4,085 results match your criteria Anencephaly

Maternal plasma levels of vitamin D in postterm pregnancy.

J Obstet Gynaecol 2022 Jun 2:1-5. Epub 2022 Jun 2.

Clinic of Obstetrics and Gynecology, University of Health Sciences, Etlik Zübeyde Hanım Women's Health Training and Research Hospital, Ankara, Turkey.

This study was conducted to examine the levels of vitamin D in postterm pregnancy. The study consisted of two groups: Group 1: women with postterm pregnancy in whom labour has not started ( = 40). Group 2: pregnant women with spontaneous labour between 37 and 41 weeks of gestation ( = 40). Read More

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Birth prevalence of neural tube defects in eastern Africa: a systematic review and meta-analysis.

BMC Neurol 2022 Jun 1;22(1):202. Epub 2022 Jun 1.

Department of Public Health Sciences, Penn State Hershey College of Medicine and Milton S. Hershey Medical Center, Hershey, PA, USA.

Background: Neural tube defects (NTDs) are associated with high rates of neonatal mortality and morbidity worldwide. The promotion of folic acid fortification and supplementation in pregnant women by the Food and Drug Administration significantly decreased the incidence of NTDs in the United States. This practice is not widely adopted in Eastern Africa countries. Read More

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Overview of Neural Tube Defects: Gene-Environment Interactions, Preventative Approaches and Future Perspectives.

Biomedicines 2022 Apr 21;10(5). Epub 2022 Apr 21.

Department of Histology and Embryology, University of Zagreb School of Medicine, 10000 Zagreb, Croatia.

Neural tube defects (NTDs) are the second most common congenital malformations of humans, characterized by impaired development of the central nervous system. Even though the etiology of most birth defects remains undetermined, genetic and environmental risk factors in the background of NTDs have been identified and extensively reported. On top of genetic and nutritional risks which include mutations in both coding and non-coding regions and maternal folate status, respectively, recent years have seen a rise in the identification of a variety of teratogens that could be implicated in NTD development. Read More

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Preventing birth defects, saving lives, and promoting health equity: an urgent call to action for universal mandatory food fortification with folic acid.

Lancet Glob Health 2022 Jul 23;10(7):e1053-e1057. Epub 2022 May 23.

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

July 20, 2021 marked the 30th anniversary of the publication of the landmark trial by the British Medical Research Council showing unequivocally that maternal intake of folic acid (vitamin B) starting before pregnancy prevents most cases of infant spina bifida and anencephaly-two major neural tube defects that are severe, disabling, and often fatal. Mandatory food fortification with folic acid is a safe, cost-effective, and sustainable intervention to prevent spina bifida and anencephaly. Yet few countries implement fortification with folic acid; only a quarter of all preventable spina bifida and anencephaly cases worldwide are currently avoided by food fortification. Read More

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Prenatal diagnosis of acrania/exencephaly/anencephaly sequence (AEAS): additional structural and genetic anomalies.

Arch Gynecol Obstet 2022 May 12. Epub 2022 May 12.

Department of Gynecologic Oncology and Obstetrics, Professor Witold Orlowski Public Teaching Hospital, Warsaw, Poland.

Objectives: To analyse additional structural and genetic anomalies in fetuses with acrania/exencephaly/anencephaly sequence (AEAS).

Methods: A retrospective analysis of 139 fetuses with AEAS diagnosed between 2006 and 2020 in a single tertiary referral ultrasound department.

Results: The median gestational age at diagnosis decreased from 15 weeks in 2006 to 13 weeks in 2020 (- 0. Read More

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Prenatal diagnosis of craniorachischisis totalis.

BMJ Case Rep 2022 Apr 25;15(4). Epub 2022 Apr 25.

Department of Gynecology and Obstetrics, Centro Hospitalar do Médio Ave EPE, Santo Tirso, Portugal.

