3,987 results match your criteria Anencephaly


A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate.

Clin Genet 2020 Jul 3. Epub 2020 Jul 3.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

Neural tube defects (NTD) are among the most common congenital anomalies, affecting about 1:1000 births. In most cases, the etiology of NTD is multifactorial and the genetic variants associated with them remain largely unknown. There is extensive evidence from animal models over the past two decades implicating SHROOM3 in neural tube formation; however, its exact role in human disease has remained elusive. Read More

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http://dx.doi.org/10.1111/cge.13804DOI Listing

Major birth defects in the Brazilian side of the triple border: a population-based cross-sectional study.

Arch Public Health 2020 30;78:61. Epub 2020 Jun 30.

Latin-American Institute of Life and Natural Sciences, Federal University of Latin-American Integration, Foz do Iguassu, Parana Brazil.

Background: Major birth defects increase the risk of fetal death and pediatric hospitalization, which also impact on healthcare costs. Sociodemographic factors can drastically affect reproductive health and be used to discriminate the exposure to hidden risk factors. Foz do Iguassu is a Brazilian city located in the triple-border region of Brazil / Paraguay / Argentina with high rates of birth defects. Read More

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http://dx.doi.org/10.1186/s13690-020-00443-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325680PMC

WDR34 mutation from anencephaly patients impaired both SHH and PCP signaling pathways.

J Hum Genet 2020 Jun 23. Epub 2020 Jun 23.

Obstetrics & Gynecology Hospital, Institute of Reproduction & Development, Fudan University, Shanghai, China.

Neural tube defects (NTDs) are debilitating human congenital abnormalities due to failure of neural tube closure. Sonic Hedgehog (SHH) signaling is required for dorsal-ventral patterning of the neural tube. The loss of activation in SHH signaling normally causes holoprosencephaly while the loss of inhibition causes exencephaly due to failure in neural tube closure. Read More

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http://dx.doi.org/10.1038/s10038-020-0793-zDOI Listing

The role of the "beret" sign and other markers in ultrasound diagnostic of the acrania-exencephaly-anencephaly sequence stages.

Arch Gynecol Obstet 2020 Jun 15. Epub 2020 Jun 15.

3rd Chair and Department of Gynecology, Medical University of Lublin, Lublin, Poland.

Introduction: Neural tube defects (NTDs) are a group of heterogeneous congenital anomalies of the central nervous system (CNS). Acrania is a non-NTD congenital disorder related to the CNS. It can transform into anencephaly through the acrania-exencephaly-anencephaly sequence (AEAS). Read More

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http://dx.doi.org/10.1007/s00404-020-05650-yDOI Listing

Maternal exposure to ambient particulate matter 10 μm or less in diameter before and after pregnancy, and anencephaly risk: A population-based case-control study in China.

Environ Res 2020 Jun 3;188:109757. Epub 2020 Jun 3.

Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang, China. Electronic address:

Background: There is no epidemiological evidence on the effects of maternal exposure to ambient particulate matter 10 μm or less in diameter (PM) and anencephaly risk in offspring.

Methods: We conducted a population-based case-control study in Liaoning Province, China. The case group consisted of 663 cases with anencephaly and the control group consisted of 7950 healthy infants from the Maternal and Child Health Certificate Registry of Liaoning Province that were born between 2010 and 2015. Read More

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http://dx.doi.org/10.1016/j.envres.2020.109757DOI Listing

Prevalence of congenital malformations at the "les Orangers" maternity and reproductive health Hospital of Rabat: descriptive study of 470 anomalies.

BMC Pediatr 2020 Jun 3;20(1):272. Epub 2020 Jun 3.

Congenital anomalies research team, Faculty of Medicine and Pharmacy of Rabat, University Mohamed V Rabat, B.P: 174 Downtown-Rabat, Rabat, Morocco.

