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    Changing trends in the prevalence of anencephaly in Liaoning province of Northeast China from 2006-2015: data from a population-based birth defects registry.
    Oncotarget 2017 Apr 26. Epub 2017 Apr 26.
    Department of Science and Education, Shenyang Women and Children Health Care Centre, Shenyang, China.
    The goal of this study was to assess the prevalence and trends of anencephaly on the basis of a large population-based cases identified by the Liaoning Birth Defects Registry, which included 14 cities over a 10-year period. Anencephaly prevalence, percent change, average changeand the contribution rates of each city were calculated. Statistical analysis was undertaken on the basis of a Poisson regression model. Read More

    Prevalence of Neural Tube Defects and the Impact of Prenatal Diagnosis in Three Districts of Beijing, China.
    Paediatr Perinat Epidemiol 2017 May 2. Epub 2017 May 2.
    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, China.
    Background: The objectives of this study were to explore the prevalence of neural tube defects (NTDs) in three districts of Beijing, and to evaluate the impact of prenatal diagnosis on the prevalence.

    Methods: Data were collected between 2006 and 2012 from the Beijing Birth Defects Surveillance System. P13 and P28 represent the prevalence of NTDs diagnosed from 13 weeks and 28 weeks of gestation, respectively, to 7 days after delivery. Read More

    A pilot study on the association between rare earth elements in maternal hair and the risk of neural tube defects in north China.
    Environ Pollut 2017 Apr 12;226:89-93. Epub 2017 Apr 12.
    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 100191, PR China; Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, PR China. Electronic address:
    Rare earth elements (REEs) have many applications in industry, agriculture, and medicine, resulting in occupational and environmental exposure and concerns regarding REE-associated health effects. However, few epidemiological studies have examined the adverse effects of REEs on pregnancy outcomes. Therefore, this study examined the relationship between the REE concentrations in maternal hair growing during early pregnancy and the risk of neural tube defects (NTDs) in offspring. Read More

    Interaction between Maternal and Paternal SHMT1 C1420T Predisposes to Neural Tube Defects in the Fetus: Evidence from Case-Control and Family-Based Triad Approaches.
    Birth Defects Res 2017 Apr 14. Epub 2017 Apr 14.
    Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, Telangana State, India.
    Background: Neural tube defects (NTDs) are caused by the failure of neural tube formation which occurs during early embryonic development. NTDs are the most severe and leading cause of fetal mortality. Serine hydroxymethyl transferase (SHMT1) provides one-carbon units necessary for embryogenesis and defects in one-carbon production result in specific pathological conditions during pregnancy. Read More

    The fetal safety of clomiphene citrate: a population-based retrospective cohort study.
    BJOG 2017 Mar 23. Epub 2017 Mar 23.
    Department of Public Health, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
    Objective: To evaluate whether exposure to clomiphene citrate (CC) for ovulation induction is associated with major malformations overall or with specific fetal anomalies.

    Design: We conducted a population-based retrospective cohort study. Exposure was defined as CC dispension from 2 months before conception through the first month of pregnancy. Read More

    Neural tube closure and embryonic metabolism.
    Congenit Anom (Kyoto) 2017 Mar 13. Epub 2017 Mar 13.
    Department of Genetics, Graduate School of Pharmaceutical Sciences, The University of Tokyo, Bunkyo-ku, Tokyo, Japan.
    Neural tube closure (NTC) is an embryonic process during formation of the mammalian central nervous system. Disruption of the dynamic, sequential events of NTC can cause neural tube defects (NTD) leading to spina bifida and anencephaly in the newborn. NTC is affected by inherent factors such as genetic mutation or if the mother is exposed to certain environmental factors such as intake of harmful chemicals, maternal infection, irradiation, malnutrition, and inadequate or excessive intake of specific nutrients. Read More

