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Concept: Spina bifida

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During the last decade critical new information has been published pertaining to folic acid supplementation in the prevention of neural tube defects (NTDs) and other folic acid-sensitive congenital malformations. These new data have important implications for women, their families and health care professionals. We performed a review looking for the optimal dosage of folic acid which should be given to women of reproductive age who are planning or not avoiding conception to propose updated guidelines and thus help health care providers and patients. In addition to fortification of dietary staples with folic acid, women of reproductive age should supplement before conception with 0.4-1.0 mg of folic acid daily as part of their multivitamins. In the United State, all enriched rice is also fortified with folic acid at 0.7 mg per pound of raw rice. However, this is not the case in many countries, and it has been estimated that only 1% of industrially milled rice is fortified with folic acid. In countries where rice is the main staple (e.g. China), this does not allow effective folate fortification. While the incidence of NTD is around 1/1000 in the USA, it is 3-5 fold higher in Northern China, and 3 fold higher in India. A recent population-based US study estimated that the reduction in NTDs rates by folic acid is more modest than previously predicted. The potential of NTD prevention by folic acid acid is underutilized due to low adherence with folic acid supplementation, and calls for revising the policy of supplementation has been raised. We identified groups of women of reproductive age who may benefit from higher daily doses of folic acid and this should be considered in current practice. These include women who have had previous pregnancies with NTDs, those who did not plan their pregnancy and hence did not supplement, and women with low intake or impaired adherence to daily folic acid supplementation. In addition, women with known genetic variations in the folate metabolic cycle, those exposed to medications with antifolate effects, smokers, diabetics and the obese, may benefit from higher doses of folic acid daily during the first trimester. This article is protected by copyright. All rights reserved.

Concepts: Health care, Health care provider, Pregnancy, Folic acid, Rice, Spina bifida, Neural tube defect, Congenital disorders

60

What are the long term trends in the total (live births, fetal deaths, and terminations of pregnancy for fetal anomaly) and live birth prevalence of neural tube defects (NTD) in Europe, where many countries have issued recommendations for folic acid supplementation but a policy for mandatory folic acid fortification of food does not exist?

Concepts: Pregnancy, Demography, Obstetrics, Abortion, Folic acid, Gestational age, Spina bifida, Live birth

46

In 1991, the Medical Research Council (MRC) Vitamin Study demonstrated that folic acid taken before pregnancy and in early pregnancy reduced the risk of a neural tube defect (NTD). We aimed to estimate the number of NTD pregnancies that would have been prevented if flour had been fortified with folic acid in the UK from 1998 as it had been in the USA.

Concepts: European Union, United States, Obstetrics, Folic acid, Spina bifida, Neural tube defect, Anencephaly, United Nations Security Council

41

Intrapericardial teratoma is a rare, lethal tumor often detected in fetal life. Tumor mass and pericardial effusion cause cardiac tamponade, which if relieved, could be life-saving. Optimal timing of intervention and methods for effective fetal treatment are unknown.

Concepts: Surgery, Benign tumor, Pericardium, Cardiac tamponade, Nature, Pericardial effusion, Spina bifida, In Utero

29

In this study we prospectively investigated the contribution of restored penile sensation to sexual health in patients with low spinal lesions.

Concepts: Spinal cord, Sexual intercourse, Spinal cord injury, Penis, Spina bifida, Sex education

29

Spina bifida myelomeningocele (SBM) is a neural tube defect that has been related to deficits in several cognitive domains including attention. Attention function in children with SBM has often been studied using tasks that are confounded by complex motor demands or tasks that do not clearly distinguish perceptual from response-related components of attention. We used a verbal-report paradigm based on the Theory of Visual Attention ( Bundesen, 1990 ) and a new continuous performance test, the Dual Attention to Response Task ( Dockree et al., 2006 ), for measuring parameters of selective and sustained attention in 6 children with SBM and 18 healthy control children. The two tasks had minimal motor demands, were functionally specific and were sensitive to minor deficits. As a group, the children with SBM were significantly less efficient at filtering out irrelevant stimuli. Moreover, they exhibited frequent failures of sustained attention and response control in terms of omission errors, premature responses, and prolonged inhibition responses. All 6 children with SBM showed deficits in one or more parameters of attention; for example, three patients had elevated visual perception thresholds, but large individual variation was evident in their performance patterns, which highlights the relevance of an effective case-based assessment method in this patient group. Overall, the study demonstrates the strengths of a new testing approach for evaluating attention function in children with SBM.

