3,913 results match your criteria Anencephaly


Abnormal level of CUL4B-mediated histone H2A ubiquitination causes disruptive HOX gene expression.

Epigenetics Chromatin 2019 Apr 16;12(1):22. Epub 2019 Apr 16.

Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, 100020, China.

Background: Neural tube defects (NTDs) are common birth defects involving the central nervous system. Recent studies on the etiology of human NTDs have raised the possibility that epigenetic regulation could be involved in determining susceptibility to them.

Results: Here, we show that the H2AK119ub1 E3 ligase CUL4B is required for the activation of retinoic acid (RA)-inducible developmentally critical homeobox (HOX) genes in NT2/D1 embryonal carcinoma cells. Read More

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http://dx.doi.org/10.1186/s13072-019-0268-7DOI Listing
April 2019
2 Reads

Rare association of cyclopia with craniospinal rachischisis.

Indian J Pathol Microbiol 2019 Apr-Jun;62(2):283-286

Department of Pathology, Shri B. M. Patil Medical College, Hospital and Research Centre, Bijapur, Karnataka, India.

Cyclopia is a severe form of holoprosencephaly which results in children being born with just one eye, absence of nose and presence of a proboscis above the median eye. Incidence of cyclopia is around 1.05 in 1, 00,000 births, including stillbirths. Read More

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http://dx.doi.org/10.4103/IJPM.IJPM_275_17DOI Listing
April 2019
1 Read

Rare Case of "Diprosopus Bicephalous Triophthalmus" and Review of Literature.

J Pediatr Neurosci 2018 Oct-Dec;13(4):465-468

Department of Pathology, Employees' state Insurance Corporation Medical College &PGIMSR, Rajajinagar, Bangalore, Karnataka, India.

Diprosopus is a rare congenital anomaly, characterized by partial or complete duplication of the craniofacial structure. It constitutes 0.4% of all congenital anomalies. Read More

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http://www.pediatricneurosciences.com/text.asp?2018/13/4/465
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http://dx.doi.org/10.4103/JPN.JPN_31_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413600PMC
April 2019
4 Reads

Perinatal mortality associated with congenital defects of the central nervous system in Colombia, 2005-2014.

J Community Genet 2019 Mar 29. Epub 2019 Mar 29.

Institute of Human Genetics, Pontificia Universidad Javeriana, Carrera 7 No. 40 - 62 Building 32, Bogotá, 110231, Colombia.

In Colombia, congenital anomalies are the second leading cause of death in children aged less than 1 year, and central nervous system (CNS) anomalies are the second most common cause within this group. The aim of the study is to determine the frequency of perinatal mortality attributable to CNS anomalies in Colombia between 2005 and 2014. Using data from the Integral Information System of Social Protection (SISPRO), we determined the perinatal mortality rate associated with CNS anomalies; we also determined frequency of mortality according to age, type of abnormality, year of presentation, and georeferencing. Read More

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http://dx.doi.org/10.1007/s12687-019-00414-xDOI Listing
March 2019
1 Read

Evaluation of Neural Tube Defects (NTD) After Exposure to Raltegravir During Pregnancy.

J Acquir Immune Defic Syndr 2019 Mar 19. Epub 2019 Mar 19.

Department of Clinical Safety and Risk Management.

Objective: To evaluate the risk of neural tube defects (NTDs) after exposure to raltegravir during pregnancy.

Methods: Exposures to raltegravir during pregnancy reported cumulatively through 31-May-2018 to the company safety database were reviewed to identify cases of NTDs. This database includes all reports of pregnancy from Merck-sponsored clinical trials, spontaneous post-marketing and non-interventional data sources, including the Antiretroviral Pregnancy Registry (APR). Read More

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http://dx.doi.org/10.1097/QAI.0000000000002031DOI Listing
March 2019
1 Read

Real prevalence of neural tube defects in Japan: How many of such pregnancies have been terminated?

Congenit Anom (Kyoto) 2019 Mar 18. Epub 2019 Mar 18.

Department of Obstetrics and Gynecology, Kurume University Hospital, Kurume, Japan.