Background: Congenital malformations are described in about 3% of live births and 20% of stillbirths in the industrialized countries. The prevalence of congenital anomalies in developing countries, including Morocco, is not well known at the national level. The aim of our study is to conduct a descriptive exploratory analysis of congenital malformations cases diagnosed at the "Les Orangers" Maternity and Reproductive Health Hospital in Rabat. Read More

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http://dx.doi.org/10.1186/s12887-020-02179-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268369PMC

Relative Prevalence and Outcome of Fetal Neural Tube Defect in a Developing Country.

J Obstet Gynaecol India 2020 Jun 18;70(3):195-201. Epub 2020 Apr 18.

Pediatric Surgery, KSCH, New Delhi, India.

Objectives: To find out the relative prevalence of fetal neural tube defect (NTD) and its outcome in terms of survival at birth and beyond 2 years of age.

Methods: A 10-year prospective (2008-2018) observational study was performed, which included all prenatally detected fetal NTD. Two-year follow-up was done in cases of pregnancies resulting in live birth, in terms of their survival, physical morbidity and developmental delay. Read More

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http://dx.doi.org/10.1007/s13224-020-01311-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7239972PMC

Closing in on Mechanisms of Open Neural Tube Defects.

Trends Neurosci 2020 Jul 15;43(7):519-532. Epub 2020 May 15.

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92025, USA. Electronic address:

Neural tube defects (NTDs) represent a failure of the neural plate to complete the developmental transition to a neural tube. NTDs are the most common birth anomaly of the CNS. Following mandatory folic acid fortification of dietary grains, a dramatic reduction in the incidence of NTDs was observed in areas where the policy was implemented, yet the genetic drivers of NTDs in humans, and the mechanisms by which folic acid prevents disease, remain disputed. Read More

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http://dx.doi.org/10.1016/j.tins.2020.04.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7321880PMC

Study of Lethal Congenital Malformations at a Tertiary-Care Referral Centre in North India.

Cureus 2020 Apr 1;12(4):e7502. Epub 2020 Apr 1.

Obstetrics and Gynaecology, Maulana Azad Medical College, New Delhi, IND.

Lethal congenital malformations (LCMs) are fatal birth defects that are an important cause of fetal/neonatal death. There is a lack of informative data about these malformations in India, a country that shares the maximum burden of neonatal mortality due to congenital birth defects. Therefore, we conducted a retrospective analysis to know the prevalence of LCMs in late pregnancy, to find out associated factor/variables and to evaluate fetal/neonatal outcome of such anomalies; at a tertiary-care referral centre in North India. Read More

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http://dx.doi.org/10.7759/cureus.7502DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7195199PMC

Neural tube defects in four Shetland sheepdog puppies: clinical characterisation and computed tomography investigation.

Aust Vet J 2020 Apr 22. Epub 2020 Apr 22.

Faculty of Science, Sydney School of Veterinary Science, The University of Sydney, Sydney, New South Wales, Australia.

Background: Here, we report on the occurrence of neural tube defects (NTDs) in four related Shetland sheepdog puppies. NTDs present as a range of congenital malformations affecting the spine, skull and associated structures. Despite the severity of these malformations and their relatively high prevalence in humans, the aetiology is not well understood. Read More

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http://dx.doi.org/10.1111/avj.12949DOI Listing

Report of an experience to expand access to legal abortion for rape victims in the city of Rio de Janeiro, Brazil.

Cad Saude Publica 2020 6;36Suppl 1(Suppl 1):e00181219. Epub 2020 Apr 6.

Secretaria Municipal de Saúde do Rio de Janeiro, Rio de Janeiro, Brasil.

The article reports on an experience developed by the Rio de Janeiro Municipal Health Department (SMS-RJ) to expand the number of municipal maternity hospitals that provide legal abortion for rape victims. Brazil's legislation allows legal abortions in three cases: risk to the woman's life, rape, and fetal anencephaly. Given the high rate of sexual violence against Brazilian women, health professionals working in the Brazilian Unified National Health System (SUS) need to be trained for such care with abortion as the potential outcome if that is the woman's choice. Read More

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http://dx.doi.org/10.1590/0102-311X00181219DOI Listing

Quantification of selection bias in studies of risk factors for birth defects among livebirths.