Craniorachischisis totalis (anencephaly with total open spina bifida) is the most severe form of neural tube defects. The exact aetiology of neural tube defects remains poorly understood. We report a case of a primigravida in her 20s with a fetus in which craniorachischisis totalis was diagnosed during the first-trimester ultrasound at 11 weeks of gestation. Read More

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Trends and influencing factors of perinatal birth defects in Huai'an from 2008 to 2020.

Zhejiang Da Xue Xue Bao Yi Xue Ban 2021 Mar 25;50(7):1-9. Epub 2021 Mar 25.

2. School of Public Health, Zhejiang University School of Medicine, Hangzhou 310058, China.

: To analyze the incidence, trends and related factors of birth defects in Huai'an from 2008 to 2020. : The surveillance data from maternal and child health system of Huai'an from 2008 to 2020 and Huai'an Statistical Yearbook were used for analysis. Taking the annual change percentage and average annual change percentage (AAPC) as the main outcome indicators, the JoinPoint regression analysis was performed to estimate the changing trend of birth defects from 2008 to 2020. Read More

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A suspected case of heterotopic glia in an MM-twin discordant for anencephaly.

Pediatr Int 2022 01;64(1):e15027

Department of Pediatrics, Tokyo Medical and Dental University Hospital, Tokyo, Japan.

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January 2022

A Case of Acalvaria in a Full Term, Live Born Male Infant.

Cureus 2022 Feb 21;14(2):e22430. Epub 2022 Feb 21.

Internal Medicine-Pediatrics, West Virginia University Health System, Morgantown, USA.

Acalvaria is a rare cranial vault defect characterized by the presence of the cerebellum and cerebral cortex with the absence of the calvarium above the orbits, intact facial structures, and the presence of dura mater. Unfortunately, this diagnosis comes with a dim prognosis that is not compatible with life long-term. First-trimester diagnosis with ultrasonography can establish the diagnosis. Read More

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February 2022

Tea consumption during the periconceptional period does not significantly increase the prevalence of neural tube defects: A systematic review and dose-response meta-analysis.

Nutr Res 2022 06 7;102:13-22. Epub 2022 Mar 7.

School of Public Health, Weifang Medical University, Weifang, Shandong 261053, China. Electronic address:

Tea consumption may potentially promote the prevalence of neural tube defects (NTDs) because catechins, the main components of tea polyphenols, can lead to the depletion of bioavailable folate. Many epidemiologic studies have explored the association between tea consumption and NTD risk; however, the findings are inconsistent. This systematic review and meta-analysis investigated the association between tea consumption and NTD. Read More

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Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI.

Hum Genome Var 2022 Mar 31;9(1). Epub 2022 Mar 31.

Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, Nishihara, Okinawa, Japan.

We describe the case of a male patient with orofaciodigital (OFD) syndrome type XVI with a homozygous variant of TMEM107 (p.Phe106del) and the additional findings of tibial dysplasia, which is a pivotal finding of OFD syndrome type IV. His family history included two fetuses with anencephaly with or without cleft lip/palate and polydactyly with no genetic information. Read More

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Rare and severe neural tube defect: Craniorachischisis totalis.

Clin Case Rep 2022 Mar 17;10(3):e05606. Epub 2022 Mar 17.

Tunis Faculty of Medicine University of Tunis El Manar Tunis Tunisia.

Craniorachischisis totalis is an uncommon and severe form of neural tube defect. It is characterized by anencephaly and spina bifida throughout the vertebral column accompanied by herniation of neural tissue and meninges. Hepatic calcification in the fetus is rare and its clinical significance is not fully established. Read More

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[Craniorachischisis: a case report].

Rev Med Inst Mex Seguro Soc 2022 Feb 1;60(1):80-84. Epub 2022 Feb 1.

Instituto Mexicano del Seguro Social, Hospital General Regional No. 1, Departamento de Ginecología y Obstetricia. Mérida, Yucatán, México.