    [Confrontation between ultrasound and fetopathological examination following therapeutic abortion performed in a maternity clinic in Tunisia].
    Pan Afr Med J 2016 21;25:256. Epub 2016 Dec 21.
    Service C du Centre de Maternité et de Néonatologie de Tunis, Faculté de Médecine de Tunis, Université Tunis El Manar, Tunisie.
    This study aims to evaluate the value of prenatal ultrasound diagnosis by comparing it with the results of the fetopathological examination in case of therapeutic interruption of pregnancy for fetal indication. We conducted a retrospective descriptive and analytical study carried out over a three-year period from January 2013 to December 2015. It involved 66 fetuses autopsied after therapeutic interruption of pregnancy for fetal indication. Read More

    Fetal brain anomalies detection during the first trimester: expanding the scope of antenatal sonography.
    J Matern Fetal Neonatal Med 2017 Feb 15:1-7. Epub 2017 Feb 15.
    a Antenatal Diagnostic Unit, Department of Obstetrics and Gynecology , Sheba Medical Center , Tel HaShomer , Ramat Gan , Israel.
    Purpose: The purpose of this study was to describe fetal brain anomalies identified during nuchal translucency (NT) examination and their clinical management.

    Materials And Methods: In this retrospective study, we evaluated charts of pregnant women performed the first trimester scan (FTS) between 1.1. Read More

    A detailed musculoskeletal study of a fetus with anencephaly and spina bifida (craniorachischisis), and comparison with other cases of human congenital malformations.
    J Anat 2017 Mar 7. Epub 2017 Mar 7.
    Department of Anatomy, Howard University College of Medicine, Washington, DC, USA.
    Few descriptions of the musculoskeletal system of humans with anencephaly or spina bifida exist in the literature. Even less is published about individuals in which both phenomena occur together, i.e. Read More

    Time trends in the prevalence and epidemiological characteristics of neural tube defects in Liaoning Province, China, 2006-2015: A population-based study.
    Oncotarget 2017 Mar;8(10):17092-17104
    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 Mar;26(6):1104-1114
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore 560012, India.
    Anencephaly (APH) 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 APH. APH 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 Dec 29;66:115-121. 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/ Key Laboratory of Reproductive Health, National Health and Family Planning Commission of the People's Republic of China, 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 2017 Feb;109(3):234-243
    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 2017 Jan;109(1):38-48
    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

    Nutrition, One-Carbon Metabolism and Neural Tube Defects: A Review.
    Nutrients 2016 Nov 23;8(11). Epub 2016 Nov 23.
    Department of Food Science and Nutrition, Zhejiang University, Hangzhou 310058, China.
    Neural tube defects (NTDs) are a group of severe congenital malformations, induced by the combined effects of genes and the environment. The most valuable finding so far has been the protective effect of folic acid supplementation against NTDs. However, many women do not take folic acid supplements until they are pregnant, which is too late to prevent NTDs effectively. Read More

    Genomic approaches to the assessment of human spina bifida risk.
    Birth Defects Res 2017 Jan;109(2):120-128
    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 2017 Feb;109(3):203-210
    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 2017 Jan;109(2):68-80
    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

    Absence of an anatomical origin for altered ductus venosus flow velocity waveforms in first-trimester human fetuses with increased nuchal translucency.
    Prenat Diagn 2016 Jun 10;36(6):537-44. Epub 2016 May 10.
    Department of Obstetrics, Leiden University Medical Center, Leiden, The Netherlands.
    Objective: To perform a morphological evaluation of the ductus venosus, heart and jugular lymphatic sac (JLS) in first-trimester human fetuses with normal and abnormal ductus venosus flow velocity waveforms (DV-FVWs) and normal and increased nuchal translucency (NT).

    Method: Postmortem examination was performed on fetuses with increased NT or structural malformations with previous NT and DV-FVW measurements. Ductus venosus morphology was examined using markers for endothelium, smooth muscle actin (SMA), nerves and elastic fibers. 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

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