Paediatr Perinat Epidemiol 2020 Apr 6. Epub 2020 Apr 6.

Center for Birth Defects Research and Prevention, Massachusetts Department of Public Health, Boston, Massachusetts.

Background: Risk factors for birth defects are frequently investigated using data limited to liveborn infants. By conditioning on survival, results of such studies may be distorted by selection bias, also described as "livebirth bias." However, the implications of livebirth bias on risk estimation remain poorly understood. Read More

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http://dx.doi.org/10.1111/ppe.12650DOI Listing

Lower rates of neural tube defects in Israel following folic acid supplementation policy.

Prev Med 2020 Mar 24:106064. Epub 2020 Mar 24.

Tel Aviv Medical Center, Tel Aviv, Israel; Tel Aviv University, Tel Aviv, Israel.

Neural tube defects (NTDs) are common and disabling congenital malformations that remain a public health challenge despite prevention efforts. In 2000, The Israeli Ministry of Health published recommendations on daily folic acid (FA) supplementation for women of reproductive age and established a national NTD registry. This study aims to evaluate the long-term impact of the FA supplementation policy on NTD rates in Israel and the need for further intervention. Read More

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http://dx.doi.org/10.1016/j.ypmed.2020.106064DOI Listing

Neonatal Organ and Tissue Donation for Research: Options Following Death by Natural Causes.

Cell Tissue Bank 2020 Jun 13;21(2):289-302. Epub 2020 Mar 13.

Department of Neonatology, Cleveland Clinic Foundation, Cleveland, OH, USA.

The donation of organs and tissues from neonates (birth to 28 days) for transplantation has been a relatively infrequent occurrence. Less common has been the use of neonatal organs and tissues for research. Specific ethical and legal questions beg for rational and transparent guidelines with which to evaluate referrals of potential donors. Read More

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http://dx.doi.org/10.1007/s10561-020-09822-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7223177PMC

Ultrasound Appearances of the Acrania-Anencephaly Sequence at 10 to 14 Weeks' Gestation.

J Ultrasound Med 2020 Mar 10. Epub 2020 Mar 10.

Monash Ultrasound for Women, Melbourne, Victoria, Australia.

Objectives: The acrania-anencephaly sequence is a lethal condition with a high detection rate in experienced hands after 10 weeks' gestation. However, earlier in gestation, many cases remain undetected. Different phenotypic appearances have been described and might help increase the detection rate in less experienced hands and also earlier in gestation. Read More

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http://dx.doi.org/10.1002/jum.15267DOI Listing

Association between maternal periconceptional alcohol consumption and neural tube defects: Findings from the National Birth Defects Prevention Study, 1997-2011.

Birth Defects Res 2020 Mar 27;112(5):427-439. Epub 2020 Feb 27.

Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa.

Background: Neural tube defects (NTD)s are common birth defects with a multifactorial etiology. Findings from human studies examining environmental (non-inherited) exposures tend to be inconclusive. In particular, although animal studies of alcohol exposure and NTDs support its teratogenic potential, human studies are equivocal. Read More

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http://dx.doi.org/10.1002/bdr2.1656DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7099604PMC

Association between body mass index and folate insufficiency indicative of neural tube defects risk among nonpregnant women of childbearing age in the United States, NHANES, 2007-2010.

Birth Defects Res 2020 Apr 13;112(6):490-502. Epub 2020 Feb 13.

Department of Epidemiology, Rollins School of Public Health of Emory University, Atlanta, Georgia.

Background: Maternal folate status and obesity are known risk factors for neural tube defects (NTD) in the offspring. We examined the association between body mass index (BMI) categories and blood folate concentrations, specifically, red blood cell (RBC) folate concentrations indicative of NTD risk among nonpregnant women of child-bearing age (20-44 years) in the United States.

Methods: We used data from 2007 to 2010 US National Health and Nutrition Examination Survey (NHANES). Read More

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http://dx.doi.org/10.1002/bdr2.1658DOI Listing

Legal abortion in Brazil: systematic review of the scientific production, 2008-2018.