Background: Neural tube defects are a heterogeneous group of alterations of the central nervous system with multifactorial origin, mainly caused by a failure in the mechanisms of closure of the neural tube which involves skin, paravertebral muscles, connective tissue, bone and spinal cord.

Clinical Case: 36-year-old woman with a pregnancy of 25.3 weeks, corroborated by second trimester ultrasound. Read More

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February 2022

Maternal hereditary hemolytic anemia and birth defects in the National Birth Defects Prevention Study.

Birth Defects Res 2022 05 5;114(8):295-303. Epub 2022 Mar 5.

Birth Defects Registry, New York State Department of Health, Albany, New York, USA.

Objectives: Hereditary hemolytic anemia (HHA) results from genetic mutations that cause red blood cell abnormalities. Little research exists on the relationship between HHA and birth defects. Using data from the National Birth Defects Prevention Study (NBDPS), we described characteristics of HHA-exposed women and estimated associations between HHA during pregnancy and specific birth defects. Read More

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Prevalence and patterns of birth defects among newborns in southwestern Ethiopia: a retrospective study.

Pan Afr Med J 2021 21;40:248. Epub 2021 Dec 21.

School of Medical Laboratory Sciences, Institute of Health, Jimma University, Jimma, Ethiopia.

Introduction: prenatal development could be considered normal or abnormal. Abnormal development occurs because of interference of normal development from genetic disorders, environmental factors, and multifactorial inheritances during the critical period of embryogenesis. The present study was aimed at evaluating the prevalence and patterns of birth defects among newborns in southwestern Ethiopia. Read More

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A Revised Moral Appraisal of Early Induction of Labor in Cases of Anencephaly.

John Holmes

HEC Forum 2022 Feb 25. Epub 2022 Feb 25.

Ethics Educator, Mission Services, PeaceHealth, Vancouver, WA, USA.

The central concern of this article is whether early induction of labor for an anencephalic fetus can ever be morally justified, particularly by a Catholic healthcare ethics committee. By revisiting and refining arguments in articles by Drane (1992) and Bole (1992) published in this journal, a revised argument - consistent with the Catholic moral tradition - can seemingly be constructed that a Catholic healthcare ethics committee might use to justify early induction of labor in some pregnancies involving an anencephalic fetus. Such a revised argument depends upon two central claims; first, that the anencephalic fetus in question is necessarily in the process of dying when early induction of labor occurs, and second, that the fetus is judged to be undergoing extraordinary or disproportionate means of preserving their life as a result of receiving ongoing maternal support of a mother's womb. Read More

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February 2022

Trend and burden of neural tube defects among cohort of pregnant women in Ethiopia: Where are we in the prevention and what is the way forward?

PLoS One 2022 18;17(2):e0264005. Epub 2022 Feb 18.

Department of Nutrition and Dietetics, Faculty of Public Health, Institute of Health Science, Jimma University, Jimma, Ethiopia.

Introduction: Neural tube defect is one of the top five most serious birth defects in the world. In Ethiopia an accurate estimate of the trend and burden of neural tube defects is still unknown. There hasn't been much research done on the prevalence and trend of neural tube defects in Eastern Ethiopia. Read More

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MicroRNA-22: a Novel and Potent Biological Therapeutics in Neurological Disorders.

Mol Neurobiol 2022 May 14;59(5):2694-2701. Epub 2022 Feb 14.

Department of Anatomy and Cell Biology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

MicroRNAs (miRs) are regulatory RNAs with 18-25 nucleotides lengths involved in various biological processes. Some miRs, including miR-22, play an essential role in regulating neurological disorders. MiR-22 is a brain-enriched regulatory element involved in angiogenesis, energy supply, adjustment of ionic channels, and suppression of malignant cell proliferation, migration, and invasion. Read More

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Prevalence of neural tube defects at Debre Berhan Referral Hospital, North Shewa, Ethiopia. A hospital based retrospective cross-section study.

PLoS One 2022 2;17(2):e0261177. Epub 2022 Feb 2.

