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JAMA Aug 2023Neural tube defects are among the most common birth defects in the US.
IMPORTANCE
Neural tube defects are among the most common birth defects in the US.
OBJECTIVE
To review new evidence on the benefits and harms of folic acid supplementation for the prevention of neural tube defects to inform the US Preventive Services Task Force.
EVIDENCE REVIEW
Sources included PubMed, Cochrane Library, Embase, and trial registries from July 1, 2015, through July 2, 2021; references; and experts, with surveillance through February 10, 2023. Two investigators independently reviewed English-language randomized studies and nonrandomized cohort studies in very highly developed countries that focused on the use of folic acid supplementation for the prevention of neural tube defect-affected pregnancies; methodological quality was dually and independently assessed.
FINDINGS
Twelve observational studies (reported in 13 publications) were eligible for this limited update (N = 1 244 072). Of these, 3 studies (n = 990 372) reported on the effect of folic acid supplementation on neural tube defects. For harms, 9 studies were eligible: 1 randomized clinical trial (n = 431) reported on variations in twin delivery, 7 observational studies (n = 761 125) reported on the incidence of autism spectrum disorder, and 1 observational study (n = 429 004) reported on maternal cancer. Two cohort studies and 1 case-control study newly identified in this update reported on the association between folic acid supplementation and neural tube defects (n = 990 372). One cohort study reported a statistically significant reduced risk of neural tube defects associated with folic acid supplementation taken before pregnancy (adjusted relative risk [aRR], 0.54 [95% CI, 0.31-0.91]), during pregnancy (aRR, 0.62 [95% CI, 0.39-0.97]), and before and during pregnancy (aRR, 0.49 [95% CI, 0.29-0.83]), but this association occurred for only the later of 2 periods studied (2006-2013 and not 1999-2005). No other statistically significant benefits were reported overall. No study reported statistically significant harms (multiple gestation, autism, and maternal cancer) associated with pregnancy-related folic acid exposure.
CONCLUSIONS AND RELEVANCE
New evidence from observational studies provided additional evidence of the benefit of folic acid supplementation for preventing neural tube defects and no evidence of harms related to multiple gestation, autism, or maternal cancer. The new evidence was consistent with previously reviewed evidence on benefits and harms.
Topics: Female; Humans; Pregnancy; Autism Spectrum Disorder; Dietary Supplements; Folic Acid; Neural Tube Defects; Randomized Controlled Trials as Topic; Pregnancy Complications; Risk; Preconception Care; Prenatal Care
PubMed: 37526714
DOI: 10.1001/jama.2023.9864 -
American Journal of Obstetrics and... Dec 2020
Review
Topics: Abortion, Induced; Amniotic Band Syndrome; Anencephaly; Bone Diseases, Developmental; Diagnosis, Differential; Digestive System Abnormalities; Female; Heart Defects, Congenital; Hernias, Diaphragmatic, Congenital; Humans; Karyotyping; Kidney; Microarray Analysis; Microcephaly; Neural Tube Defects; Palliative Care; Pregnancy; Severity of Illness Index; Spina Bifida Cystica; Triploidy; Trisomy; Ultrasonography, Prenatal
PubMed: 33168213
DOI: 10.1016/j.ajog.2020.08.176 -
Seminars in Pediatric Surgery Aug 2019Myelomeningocele is a congenital malformation that causes a spectrum of morbidity. With the standard of care now being in utero repair, the spectrum of morbidity has... (Review)
Review
Myelomeningocele is a congenital malformation that causes a spectrum of morbidity. With the standard of care now being in utero repair, the spectrum of morbidity has changed. The purpose of this article is to review the diagnosis, workup and treatment options of fetal myelomeningocele. We also review the obstetrical, neurological, gastrointestinal, urinary, and orthopedic outcomes of the in utero myelomeningocele repair.
Topics: Arnold-Chiari Malformation; Child Development; Constipation; Female; Fetoscopy; Humans; Hydrocephalus; Hysterotomy; Infant; Infant, Newborn; Magnetic Resonance Imaging; Meningomyelocele; Neural Tube Defects; Pregnancy; Pregnancy Complications; Psychomotor Performance; Scoliosis; Ultrasonography, Prenatal; Urinary Catheterization; Ventriculoperitoneal Shunt
PubMed: 31451171
DOI: 10.1053/j.sempedsurg.2019.07.006 -
Pediatrics in Review Dec 2019
Review
Topics: Child; Cutaneous Fistula; Humans; Infant; Neural Tube Defects; Spine
PubMed: 31792051
DOI: 10.1542/pir.2018-0155 -
JAMA Aug 2023
Topics: Humans; Folic Acid; Food, Fortified; Neural Tube Defects
PubMed: 37526731
DOI: 10.1001/jama.2023.12376 -
Trends in Endocrinology and Metabolism:... Sep 2023Changes in maternal nutrient availability due to diet or disease significantly increase the risk of neural tube defects (NTDs). Because the incidence of metabolic... (Review)
Review
Changes in maternal nutrient availability due to diet or disease significantly increase the risk of neural tube defects (NTDs). Because the incidence of metabolic disease continues to rise, it is urgent that we better understand how altered maternal nutrient levels can influence embryonic neural tube development. Furthermore, primary neurulation occurs before placental function during a period of histiotrophic nutrient exchange. In this review we detail how maternal metabolites are transported by the yolk sac to the developing embryo. We discuss recent advances in understanding how altered maternal levels of essential nutrients disrupt development of the neuroepithelium, and identify points of intersection between metabolic pathways that are crucial for NTD prevention.