Cad Saude Publica 2020 10;36Suppl 1(Suppl 1):e00189718. Epub 2020 Feb 10.

Instituto de Saúde Coletiva, Universidade Federal da Bahia, Salvador, Brasil.

Previous reviews on the subject of abortion in Brazil have estimated one million procedures per year but did not address legal abortion. This systematic review sought to update knowledge regarding legal abortion in terms of service and women's profile, student and doctor knowledge, situations of anencephaly and severe malformations. We searched MEDLINE and LILACS for articles published in all languages between 2008 and 2018. Read More

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http://dx.doi.org/10.1590/0102-311X00189718DOI Listing
February 2020

Pro-abortion rights narratives in Brazil, 1976 to 2016.

Cad Saude Publica 2020 10;36Suppl 1(Suppl 1):e00189018. Epub 2020 Feb 10.

Universidade de São Paulo, São Paulo, Brasil.

The article explores pro-abortion rights narratives in Brazil based on the narrative policy framework (NPF). I analyzed pro-abortion rights documents written by feminist activists from 1976 to 1988 and documents from feminist organizations, law proposals and policy documents regarding abortions produced between 1989 and 2016. I carried out a content analysis of both sets of documents using the OpenLogos software. Read More

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http://dx.doi.org/10.1590/0102-311X00189018DOI Listing
February 2020

On the way to interrupting the gestation or not: experiences of pregnant women with anencephalic fetuses.

Cien Saude Colet 2020 Feb 17;25(2):429-438. Epub 2018 Jun 17.

Escola de Enfermagem Anna Nery, Universidade Federal do Rio de Janeiro. Rio de Janeiro, RJ, Brasil.

Anencephaly is a malformation characterized by the total or partial absence of the brain, and Brazil records the fourth largest number of births of anencephalic fetuses in the world. Fetal anencephaly is associated with a more significant number of maternal complications. As of 2012, women with anencephalic gestation were empowered with the right to carry the pregnancy to term or terminate it, if they so desired, without any judicial authorization. Read More

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http://dx.doi.org/10.1590/1413-81232020252.14812018DOI Listing
February 2020

Presence of congenital anomalies in three dog litters.

Reprod Domest Anim 2020 May 17;55(5):652-655. Epub 2020 Feb 17.

Department of Animal Health and Preventive Medicine, Faculty of Veterinary Medicine and Animal Science, Autonomous University of Yucatan, Merida, Mexico.

This report describes multiple congenital malformations found in three dog litters delivered by emergency caesarean section. In all of the litters, some puppies were born alive but were euthanized because of the seriousness of their malformations and low probability of survival. In two litters, gastroschisis was associated with amelia of the right anterior limb. Read More

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http://dx.doi.org/10.1111/rda.13652DOI Listing

Craniorachischisis with Exencephaly.

Fetal Pediatr Pathol 2020 Jan 27:1-4. Epub 2020 Jan 27.

Pathology, Immunology and Laboratory Medicine, Rutgers New Jersey Medical School, Newark, NJ, USA.

Neural tube defects can be as mild as spina bifida, to as severe as anencephaly, with only a fraction of these cases presenting as both craniorachischisis and exencephaly. The G3, P1011 mother was 25-years old, who at an estimated fetal gestational age of 17 weeks had a fetal diagnosis of anencephaly based on a sonogram, resulting in elective pregnancy termination. The female fetus had an open neural tube defect, consisting of craniorachischisis and exencephaly. Read More

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http://dx.doi.org/10.1080/15513815.2020.1716282DOI Listing
January 2020

Prenatal diagnosis of birth defects and termination of pregnancy in Hunan Province, China.

Prenat Diagn 2020 Jan 18. Epub 2020 Jan 18.

NHC Key Laboratory of Birth Defect for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.

Objective: The aim of this study was to analyse the characteristics of the prenatal diagnosis (PD) of birth defects (BDs) and termination of pregnancy (TOP) for fetal anomalies and to suggest perinatal management.