Department of Anatomy, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.

Background: Neural tube defect (NTD) is a structural defect of the central nervous system of the developing embryo during the first month of developmental process. Most congenital malformations are potentially preventable cause of perinatal morbidity and mortality. Worldwide, around 10% of infant mortalities are due to nervous system defects. Read More

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Periconceptional folic acid use prevents both rare and common neural tube defects in China.

Birth Defects Res 2022 03 31;114(5-6):184-196. Epub 2022 Jan 31.

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.

Background: Neural tube defects (NTDs) encompass a variety of distinct types. We assessed if the preventive effect of folic acid (FA) varied by NTD type and infant sex.

Methods: We examined all pregnancies with NTD status confirmation from a pregnancy-monitoring system in selected locations in northern and southern regions of China between 1993 and 1996. Read More

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Gangliosides as Biomarkers of Human Brain Diseases: Trends in Discovery and Characterization by High-Performance Mass Spectrometry.

Int J Mol Sci 2022 Jan 8;23(2). Epub 2022 Jan 8.

Department of Condensed Matter, National Institute for Research and Development in Electrochemistry and Condensed Matter, Plautius Andronescu Str. 1, 300224 Timisoara, Romania.

Gangliosides are effective biochemical markers of brain pathologies, being also in the focus of research as potential therapeutic targets. Accurate brain ganglioside mapping is an essential requirement for correlating the specificity of their composition with a certain pathological state and establishing a well-defined set of biomarkers. Among all bioanalytical methods conceived for this purpose, mass spectrometry (MS) has developed into one of the most valuable, due to the wealth and consistency of structural information provided. Read More

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January 2022

Microtubular TRIM36 E3 Ubiquitin Ligase in Embryonic Development and Spermatogenesis.

Cells 2022 01 12;11(2). Epub 2022 Jan 12.

Department of Life Sciences, University of Trieste, 34127 Trieste, Italy.

TRIM36 is a member of the tripartite motif (TRIM) family of RING-containing proteins, also known as Haprin, which was first discovered for its abundance in testis and found to be implicated in the spermatozoa acrosome reaction. TRIM36 is a microtubule-associated E3 ubiquitin ligase that plays a role in cytoskeletal organization, and according to data gathered in different species, coordinates growth speed and stability, acting on the microtubules' plus end, and impacting on cell cycle progression. TRIM36 is also crucial for early developmental processes, in , where it is needed for dorso-ventral axis formation, but also in humans as bi-allelic mutations in the TRIM36 gene cause a form of severe neural tube closure defect, called anencephaly. Read More

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January 2022

Vaginal development during 2nd gestational trimester: translational study in human female fetuses with disorders of the neural tube.

Arch Gynecol Obstet 2022 Jan 20. Epub 2022 Jan 20.

Urogenital Research Unit, State University of Rio de Janeiro, 104/201, Tijuca, Rio de Janeiro, RJ, Brazil.

Purpose: One of the most common malformations of the central nervous system is related to embryonic neural tube alterations. We hypothesized that anencephaly affects the development of the vagina during the human second trimester of pregnancy. Our study compared the biometric parameters of the vagina in human female fetuses with neural tube defects. Read More

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January 2022

Comparison of prenatal central nervous system abnormalities with postmortem findings in fetuses following termination of pregnancy and clinical utility of postmortem examination.

J Perinat Med 2021 Dec 31. Epub 2021 Dec 31.

Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Istanbul University, Cerrahpasa Medical School, Istanbul, Turkey.

Objectives: In this study, we aimed to compare prenatal ultrasound (USG) and postmortem examination findings of central nervous system (CNS) abnormalities in fetuses following termination of pregnancy (TOP).

Methods: A total of 190 fetuses with USG-confirmed fetal CNS abnormalities of terminated pregnancies between January 2001 and January 2017 were retrospectively analyzed and USG and postmortem examination findings were compared.

