tube defects in a Chinese population.
    Reprod Toxicol 2016 Jun 2;61:131-5. Epub 2016 Apr 2.
    Institute of Reproductive and Child Health/Ministry of Health Key Laboratory of Reproductive Health, Peking University, China; Department of Epidemiology and Biostatistics, School of Public Health, Peking University, China. Electronic address:
    To determine if exposure to methyl mercury (MeHg) in utero is associated with an elevated risk of neural tube defects (NTDs), we measured its concentration in the placentas of 36 anencephalic and 44 spina bifida cases, as well as in 50 healthy controls. The median MeHg concentration in NTD cases (0.49ng/g) was higher than that in controls (0. Read More

    Effects of folic acid supplementation during different pregnancy periods and relationship with the other primary prevention measures to neural tube defects.
    J Matern Fetal Neonatal Med 2016 Dec 29;29(23):3894-901. Epub 2016 Mar 29.
    b Department of Epidemiology and Health Statistics , School of Public Health, Shandong University , Jinan , China .
    Objective: To find out the prevention effects of folic acid supplements during different pregnancy periods on neural tube defects (NTDs) and the relationship of folic acid supplements with the other NTDs' primary preventive measures.

    Methods: A 1:1 case-control study was conducted. Four hundred and fifty-nine women who delivered or gestate infants/fetuses with NTDs in the last two years were randomly selected as cases and were matched with women who delivered babies without obvious birth defects as controls. Read More

    A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure.
    Dis Model Mech 2016 May 17;9(5):585-96. Epub 2016 Mar 17.
    Department of Anatomy, Biochemistry, and Physiology, John A. Burns School of Medicine, University of Hawai'i, Honolulu, HI 96813, USA.
    Genetic variations affecting neural tube closure along the head result in malformations of the face and brain. Neural tube defects (NTDs) are among the most common birth defects in humans. We previously reported a mouse mutant called tuft that arose spontaneously in our wild-type 3H1 colony. Read More

    Discoursive Humanity as a Transcendental Basis for Cognitive (Dis)Ability Ethics and Policies.
    Camb Q Healthc Ethics 2016 Apr;25(2):262-71
    This article explicates two approaches to the basis of moral worth and status: Eva Kittay's relational view and Jeff McMahan's psychological personhood view. It is argued that these theories alone do not provide adequate support for the conclusions Kittay and McMahan want to draw concerning individuals whose entitlement to fundamental protections can be challenged-infants with severe cognitive disabilities and infants without the support of their families and social environments. The real justification can in each case be found in deeply held convictions regarding entities that must and entities that must not be included in the core community of moral equals. Read More

    Fetal MRI Characteristics of Exencephaly: A Case Report and Literature Review.
    Case Rep Radiol 2016 3;2016:9801267. Epub 2016 Feb 3.
    Department of Radiology, Saint Louis University School of Medicine, 3635 Vista Boulevard at Grand Boulevard, Saint Louis, MO 63110, USA.
    We present the fetal MRI characteristics of exencephaly, a rare malformation of the cranium. The fetus was initially misdiagnosed as anencephaly at 14 weeks of estimated gestational age (EGA) and later mislabeled as acrania at 20 weeks of EGA by ultrasound. A confirmatory magnetic resonance imaging (MRI) at 29 weeks of EGA demonstrated findings consistent with exencephaly, which was confirmed after birth. Read More

    Anencephaly: An Ongoing Investigation in Washington State.
    Am J Nurs 2016 Mar;116(3):60-6
    Sara Barron is a nursing instructor at Washington State University Tri-Cities in Richland, WA. Contact author: The author has disclosed no potential conflicts of interest, financial or otherwise.
    : In the spring of 2012, a nurse in Washington State detected a cluster of babies born with anencephaly-a fatal condition in which infants are born without parts of the brain or skull. The resulting investigation initially confirmed a rate of anencephaly between January 2010 and January 2013 of 8.4 per 10,000 live births-more than four times the national average. Read More

    Profiling placental and fetal DNA methylation in human neural tube defects.
    Epigenetics Chromatin 2016 16;9. Epub 2016 Feb 16.
    Child and Family Research Institute, 950 W 28th Ave, Vancouver, BC V5Z 4H4 UK ; Dept of Medical Genetics, University of British Columbia, C201-4500 Oak St, Vancouver, BC V6H 3N1 UK.
    Background: The incidence of neural tube defects (NTDs) declined by about 40 % in Canada with the introduction of a national folic acid (FA) fortification program. Despite the fact that few Canadians currently exhibit folate deficiency, NTDs are still the second most common congenital abnormality. FA fortification may have aided in reducing the incidence of NTDs by overcoming abnormal one carbon metabolism cycling, the process which provides one carbon units for methylation of DNA. Read More

    Prevalence and trend of neural tube defects in five counties in Shanxi province of Northern China, 2000 to 2014.
    Birth Defects Res A Clin Mol Teratol 2016 Apr 16;106(4):267-74. Epub 2016 Feb 16.
    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, Beijing, China.
    Background: The prevalence of neural tube defects (NTDs) in northern China is among the highest in the world. A massive folic acid supplementation program as a specific countermeasure was introduced in 2009. Examining trends in NTD prevalence may provide evidence for future intervention. Read More

    [Infant mortality from congenital malformations in Chile: temporal and spatial analysis, 1997-2011].
    Rev Panam Salud Publica 2015 Nov;38(5):380-7
    Area de Genética Médica y Poblacional, Hospital General Ramos Mejía, Buenos Aires, Argentina,
    Objective: To analyze the spatial and temporal distribution (1997-2011) of infant mortality resulting from congenital malformations (CM) in Chile.

    Methods: Data on births and deaths among infants aged less than one year using ICD-10 coding were obtained from the National Statistics Institute. The percentage of deaths from CM (PD-CM) and the infant mortality rate from CM (IMR-CM) during three different periods (1997-2001, 2002-2009, 2007-2011) were estimated for Chile's administrative and natural regions (Norte Grande, Norte Chico, Central, Austral, and Sur), broken down by systems (nervous, cardiovascular, digestive, genitourinary, musculoskeletal, and chromosomal abnormalities) and by 28 specific malformations. Read More

    Prevention of neural tube defects by the fortification of flour with folic acid: a population-based retrospective study in Brazil.
    Bull World Health Organ 2016 Jan 27;94(1):22-9. Epub 2015 Oct 27.
    Faculdades Integradas Pitágoras de Montes Claros, Montes Claros, Brazil .
    Objective: To determine if the fortification of wheat and maize flours with iron and folic acid - which became mandatory in Brazil from June 2004 - is effective in the prevention of neural tube defects.

    Methods: Using data from national information systems on births in central, south-eastern and southern Brazil, we determined the prevalence of neural tube defects among live births and stillbirths in a pre-fortification period - i.e. Read More

    Acardius acephalus fetus--report of distinctive anatomical anomalies with regards to pathophysiology of TRAP sequence.
    Clin Exp Obstet Gynecol 2015 ;42(6):814-8
    Acardiac fetuses are consequences of twin reversed arterial perfusion (TRAP). Here the authors present a case of 40-year-old gravida IX who gave birth to a healthy, 2,900 g female child by a cesarean section. Additionally amorphic 1,020 g maldeveloped fetus was removed. Read More

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