The vital role of folic acid is to reduce the risk of having a neonate afflicted with neural tube defects. The prevalence of neural tube defects (myelomeningocele and anencephaly) has been reported in an incomplete form over the last 40 years in Japan. We aimed to evaluate the total number of neural tube defects including those delivered or terminated, to clarify the proportion of those terminated, and to internationally compare their prevalence. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cga.12333
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http://dx.doi.org/10.1111/cga.12333DOI Listing
March 2019
6 Reads

Recurrent anencephalic stillbirths: A rare case presentation.

Authors:
Mohammad S Razai

Int J Health Sci (Qassim) 2019 Jan-Feb;13(1):61-62

Department of Population Health, St George's University of London, London.

Anencephaly is one of the three major lethal fetal anomalies. Termination of pregnancy is offered for all prenatally diagnosed cases, but some parents choose to continue with pregnancy with full obstetric intervention. I describe the case of a woman who had two pregnancies with anencephalic stillbirths in the third trimester. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6392488PMC
March 2019
1 Read

Association of maternal chronic arsenic exposure with the risk of neural tube defects in Northern China.

Environ Int 2019 May 23;126:222-227. Epub 2019 Feb 23.

Institute of Reproductive and Child Health, Department of Epidemiology and Biostatistics, School of Public Health, Peking University/Key Laboratory of Reproductive Health, National Health Commission of the People's Republic of China, Beijing 100191, PR China.

Numerous animal studies have shown that high arsenic exposure can induce neural tube defect (NTD) formation. However, epidemiological evidence related to this finding is scarce. The key objective of our study is to evaluate whether maternal arsenic exposure is associated with NTD risk in Northern China. Read More

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http://dx.doi.org/10.1016/j.envint.2019.02.016DOI Listing
May 2019
2 Reads

Application of quality indicators to data from the National Network of Congenital Anomalies of Argentina.

Birth Defects Res 2019 Apr 13;111(6):333-340. Epub 2019 Feb 13.

National Network of Congenital Anomalies of Argentina (RENAC), National Center of Medical Genetics, National Administration of Health Laboratories and Institutes, National Ministry of Health, Buenos Aires, Argentina.

Background: In Argentina, birth defects are a leading cause of infant deaths. In 2009, the National Network for Congenital Anomalies of Argentina (RENAC) was established as a hospital-based surveillance system of major structural birth defects. To assess and enhance the system's data quality, we previously developed data quality indicators (DQI). Read More

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http://dx.doi.org/10.1002/bdr2.1472DOI Listing
April 2019
1 Read

Short-term results of patients with neural tube defects followed-up in the Konya region, Turkey.

Birth Defects Res 2019 Mar 1;111(5):261-269. Epub 2019 Feb 1.

Department of Pediatrics, Selçuk University, Selçuklu Medical Faculty, Konya, Turkey.

Background: Additional congenital anomalies have often been found in patients with neural tube defect (NTD). We aimed to find out the clinical features, short term prognosis, treatment approaches, and systemic anomalies of NTD patients in the Konya region.

Method: A total of 186 newborn babies with NTD were retrospectively included in the study and all were assessed in detail for congenital anomalies and clinical features. Read More

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http://dx.doi.org/10.1002/bdr2.1462DOI Listing
March 2019
18 Reads

The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.

Hum Mol Genet 2019 Jan 25. Epub 2019 Jan 25.

Departments of Biochemistry and Molecular Biology.

Mutations in IRF6, TFAP2A and GRHL3 cause orofacial clefting syndromes in humans. However, Tfap2a and Grhl3 are also required for neurulation in mice. Here, we found that homeostasis of Irf6 is also required for development of the neural tube and associated structures. Read More

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http://dx.doi.org/10.1093/hmg/ddz010DOI Listing
January 2019
5 Reads

Women's periconceptional lowered carbohydrate intake and NTD-affected pregnancy risk in the era of prefortification with folic acid.

Birth Defects Res 2019 Mar 25;111(5):248-253. Epub 2019 Jan 25.

Department of Pediatrics, Division of Neonatal and Developmental Medicine, Stanford University School of Medicine, Stanford, California.

Background: A recent study observed women's restricted carbohydrate diet in the year before conception was associated with increased risk of neural tube defect (NTD)-affected pregnancies. That study corresponded to the era of postfortification of folic acid. Because folic acid and carbohydrate measures would derive from similar foods, investigators of that study could not determine whether the increased risk with restricted carbohydrate intake was a consequence of lower folate intake. Read More

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http://dx.doi.org/10.1002/bdr2.1466DOI Listing
March 2019
3 Reads

Anencephaly; the maternal experience of continuing with the pregnancy. Incompatible with life but not with love.