Results: The most frequent CNS abnormalities were acrania/anencephaly (n=45, 24%), spina bifida (n=43, 23%), and ventriculomegaly (n=35, 18%). Read More

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December 2021

Prevalence of anencephaly in Africa: a systematic review and meta-analysis.

Sci Rep 2021 12 9;11(1):23707. Epub 2021 Dec 9.

Department of Internal Medicine, School of Medicine, College of Medicine and Health Sciences, University of Gondar, Gondar, Amhara, Ethiopia.

Anencephaly is a severe anomaly of the brain that results from the failure of the cephalic part of the neural tube to close during the fourth week. It occurs at least in one per thousand births and is the major cause of fetal loss and disabilities in newborns. The objective of this review is to determine the birth prevalence of anencephaly in Africa. Read More

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December 2021

Thorium and fetal neural tube defects: an epidemiological evidence from large case-control study.

Genes Environ 2021 Nov 25;43(1):51. Epub 2021 Nov 25.

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, P. R. China.

Background: Thorium is ubiquitous in the environment and its relationship with birth defects is still under discussion. This study aimed to investigate the associations of maternal exposure to thorium with risk of neural tube defects (NTDs) by using a case-control study, as well as the relationship between thorium exposure and the indoor air pollution from coal combustion.

Methods: This study was conducted in 11 local healthcare hospitals during 2003-2007 in Shanxi and Hebei provinces, China. Read More

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November 2021

Prevalence of neural tube defects, maternal HIV status, and antiretroviral therapy from a hospital-based birth defect surveillance in Kampala, Uganda.

Birth Defects Res 2022 02 11;114(3-4):95-104. Epub 2021 Nov 11.

Makerere University-Johns Hopkins University Research Collaboration (MUJHU), Kampala, Uganda.

Background: The estimated prevalence of neural tube defects (NTDs) in Africa is 11.7 per 10,000 live births; however, data on the impact of antiretroviral therapy (ART) during pregnancy and the risk for birth defects in Africa are limited.

Methods: Data from a hospital-based surveillance program at four hospitals in Kampala, Uganda were used to estimate the baseline prevalence of NTDs and assess potential associations with HIV status and ART use. Read More

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February 2022

Risk Factors of Anencephaly: A Case-Control Study in Dessie Town, North East Ethiopia.

Pediatric Health Med Ther 2021 29;12:499-506. Epub 2021 Oct 29.

Department of Radiography, Dessie Health Science College, Dessie, Ethiopia.

Introduction: Anencephaly is a form of neural tube defect, which develops when the cranial neuropore is unable to close. It is one of the fatal anomalies of the neural tube. Although most of the causes of anencephaly are unknown, multiple risk factors are associated with this defect. Read More

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October 2021

Unraveling the complex genetics of neural tube defects: From biological models to human genomics and back.

Genesis 2021 11 29;59(11):e23459. Epub 2021 Oct 29.

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

Neural tube defects (NTDs) are a classic example of preventable birth defects for which there is a proven-effective intervention, folic acid (FA); however, further methods of prevention remain unrealized. In the decades following implementation of FA nutritional fortification programs throughout at least 87 nations, it has become apparent that not all NTDs can be prevented by FA. In the United States, FA fortification only reduced NTD rates by 28-35% (Williams et al. Read More

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November 2021

A silent epidemic of major congenital malformations in Tigray, northern Ethiopia: hospital-based study.

Sci Rep 2021 10 26;11(1):21035. Epub 2021 Oct 26.

College of Health Sciences, School of Public Health, Department of Nutrition and Dietetics, Mekelle University, Mekelle, Ethiopia.

Congenital malformations are defects of the morphogenesis of organs or body during the pregnancy period and are identifiable at pre- or postnatal. They are identified as the major cause of child mortality worldwide. There is a need to understand the prevalence of congenital malformations in Tigray and Ethiopia in general as surveillance data are lacking. Read More

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October 2021