Methods: BD surveillance data were collected from 52 registered hospitals in Hunan between 2015 and 2018. The PD and TOP rates of BDs were calculated to examine the associations between infant sex, maternal age, and region. Read More

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http://dx.doi.org/10.1002/pd.5648DOI Listing
January 2020
2.514 Impact Factor

Prenatal detection of congenital anomalies and related factors in Argentina.

J Community Genet 2020 Jul 3;11(3):313-320. Epub 2020 Jan 3.

National Network of Congenital Anomalies of Argentina (RENAC), National Center of Medical Genetics (CNGM), National Administration of Laboratories and Health Institutes (ANLIS), National Ministry of Health and Social Development, Av. Las Heras 2670, C1425ASP, Buenos Aires, Argentina.

Congenital anomalies (CAs) are a leading cause of neonatal death. Many CAs can be diagnosed prenatally. To estimate the prenatal detection rate (PDR) of CA in hospitals participating in the RENAC (National Network of Congenital Anomalies of Argentina) and to analyze the PDR according to different factors. Read More

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http://dx.doi.org/10.1007/s12687-019-00451-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7295886PMC

Birth prevalence of congenital anomalies in the City of Buenos Aires, Argentina, according to socioeconomic level.

J Community Genet 2020 Jul 3;11(3):303-311. Epub 2020 Jan 3.

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.

The goal of our study is to describe the prevalence of congenital anomalies (CA) in hospitals of the City of Buenos Aires, Argentina, according to two proxy variables of the socioeconomic level: health subsector, public (PUB) versus private/social security (PRI), and geographical location, northern (N) versus southern (S). The source of data was the National Network of Congenital Anomalies of Argentina (RENAC) (period 2010-2016). From a total of 228,208 births, 4872 newborns with CA were detected (2. Read More

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http://dx.doi.org/10.1007/s12687-019-00449-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7295923PMC

Reduced H3K27me3 leads to abnormal Hox gene expression in neural tube defects.

Epigenetics Chromatin 2019 12 19;12(1):76. Epub 2019 Dec 19.

Department of Biochemistry and Molecular Biology, Shanxi Medical University, Taiyuan, 030001, Shanxi, China.

Background: Neural tube defects (NTDs) are severe, common birth defects that result from failure of normal neural tube closure during early embryogenesis. Accumulating strong evidence indicates that genetic factors contribute to NTDs etiology, among them, HOX genes play a key role in neural tube closure. Although abnormal HOX gene expression can lead to NTDs, the underlying pathological mechanisms have not fully been understood. Read More

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http://dx.doi.org/10.1186/s13072-019-0318-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6921514PMC
December 2019

Cannabis Consumption Patterns Explain the East-West Gradient in Canadian Neural Tube Defect Incidence: An Ecological Study.

Glob Pediatr Health 2019 11;6:2333794X19894798. Epub 2019 Dec 11.

University of Western Australia, Crawley, Western Australia, Australia.

While a known link between prenatal cannabis exposure and anencephaly exists, the relationship of prenatal cannabis exposure with neural tube defects (NTDs) generally has not been defined. Published data from Canada Health and Statistics Canada were used to assess this relationship. Both cannabis use and NTDs were shown to follow an east-west and north-south gradient. Read More

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http://dx.doi.org/10.1177/2333794X19894798DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6906350PMC
December 2019

Whole-Exome Sequencing Identifies Damaging Variants in Anencephalic Cases.

Front Neurosci 2019 29;13:1285. Epub 2019 Nov 29.

Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, United States.

Background: Anencephaly is a lethal neural tube defect (NTD). Although variants in several genes have been implicated in the development of anencephaly, a more complete picture of variants in the genome, especially variants (DNVs), remains unresolved. We aim to identify DNVs that play an important role in the development of anencephaly by performing whole-exome DNA sequencing (WES) of proband-parent trios. Read More

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http://dx.doi.org/10.3389/fnins.2019.01285DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896715PMC
November 2019

[Pre- and Postnatal Diagnosis of Congenital Central Nervous System Anomalies in Iceland in 1992-2016].

Laeknabladid 2019 Dec;105(12):547-553

Faculty of Medicine, University of Iceland, Department of Prenatal Diagnosis, Landspítali - The National University Hospital of Iceland.