Midwifery 2019 Apr 25;71:12-18. Epub 2018 Dec 25.

Pregnancy Loss Research Group, Department of Obstetrics and Gynaecology, University College Cork, Cork, Ireland; Cork University Maternity Hospital, Wilton, Cork, Ireland; The Irish Centre for Fetal and Neonatal Translational Research (INFANT), University College Cork, Cork, Ireland.

Objective: As advances in prenatal diagnosis increasingly enable detection of life-limiting conditions, end-of-life care may start before birth. Termination of these pregnancies may have been default management, but in the Republic of Ireland, where termination is not a legal option, skilled experience in caring for mothers who continue their pregnancies has developed. This study examines the lived experience of four such mothers. Read More

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http://dx.doi.org/10.1016/j.midw.2018.12.016DOI Listing
April 2019
4 Reads

Best Mode of Delivery for Fetal Life-Limiting Conditions.

Obstet Gynecol 2019 Feb;133(2):368-371

Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of Connecticut, Farmington, Connecticut.

A 38-year-old woman, gravida 3 para 2, with a history of two prior vaginal deliveries, at 18 weeks of gestation is diagnosed with fetal anencephaly. The patient asks: "May I undergo a scheduled primary cesarean delivery to optimize my baby's chance of survival?" Read More

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http://dx.doi.org/10.1097/AOG.0000000000003065DOI Listing
February 2019
3 Reads

Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis.

Case Rep Obstet Gynecol 2018 28;2018:7058253. Epub 2018 Nov 28.

Department of Obstetrics, Perinatal Center, Fukuoka Children's Hospital, 5-1-1 Kashiiteriha, Higashi-ku, Fukuoka 813-0017, Japan.

Sirenomelia is a rare congenital malformation characterized by varying degrees of fusion of the lower extremities. It is commonly associated with severe urogenital and gastrointestinal malformations; however, the association of sirenomelia with anencephaly and rachischisis totalis is extremely rare. To our knowledge, the prenatal sonographic images of this association have not been previously published. Read More

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https://www.hindawi.com/journals/criog/2018/7058253/
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http://dx.doi.org/10.1155/2018/7058253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6304208PMC
November 2018
15 Reads

Measurement properties of the questionnaire "Mosaic of opinions on induced abortion": a multicenter study in seven Brazilian hospitals.

Rev Assoc Med Bras (1992) 2018 Dec;64(12):1091-1102

Maternity School Assis Chateaubriand, Fortaleza (CE), Brasil.

Objective: In Brasil, abortion is legal in cases of rape, when there is a risk of maternal death, and in cases of fetal anencephaly. However, the literature reports that some doctors refuse to care for women with such demands or come to perform it in a discriminatory manner. Pretest, test and evaluate the measurement properties of the "Mosaic of Opinions on Induced Abortion," a questionnaire developed to investigate the perspectives of Brazilian healthcare professionals about the morality of abortion. Read More

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http://dx.doi.org/10.1590/1806-9282.64.12.1091DOI Listing
December 2018
3 Reads

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

Ann Pathol 2019 Feb 12;39(1):24-28. 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
February 2019
3 Reads

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 12 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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https://nutritionj.biomedcentral.com/articles/10.1186/s12937
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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
1 Read

Aerodigestive and communicative behaviors in anencephalic and hydranencephalic infants.

Birth Defects Res 2019 Jan 10;111(2):41-52. 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
January 2019
3 Reads

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

Nutr J 2018 11 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
3 Reads

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6442210PMC
January 2018
6 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
April 2019
26 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
31 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
8 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
3 Reads

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
3 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

1Department 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
10 Reads

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

Birth Defects Res 2018 11 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
3 Reads

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
17 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 12;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
5 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
3 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
16 Reads

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

Birth Defects Res 2018 08 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
19 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
January 2019
6 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
5 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
10 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
10 Reads

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

BMC Pediatr 2018 05 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
4 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
22 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
5 Reads

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

Mol Genet Metab 2018 05 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
13 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
9 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
8 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 07 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
Publisher Site
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
9 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
March 2018
1 Read

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
25 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
4 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
8 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
14 Reads