Anencephaly Publications (3813)

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Anencephaly Publications

2017Jan
Hum. Mol. Genet.
Hum Mol Genet 2017 Jan 13. Epub 2017 Jan 13.
Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore 560012, India.

Anencephaly is characterized by the absence of brain tissues and cranium. During primary neurulation stage of the embryo, the rostral part of the neural pore fails to close, leading to anencephaly. Anencephaly shows a heterogeneous etiology, ranging from environmental to genetic causes. Read More

The autosomal recessive inheritance of anencephaly has been reported in several populations. In this study, we employed whole-exome sequencing and identified a homozygous missense mutation c.1522C>A (p.Pro508Thr) in the TRIM36 gene as the cause of autosomal recessive anencephaly (APH) in an Indian family. The TRIM36 gene is expressed in the developing brain, suggesting a role in neurogenesis. In silco analysis showed that proline at codon position 508 is highly conserved in 26 vertebrate species, and the mutation is predicted to affect the conformation of the B30.2/SPRY domain of TRIM36. Both in vitro and in vivo results showed that the mutation renders the TRIM36 protein less stable. TRIM36 is known to associate with microtubules. Transient expression of the mutant TRIM36 in HeLa and LN229 cells resulted in microtubule disruption, disorganized spindles, loosely arranged chromosomes, multiple spindles, abnormal cytokinesis, reduced cell proliferation and increased apoptosis as compared to cells transfected with its wild-type counterpart. The siRNA knock down of TRIM36 in HeLa and LN229 cells also led to reduced cell proliferation and increased apoptosis. We suggest that microtubule disruption and disorganized spindles mediated by mutant TRIM36 affect neural cell proliferation during neural tube formation, leading to anencephaly.

2016Jan
Case Rep Neurol Med
Case Rep Neurol Med 2016 6;2016:8918954. Epub 2016 Dec 6.
Department of Pediatrics, Kilimanjaro Christian Medical Centre, Moshi, Tanzania; Department of Internal Medicine, Kilimanjaro Christian Medical Centre, Moshi, Tanzania; Radboud University Medical Centre, Nijmegen, Netherlands.

Neural tube defects result from failure of neural tube fusion during early embryogenesis, the fourth week after conception. The spectrum of severity is not uniform across the various forms of this congenital anomaly as certain presentations are not compatible with extrauterine life (anencephaly) while, on the other hand, other defects may remain undiagnosed as they are entirely asymptomatic (occult spina bifida). We report a child with previously normal neurological development, a devastating clinical course following superinfection of a subtle spina bifida defect which resulted in a flaccid paralysis below the level of the lesion and permanent neurological deficits following resolution of the acute infection and a back closure surgery. Read More

2016Oct
Reprod. Toxicol.
Reprod Toxicol 2016 Oct 29. Epub 2016 Oct 29.
Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, PR China; Institute of Reproductive and Child Health, Peking University Health Science Center, Beijing 100191, PR China.
2016Dec
Birth Defects Res. Part A Clin. Mol. Teratol.
Birth Defects Res A Clin Mol Teratol 2016 Dec 5. Epub 2016 Dec 5.
Institute of Reproductive and Child Health, Peking University/ Key Laboratory of Reproductive Health, National Health and Family Planning Commission of the People's Republic of China, Beijing, P.R. China.

The relationship between essential trace metals (ETMs) and the risk of neural tube defects (NTDs) is still unclear. One of the challenges is to evaluate the intake of ETMs of women during their early period of pregnancy. We proposed the hypothesis that an ETM deficiency in women during their early period of pregnancy is associated with an elevated risk of NTDs in offspring. Read More


We recruited 191 women with NTD-affected pregnancies (case group) and 261 women who delivered healthy infants (control group). Nine ETMs in hair sections grown during maternal early pregnancy were analyzed: iron (Fe), zinc (Zn), copper (Cu), cobalt (Co), manganese (Mn), chromium (Cr), nickel (Ni), molybdenum (Mo), and stannum (Sn). Information on maternal dietary habits were collected by questionnaire.
We observed a significant decreasing trend in the dose-response relationships between the Ni and Mo concentrations in hair and NTD risks. A Zn deficiency was only associated with an elevated risk of spina bifida, and a Sn deficiency was only associated with anencephaly. The Ni and Zn concentrations in hair were positively correlated with the frequency of consumption of fresh green vegetables and fresh fruits, while the Zn concentration was also associated with fish or meat consumption.
We concluded that maternal intakes of the four ETMs (Ni, Mo, Zn, and Sn) played an important role in the formation of NTDs in our study population, and that this intake is related to maternal dietary habits.Birth Defects Research (Part A), 2016.© 2016 Wiley Periodicals, Inc.