Introduction: The incidence of congenital anomalies of the central nervous system (CNS) in Iceland during 1992-2016 was examined along with timing of diagnosis, maternal residence, known risk factors and perinatal outcomes.

Material And Methods: This was a retrospective study of all fe-tuses and newborns diagnosed with a CNS anomaly during the study period and their mothers. Information was obtained from the Icelandic Birth Registry and from maternal and neonatal medical records. Read More

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http://dx.doi.org/10.17992/lbl.2019.12.260DOI Listing
December 2019

Dynamic acetylation profile during mammalian neurulation.

Birth Defects Res 2020 Jan 23;112(2):205-211. Epub 2019 Nov 23.

UCL Great Ormond Street Institute of Child Health, University College London, London, UK.

Background: Neural tube defects (NTDs) result from failure of neural tube closure during embryogenesis. These severe birth defects of the central nervous system include anencephaly and spina bifida, and affect 0.5-2 per 1,000 pregnancies worldwide in humans. Read More

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http://dx.doi.org/10.1002/bdr2.1618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7004172PMC
January 2020

Study of Prostate Growth in Prune Belly Syndrome and Anencephalic Fetuses.

J Pediatr Surg 2019 Nov 5. Epub 2019 Nov 5.

Urogenital Research Unit, State University of Rio de Janeiro, Brazil.

Background: To compare the growth of the prostate in anencephalic, prune belly syndrome (PBS) and control fetuses.

Methods: We studied 35 prostates from normal human fetuses aged 11-22 weeks postconception (WPC); 15 from anencephalic fetuses aged 13-19 WPC; and 6 from PBS fetuses aged 13-31WPC. After prostate dissection, we evaluated the prostate length, width and thickness with the aid of a computer program (Image Pro and Image J). Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2019.10.054DOI Listing
November 2019

An Unusual First-Trimester Ultrasound Presentation of the Acrania-Anencephaly Sequence: The "Turkish Turban" Sign.

J Ultrasound Med 2020 Apr 9;39(4):829-832. Epub 2019 Nov 9.

Monash Ultrasound for Women, Monash University, Melbourne, Victoria, Australia.

A previously unrecognized first-trimester presentation of the acrania-anencephaly sequence is described. Ultrasound features included a constriction ring around the external base of the developing skull and an enlarged globular head, resembling a Turkish turban, with large cystic spaces replacing the brain. This constellation of findings was noted in 3 first-trimester fetuses. Read More

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http://dx.doi.org/10.1002/jum.15161DOI Listing

Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2020 Mar 8;22(3):462-474. Epub 2019 Nov 8.

University of South Carolina SOM Greenville, Greenville, SC, USA.

Open neural tube defects (ONTDs) include open spina bifida (OSB) and anencephaly. These defects are caused by incomplete closure of the neural tube at about 4 weeks of pregnancy. Levels of early second-trimester maternal serum (ms) alpha-fetoprotein (AFP) are sufficiently elevated in affected pregnancies to be used as a population-based screening test. Read More

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http://dx.doi.org/10.1038/s41436-019-0681-0DOI Listing

A case report of triple neural tube defect: revisiting the multisite closure theory.

BMC Surg 2019 Nov 6;19(1):164. Epub 2019 Nov 6.

Pakistan Institute of Medical Sciences, Islamabad, Pakistan.

Background: Triple neural tube defects are rare. To the author's knowledge, there are only four reported cases available in the literature up to date. Controversies exist with regards to the development of neural tube defects. Read More

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http://dx.doi.org/10.1186/s12893-019-0633-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6836406PMC
November 2019
8 Reads
1.240 Impact Factor

The search for genetic determinants of human neural tube defects.

Curr Opin Pediatr 2019 12;31(6):739-746

Center for Neurogenetics, Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, New York, USA.