Concepts: Spina bifida

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Objective: Recent progresses in fetal surgery have raised concern on fetal pain, its long-term consequences and the risks of sudden fetal movements induced by pain. In several studies, surgeons have directly administered opioids to the fetus, while others have considered sufficient the maternally administered analgesics. We performed a review of the literature to assess the state of the art. Methods: We performed a PubMed search to retrieve the papers that in the last 10 years reported studies of human fetal surgery and that described whether any fetal analgesia was administered. Results: We retrieved 34 papers. In three papers, the procedure did not hurt the fetus, being performed on fetal annexes, in two papers, it was performed in the first half of pregnancy, when pain perception is unlikely. In 10 of the 29 remaining papers, fetal surgery was performed using direct fetal analgesia, while in 19, analgesia was administered only to the mother. In most cases, fetal direct analgesia was obtained using i.m. opioids, and muscle relaxant. Rare drawbacks on either fetuses or mothers due to fetal analgesia were reported. Conclusion: Fetal direct analgesia is performed only in a minority of cases and no study gives details about fetal reactions to pain. More research is needed to assess or exclude its possible long-term drawbacks, as well as the actual consequences of pain during surgery.

Concepts: Pregnancy, Embryo, Fetus, Uterus, Surgery, Pain, Abortion, Spina bifida

28

In September 2009, Australia implemented mandatory folic acid fortification of wheat flour for bread-making to reduce the incidence of neural tube defects. Our study aimed to establish baseline folate status data in Aboriginal and non-Aboriginal Western Australians.

Concepts: Wheat, Folic acid, Folate deficiency, Glutamic acid, Flour, Spina bifida, Neural tube defect, Anencephaly

28

Object After untethering of spinal dysraphism, some patients present with neurological deterioration, defined as retethered cord syndrome. It is known that surgical untethering is an option for improving the symptoms of retethered cord syndrome. Previous reports have shown that postoperative improvement in retethered cord syndrome was noted in the majority of patients presenting with pain, and in more patients with motor weakness than in those with urological symptoms. The authors speculate that subjective symptoms may be detected while symptoms are still reversible. In contrast, changes in urological function are less easy to diagnose, and delays in treatment may be complicated by advanced symptoms. In this study, patients with retethered cord syndrome were evaluated to investigate the benefits of performing routine urodynamic study to detect detrusor overactivity, which is considered to be a subclinical change of urological function, and to investigate the efficacy of early untethering surgery on the symptoms of retethered cord syndrome. Methods Surgical indications and outcomes of 78 untethering operations (20 for myelomeningocele, 58 for spinal lipoma) for retethered cord syndrome were examined. Diagnosis of retethered cord syndrome was defined by a multidisciplinary spina bifida team, and included routine urodynamic study. Results Preoperative symptoms included urological symptoms (70%), lower-extremity symptoms (45%), and others. The most frequent urological symptom was detrusor overactivity detected by urodynamic study (88.7%). Urinary incontinence was only found in 9.4% of patients. Postoperatively, progressive motor weakness improved in all patients, and sensory symptoms improved in 94%. Urological symptoms improved in 80% of the patients with urinary incontinence and in 75% of the patients with detrusor overactivity. Postoperative urodynamic study showed a significant increase in bladder volume (p < 0.05). The most common complication was temporary lower leg paresthesia that recovered at follow-up. Aggravated dysuria was noted in 3 patients. Conclusions Early untethering operations offer symptomatic relief to patients with retethered cord syndrome. Urodynamic study findings, especially detrusor overactivity, are considered to be the most significant indicators for early diagnosis of retethered cord syndrome.

Concepts: Better, Medical terms, Urinary incontinence, Symptoms, Urinary bladder, Spina bifida

28

To examine whether in utero exposure to mercury (Hg), cadmium (Cd), lead (Pb) and arsenic (As) is associated with an elevated neural tube defects (NTDs) risk, placental concentrations of total Hg, Cd, Pb and As were measured with an inductively coupled plasma mass spectrometer (ICP-MS) in 36 anencephaly and 44 spina bifida cases as well as in 50 healthy controls. The median Hg concentration in the NTD cases (2.25ng/g) was higher than that of the controls (1.16ng/g). The odds ratio (OR) for an Hg concentration above the median was 8.80 (95% CI, 3.80-20.36) for the NTD cases. NTD risks increased for the second and third high levels of the concentrations, with ORs of 2.70 (95% CI, 1.13-6.43) and 18.20 (95% CI, 5.45-60.73), respectively. Therefore, higher placental levels of Hg are associated with an elevated risk of NTDs.

Concepts: Mercury, Silver, Neural tube, Occupational safety and health, Chemical elements, Spina bifida, Neural tube defect, Anencephaly