Anencephaly Publications (3813)
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.
Metal concentrations in maternal hair were measured by inductively coupled plasma-mass spectrometry. The adjusted odds ratio (AOR) of Ti concentration above the median were 1.46 (95% confidence interval (CI), 0.99-2.13) for total NTDs and 2.10 (95% CI, 1.12-3.94) for anencephaly, while OR of silver wasn't statistically significnat. Titanium concentration was positively correlated with consumptions of vegetables and fruits. Maternal exposure to Titanium during the periconception period was associated with an increased NTD risk in offspring, which may be partly mediated through maternal dietary habits.
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.
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.
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.
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.
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.
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.