Purpose Of Review: An update is presented regarding neural tube defects (NTDs) including spina bifida and anencephaly, which are among the most common serious birth defects world-wide. Decades of research suggest that no single factor is responsible for neurulation failure, but rather NTDs arise from a complex interplay of disrupted gene regulatory networks, environmental influences and epigenetic regulation. A comprehensive understanding of these dynamics is critical to advance NTD research and prevention. Read More

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http://dx.doi.org/10.1097/MOP.0000000000000817DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993899PMC
December 2019
2 Reads

Classifying by cause and preventing the many causes of spina bifida and anencephaly.

Authors:
Godfrey P Oakley

Pediatr Res 2020 01 4;87(2):183-184. Epub 2019 Nov 4.

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

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http://dx.doi.org/10.1038/s41390-019-0658-3DOI Listing
January 2020
1 Read

Cellular mechanisms underlying related neural tube defects and their prevention by folic acid.

Dis Model Mech 2019 11 22;12(11). Epub 2019 Nov 22.

Developmental Biology and Cancer Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK

Neural tube defects (NTDs), including spina bifida and anencephaly, are among the most common birth defects worldwide, but their underlying genetic and cellular causes are not well understood. Some NTDs are preventable by supplemental folic acid. However, despite widespread use of folic acid supplements and implementation of food fortification in many countries, the protective mechanism is unclear. Read More

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http://dx.doi.org/10.1242/dmm.042234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899032PMC
November 2019

Neural tube defect diagnosis and outcomes at a tertiary South African hospital with intensive case ascertainment.

S Afr Med J 2019 Aug 28;109(9):698-703. Epub 2019 Aug 28.

Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Tygerberg Academic Hospital and Stellenbosch University, Cape Town, South Africa.

Background: Neural tube defects (NTDs) are an important category of birth defect, but surveillance remains inadequate in South Africa.

Objectives: To assess the identification of NTDs at a tertiary hospital using a range of prenatal, perinatal and postnatal data sources, and to estimate the impact of prenatal diagnosis and birth prevalence for the referral area.

Methods: Cases of anencephaly, encephalocele and spina bifida (SB) in a 6-year period were retrospectively identified from 5 data sources covering prenatal, perinatal and postnatal care. Read More

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http://dx.doi.org/10.7196/SAMJ.2019.v109i9.13863DOI Listing
August 2019
1 Read

Novel mouse model of encephalocele: post-neurulation origin and relationship to open neural tube defects.

Dis Model Mech 2019 11 14;12(11). Epub 2019 Nov 14.

Newlife Birth Defects Research Centre, UCL GOS Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK

Encephalocele is a clinically important birth defect that can lead to severe disability in childhood and beyond. The embryonic and early fetal pathogenesis of encephalocele is poorly understood and, although usually classified as a 'neural tube defect', there is conflicting evidence on whether encephalocele results from defective neural tube closure or is a post-neurulation defect. It is also unclear whether encephalocele can result from the same causative factors as anencephaly and open spina bifida, or whether it is aetiologically distinct. Read More

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http://dx.doi.org/10.1242/dmm.040683DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899037PMC
November 2019
3 Reads

Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects.

Cells 2019 10 4;8(10). Epub 2019 Oct 4.

Department of Neurosciences, University of Montreal and CHU Sainte Justine Research Center, Montreal, QC H3T1C5, Canada.

Neural tube defects (NTDs), including spina bifida and anencephaly, represent the most severe and common malformations of the central nervous system affecting 0.7-3 per 1000 live births. They result from the failure of neural tube closure during the first few weeks of pregnancy. Read More

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http://dx.doi.org/10.3390/cells8101198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6829399PMC
October 2019
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National population-based estimates for major birth defects, 2010-2014.

Birth Defects Res 2019 11 3;111(18):1420-1435. Epub 2019 Oct 3.

Department of Community and Family Health, College of Public Health, University of South Florida, Tampa, Florida.

Background: Using the National Birth Defects Prevention Network (NBDPN) annual data report, U.S. national prevalence estimates for major birth defects are developed based on birth cohort 2010-2014. Read More

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http://dx.doi.org/10.1002/bdr2.1589DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203968PMC
November 2019
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Concepts in the neurosurgical care of patients with spinal neural tube defects: An embryologic approach.