2016Dec
J Med Case Rep
J Med Case Rep 2016 Dec 3;10(1):345. Epub 2016 Dec 3.
General Medicine, Faculty of Medicine and Biomedical Sciences, University of Yaounde 1, Yaounde, Republic of Cameroon.

There has been a recent increase in the number of newborns with brain malformations due to congenital infections, but the impact of these diseases remains largely under ascertained in middle-income and low-income countries. This case report presents a fetal anencephaly following maternal toxoplasma and rubella co-infection in a resource-limited setting and the challenges faced by the patient and the health care provider in the management of the condition.
A 25-year-old black Cameroonian woman of Bakossi origin, gravida3 para1010, presented with a positive rubella and toxoplasma immunoglobulin G serologic test at 21 weeks of pregnancy; she could not benefit from a fetal morphologic ultrasound partly because there was none at the site of her antenatal clinic and because there were accessibility constraints getting to the nearest referral hospital approximately 100 km away. Read More

She returned to the hospital in labor pains 14 weeks later and, upon examination, she was observed to be at almost full cervical dilatation and had a stillbirth a few minutes later; a baby boy weighing 1600 g with anencephaly. The devastated parents of the baby were counseled and given psychological support. She was discharged from hospital 3 days later and now benefits from continual follow up as out-patient. She was advised to consult a gynecologist-obstetrician before her next pregnancy.
Much attention still has to be paid to ameliorate the health care in resource-limited settings where pregnant women generally obtain less than adequate care.

2016Dec
Birth Defects Res. Part A Clin. Mol. Teratol.
Birth Defects Res A Clin Mol Teratol 2016 Dec 1. Epub 2016 Dec 1.
Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia.

The United States Public Health Service recommends that all women of reproductive age consume 400 μg of folic acid daily to prevent major neural tube defects. Hispanics have the highest prevalence of neural tube defects compared with other race/ethnic groups. We studied prevalence of preconception folic acid supplement use, and its association with race/ethnicity among pregnant women in Georgia. Read More


Using state-wide population-based data from 2009 to 2011 Georgia Pregnancy Risk Assessment Monitoring System, we examined the prevalence of preconception folic acid supplement use among pregnant women aged 18 to 45 years. We conducted multivariable logistic regression and estimated adjusted odds ratios and 95% confidence intervals to examine the association between race/ethnicity and supplemental folic acid use among study participants.
Overall, 25% of all participants reported taking folic acid supplements daily before conception. Only 21% of Hispanic women reported preconception folic acid supplement use. Hispanic women were twice as likely to not take folic acid supplements (adjusted odds ratio = 2.15; 95% confidence interval, 1.35-3.40) compared with non-Hispanic whites, after controlling for maternal age, parity, pregnancy intention, knowledge that folic acid prevents birth defects, and preconception smoking and exercise.
Hispanics are a growing population in the United States with an expected 14 million women of child-bearing age by 2020, and the prevalence of preconception folic acid supplement use is low in this group with a high risk of neural tube defects. Promotion of voluntarily fortified corn masa flour can lower neural tube defects in Hispanics. Mandatory corn masa fortification will be a more effective public health policy.Birth Defects Research (Part A), 2016.© 2016 Wiley Periodicals, Inc.

2016Nov
Birth Defects Res. Part A Clin. Mol. Teratol.
Birth Defects Res A Clin Mol Teratol 2016 Nov;106(11):875-880
College of Public Health, University of South Florida, Tampa, Florida.