Topics: Humans; Female; Pregnancy; Folic Acid; Neural Tube; Neurulation; Placenta; Neural Tube Defects
PubMed: 37468429
DOI: 10.1016/j.tem.2023.06.005 -
Advances in Experimental Medicine and... 2020During embryonic development, the central nervous system forms as the neural plate and then rolls into a tube in a complex morphogenetic process known as neurulation.... (Review)
Review
During embryonic development, the central nervous system forms as the neural plate and then rolls into a tube in a complex morphogenetic process known as neurulation. Neural tube defects (NTDs) occur when neurulation fails and are among the most common structural birth defects in humans. The frequency of NTDs varies greatly anywhere from 0.5 to 10 in 1000 live births, depending on the genetic background of the population, as well as a variety of environmental factors. The prognosis varies depending on the size and placement of the lesion and ranges from death to severe or moderate disability, and some NTDs are asymptomatic. This chapter reviews how mouse models have contributed to the elucidation of the genetic, molecular, and cellular basis of neural tube closure, as well as to our understanding of the causes and prevention of this devastating birth defect.
Topics: Animals; Central Nervous System; Disease Models, Animal; Humans; Mice; Neural Plate; Neural Tube Defects; Neurulation
PubMed: 32304068
DOI: 10.1007/978-981-15-2389-2_2 -
Anesthesiology Clinics Sep 2020The most common congenital anomalies are congenital heart defects, cleft lip and palate, Down syndrome, and neural tube defects. Anesthetic considerations for Down... (Review)
Review
The most common congenital anomalies are congenital heart defects, cleft lip and palate, Down syndrome, and neural tube defects. Anesthetic considerations for Down syndrome include cervical spine instability, history of congenital heart disease, risk of bradycardia, hematologic, endocrine, and behavioral considerations. Patients with cleft lip and palate can have associated syndromes, and the potential for underlying abnormalities should be investigated prior to their anesthetic. A major anesthetic consideration for neural tube defect surgery is positioning for intubation. Fetal surgery for myelomeningocele has been shown to reduce the need for ventriculoperitoneal shunting and improved motor outcomes.
Topics: Anesthesia; Child, Preschool; Heart Defects, Congenital; Humans; Infant; Meningomyelocele; Mouth Abnormalities; Neural Tube Defects; Spinal Dysraphism
PubMed: 32792188
DOI: 10.1016/j.anclin.2020.06.002 -
Child's Nervous System : ChNS :... Aug 2020Tourniquet syndrome is a rare condition where a tourniquet applied to an appendage leads to an obstructed blood flow and subsequent ischemic injury. Meningomyelocele and...
Tourniquet syndrome is a rare condition where a tourniquet applied to an appendage leads to an obstructed blood flow and subsequent ischemic injury. Meningomyelocele and meningocele are common birth defects, and involvement of meningocele in tourniquet syndrome is never mentioned in the literature. We managed a 10-day-old male child presenting with infected lumber meningocele with a tourniquet tied at its base. It is being presented with review of relevant literature.
Topics: Child; Humans; Male; Meningocele; Meningomyelocele; Neural Tube Defects; Spinal Dysraphism; Tourniquets
PubMed: 32172393
DOI: 10.1007/s00381-020-04557-y -
Pediatric Neurosurgery 2022Recognition of tethered cord syndrome (TCS) in children is important because as the child grows, the spinal cord is stretched, leading to ischemia and subsequent...
INTRODUCTION
Recognition of tethered cord syndrome (TCS) in children is important because as the child grows, the spinal cord is stretched, leading to ischemia and subsequent neurological deficits, including bowel or bladder dysfunction, back and leg pain, or lower extremity weakness. Imaging findings raising concerns for tethering include presence of a fatty and/or thickened filum or a conus medullaris located caudal to L2.
OBJECTIVES
The objective of this study was to describe the symptomatic presentation of TCS in our institution, detect demographic and diagnostic predictors of signs and symptoms, assess changes in symptoms over time, and examine whether demographic and diagnostic variables affect changes in symptoms over time.
METHODS
Using a retrospective chart review from patients who underwent detethering at our institution between April 1, 2015 and March 31, 2019, we report on the signs and symptoms of patients undergoing detethering surgery at presentation and examine possible demographic and diagnostic predictors of those symptoms and changes in symptoms over time. Logistic regression analyses were used to determine whether symptoms at presentation were related to demographic and diagnostic predictors and to assess a change in symptoms over time.
RESULTS
A total of 273 patients underwent detethering and were analyzed. Of these, 144 (53%) were <5 years of age, 151 (55%) were male, 233 (85%) had a fatty filum, 179 (66%) had a thickened filum, and 106 (39%) had a low-lying conus. Patients <5 years of age were less likely to have urological, gastrointestinal, and neurological or orthopedic symptoms; patients with thickened fila (i.e., greater than 2 mm in diameter regardless of fat-infiltration) were less likely to have urological symptoms; and patients with low-lying coni were less likely to have gastrointestinal symptoms. Patients exhibiting symptoms at presentation had reduced rates of symptoms at the follow-up, but a reduction in rates of symptoms over time was unrelated to demographic or diagnostic variables. Surprisingly, 123 (45%) patients presented with intractable constipation.
CONCLUSION
In the population studied, several presenting symptoms, particularly constipation, were commonly reported. Children <5 years old were less likely to manifest clinically evident neurological/orthopedic, urological, and gastrointestinal symptoms than the older cohorts. Patients were less likely to report symptoms at both their first and second postoperative visit compared to presentation.
Topics: Cauda Equina; Child; Child, Preschool; Constipation; Female; Humans; Magnetic Resonance Imaging; Male; Neural Tube Defects; Retrospective Studies; Spinal Cord
PubMed: 35066504
DOI: 10.1159/000522135