Birth Defects Res 2019 11 2;111(19):1564-1576. Epub 2019 Oct 2.

University of Wisconsin School of Medicine, Madison, Wisconsin.

Background: The neural tube defects (NTDs) are a heterogeneous group of structural birth defects that arise from a complex array of multiple genetic and environmental factors and adversely affect the structure and function of the brain and spinal cord. Spinal NTDs are clinically more common than cranial NTDs. There remains a significant gap in linking the multiple NTD phenotypes to current genomic understanding. Read More

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http://dx.doi.org/10.1002/bdr2.1588DOI Listing
November 2019
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Cell necrosis, intrinsic apoptosis and senescence contribute to the progression of exencephaly to anencephaly in a mice model of congenital chranioschisis.

Cell Death Dis 2019 09 26;10(10):721. Epub 2019 Sep 26.

Center for Fetal and Placental Research, Cincinnati Children's Hospital Medical Center (CCHMC), Cincinnati, OH, USA.

Exencephaly/anencephaly is one of the leading causes of neonatal mortality and the most extreme open neural tube defect with no current treatments and limited mechanistic understanding. We hypothesized that exencephaly leads to a local neurodegenerative process in the brain exposed to the amniotic fluid as well as diffuse degeneration in other encephalic areas and the spinal cord. To evaluate the consequences of in utero neural tissue exposure, brain and spinal cord samples from E17 exencephalic murine fetuses (maternal intraperitoneal administration of valproic acid at E8) were analyzed and compared to controls and saline-injected shams (n = 11/group). Read More

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http://dx.doi.org/10.1038/s41419-019-1913-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6763477PMC
September 2019
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The prevalence and the reasons of issuing permission for therapeutic abortion in department of forensic medicine, Kermanshah, Iran, during 2005 to 2010.

BMC Res Notes 2019 Sep 13;12(1):574. Epub 2019 Sep 13.

Clinical Research Development Center, Imam Reza Hospital, Kermanshah University of Medical Sciences, Kermanshah, Iran.

Objective: The present study aimed to investigate the prevalence and the reasons of issuing permission for therapeutic abortion in department of forensic medicine, Kermanshah-Iran.

Results: There were a total number of 428 applications for issuing permits. The most common reasons of issuing permit for therapeutic abortion were fetal and maternal problems, specifically cerebral abnormalities (70. Read More

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http://dx.doi.org/10.1186/s13104-019-4622-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6743142PMC
September 2019
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Amniotic Band Syndrome Associated with Exencephaly: A Case Report and Literature Review.

J Pediatr Neurosci 2019 Apr-Jun;14(2):94-96

Division of Pediatric Neurosurgery, Santa Mônica Maternity School (SMMS), Maceió, Alagoas, Brazil.

Amniotic band syndrome (ABS) is a rare congenital disease with variable manifestations ranging from simple constriction rings at the extremities to major defects such as exencephaly. Here we report the case of a female baby born full term (39 weeks) from a 35-year-old primiparous mother by cesarean section. In addition to the constriction rings at the extremities (fingers), the newborn presented facial malformations and a cranial anomaly suggestive of exencephaly. Read More

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http://dx.doi.org/10.4103/jpn.JPN_130_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6712913PMC
September 2019
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Estimation of the preventable proportion of congenital anomalies by selected risk factors in mothers: A case study in Iran.

Med J Islam Repub Iran 2019 15;33:68. Epub 2019 Jul 15.

School of Medicine, Tabriz University of Medical Sciences, Iran.

Worldwide, 1-6 percent of infants have at least one congenital anomaly that can lead to long-term consequences. This may have significant impacts on individuals, families, health-care systems, and societies. The aim of this study was to estimate the Population Attributable Fraction (PAF) of some congenital anomalies by three selected risk factors (obesity, diabetes and smoking) in the northwest of Iran and to estimate the number of preventable defects at birth in the population if we could reduce 50 percent of the exposure rate to these three risk factors at population level. Read More

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http://dx.doi.org/10.34171/mjiri.33.68DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6708091PMC
July 2019
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