Once a woman has had a fetus or infant affected with a neural tube defect (NTD), the risk of recurrence is approximately 3%. This risk can be significantly reduced by folic acid supplement consumption during the periconceptional period; however, this requires women at risk to be adequately informed about the appropriate dosage and timing of supplement intake before planning another pregnancy. As birth defects surveillance programs are tasked with identifying and documenting NTD-affected pregnancies and births, they are in a unique position to support recurrence prevention activities. Read More


In 2015, we surveyed state and provincial birth defects surveillance programs to assess their NTD recurrence prevention activities. The online survey was sent to programs in 52 United States (U.S.) jurisdictions and all 13 provinces and territories in Canada. Findings were compared with a similar survey conducted in 2005 among U.S. programs.
In 2015, of the 44 U.S. and Canadian surveillance programs that responded, only 9 programs (7 U.S. and 2 Canadian) reported currently having activities specifically directed toward preventing NTD recurrence. Compared with a 2005 survey of U.S. programs, the number of U.S. programs working on NTD recurrence prevention decreased by almost 50% (from 13 to 7 programs).
The number of birth defects surveillance programs with NTD recurrence prevention activities has decreased over the past decade due to a range of barriers, most notably a lack of resources. However, while some recurrence prevention activities require part-time staff, other activities could be accomplished using minimal resources. Birth Defects Research (Part A) 106:875-880, 2016.© 2016 Wiley Periodicals, Inc.

2016Nov
Birth Defects Res. Part A Clin. Mol. Teratol.
Birth Defects Res A Clin Mol Teratol 2016 Nov 24. Epub 2016 Nov 24.
Dell Pediatric Research Institute, Department of Nutritional Sciences, The University of Texas at Austin, Austin, Texas.

Structural birth defects are a leading cause of mortality and morbidity in children world-wide, affecting as much as 6% of all live births. Among these conditions, neural tube defects (NTDs), including spina bifida and anencephaly, arise from a combination of complex gene and environment interactions that are as yet poorly understood within human populations. Rapid advances in massively parallel DNA sequencing and bioinformatics allow for analyses of the entire genome beyond the 2% of the genomic sequence covering protein coding regions. Read More

Efforts to collect and analyze these large datasets hold promise for illuminating gene network variations and eventually epigenetic events that increase individual risk for failure to close the neural tube. In this review, we discuss current challenges for DNA genome sequence analysis of NTD affected populations, and compare experience in the field with other complex genetic disorders for which large datasets are accumulating. The ultimate goal of this research is to find strategies for optimizing conditions that promote healthy birth outcomes for individual couples. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc.

2016Nov
BMC Res Notes
BMC Res Notes 2016 Nov 24;9(1):495. Epub 2016 Nov 24.
Academy of Medical Science and Technology, Khartoum, Sudan.

Neural tube defects (NTDs) are birth defects that results from failure of the neural tube to develop properly during early pregnancy.
We studied the prevalence of neural tube defects in newborns admitted to the NICU in Soba University and Omdurman Maternity hospitals, during the period 1st August 2014 to 31st July 2015. A cross-sectional hospital based study, involved all newborns with any type of neural tube defect admitted to the NICU in the study area during the study period. Read More

Data was collected using a questionnaire reviewing the medical, social history and clinical examination.
Out of the 36,785 delivered newborns during the study period, the prevalence of NTDs was 2.8:1000. Females were 56 (54.4%) predominated males 47 (45.6%). History of neural tube defects was found in 11 (10.7%) of the affected newborns siblings. Sixty-eight (66%) of the studied mothers received folic acid during pregnancy with the current child, of those who received folic acid 66 (97.1%) started folic acid after conception, 36 (54.5%) in the first trimester and 39 (57.4%) had no regular intake of the folic acid. The types of NTDs include myelomeningocele 49 (47.6%), anencephaly 18 (17.5%), encephalocele 14 (13.6%), myelomeningocele and hydrocephalus 11 (10.7%) and meningocele 8 (7.8%).
The prevalence of neural tube defects is 2.8:1000. Myelomeningocele is the commonest encountered NTD. The use of preconception folic acid needs to be advocated.