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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 -
Archives of Disease in Childhood. Fetal... Dec 2023To describe families' experiences of antenatal counselling of spina bifida.
OBJECTIVE
To describe families' experiences of antenatal counselling of spina bifida.
DESIGN
Systematic review.
METHODS
MEDLINE, CINAHL, PsycINFO and Embase databases were searched using a combination of Medical Subject Headings and text/abstract terms. Case reports, survey results and qualitative interview data were included. The quality of research was evaluated using the Critical Appraisal Skills Programme checklist.
RESULTS
8 papers were included. Families described shock and grief at diagnosis, with some immediately offered termination of pregnancy (TOP) even though they knew little about the condition. Positive and negative aspects of care were found. Teams that were gentle, kind and empathetic, who did not use jargon, and highlighted positive and negative aspects of the baby's life were seen favourably. Callous language, and overly negative or incorrect counselling was not, particularly if there was pressure to agree to TOP. Families based their decisions on how they would cope, the effect on siblings and the baby's likely quality of life. Prenatal surgery was viewed positively. The views of families who chose TOP, were happy with their care, partners, families, and the LGBTQ+ community were under-represented in the literature.
CONCLUSIONS
Unlike other conditions where limited data on outcome exist or the spectrum is genuinely broad, the outcomes of children with spina bifida is well described. Poor aspects of antenatal counselling were described frequently by families, and further work is needed to capture the full spectrum of views on antenatal counselling, how it can be improved, and what training and resources healthcare professionals need to perform it better.
Topics: Child; Infant; Humans; Pregnancy; Female; Quality of Life; Spinal Dysraphism; Health Personnel; Abortion, Induced
PubMed: 37433589
DOI: 10.1136/archdischild-2023-325391 -
American Journal of Obstetrics &... Aug 2023This study aimed to investigate prenatal predictors of the need for cerebrospinal fluid diversion in infants following prenatal repair of open spina bifida. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
This study aimed to investigate prenatal predictors of the need for cerebrospinal fluid diversion in infants following prenatal repair of open spina bifida.
DATA SOURCES
A systematic search was performed to identify relevant studies published from inception until June 2022 in the English language using the databases PubMed, Scopus, and Web of Science.
STUDY ELIGIBILITY CRITERIA
We included retrospective and prospective cohort studies and randomized controlled trials reporting on prenatal repair of open spina bifida.
METHODS
The random-effects model was used to pool the mean differences or odds ratios and the corresponding 95% confidence intervals. Heterogeneity was assessed using the I value.
RESULTS
A total of 9 studies including 948 pregnancies undergoing prenatal repair of open spina bifida were included in the final analysis. Prenatal factors that were significantly associated with the need for postnatal cerebrospinal fluid diversion were gestational age at surgery ≥25 weeks (odds ratio, 4.2; 95% confidence interval, 1.8-9.9; I=54%; P=.001), myeloschisis (odds ratio, 2.2; 95% confidence interval, 1.1-4.1; I=0.0%; P=.02), preoperative lateral ventricle width ≥15 mm (odds ratio, 4.5; 95% confidence interval, 2.9-6.9; I=0.0%; P<.0001), predelivery lateral ventricle width (mm) (mean difference, 8.3; 95% confidence interval, 6.4-10.2; I=0.0%; P<.0001), and preoperative lesion level at T12-L2 (odds ratio, 2.5; 95% confidence interval, 1.03-6.3; I=68%; P=.04). Factors that significantly reduced the need for postnatal shunt placement were gestational age at surgery <25 weeks (odds ratio, 0.3; 95% confidence interval, 0.15-0.6; I=67%; P=.001) and preoperative lateral ventricle width <15 mm (odds ratio, 0.3; 95% confidence interval, 0.2-0.4; I=0.0%; P<.0001).
CONCLUSION
This study demonstrated that among fetuses that underwent surgical repair of open spina bifida, having gestational age at surgery of ≥25 weeks, preoperative lateral ventricle width of ≥15 mm, myeloschisis lesion type, and preoperative lesion level above L3 was predictive of the need for cerebrospinal fluid diversion during the first year of life.
Topics: Pregnancy; Female; Infant; Humans; Spina Bifida Cystica; Retrospective Studies; Prospective Studies; Meningomyelocele; Prenatal Care
PubMed: 37098391
DOI: 10.1016/j.ajogmf.2023.100983 -
Child's Nervous System : ChNS :... Aug 2023Occipital encephalocele (OE) is one of congenital malformation of the central nervous system. However, giant OE, mostly defines as bigger-than-head OE, is extremely rare...
PURPOSE
Occipital encephalocele (OE) is one of congenital malformation of the central nervous system. However, giant OE, mostly defines as bigger-than-head OE, is extremely rare and carries a worse prognosis. Here, we presented our systematic review of the management of the giant OE and illustrated our case.
METHOD
The systematic review was carried out under PRISMA guidelines. Publications were searched under "occipital encephalocele" from 1959 to April 2021. Our primary area of interest was the outcome of patients who have undergone surgery for giant OE. Variables of interest included age, sex, size of the sac, presentations, associated anomalies, management, outcome, and follow-up period were collected.
RESULT
We collected 35 articles, consisting of 74 cases (including 1 case from our illustrative case), to perform a systematic review. The mean age at the time of surgery was 3.53 ± 8.22 months. The mean circumference of the sac was 52.41 ± 18.6 cm. The three most common associated anomalies were microcephaly, corpus callosal agenesis/dysgenesis, and Chiari malformation. After the surgery, survival was reported in 64 (90.1%) patients. Postoperative complications were reported in 14 cases (16 events). Age above 1 month at the time of surgery was significantly associated with survival (p = 0.02) but not with complication (p = 0.22). In contrast, the type of surgery was not associated with survival (p = 0.18) or complications (p = 0.41).
CONCLUSION
Despite a rare condition with a poor prognosis, our reported case and systematic review revealed promising outcomes of surgery regardless of surgical strategies, especially in patients older than 1 month. Thus, appropriate planning is essential for the treatment of this condition.
Topics: Humans; Infant; Encephalocele; Arnold-Chiari Malformation; Prognosis; Microcephaly; Central Nervous System
PubMed: 37076587
DOI: 10.1007/s00381-023-05934-z -
Child's Nervous System : ChNS :... Aug 2023Trans-sellar trans-sphenoidal encephalocele is a rare congenital anomaly, with only around 20 cases having been documented in literature around the world. Surgical...
Trans-sellar trans-sphenoidal encephalocele is a rare congenital anomaly, with only around 20 cases having been documented in literature around the world. Surgical repair of these defects in the pediatric population commonly uses either the transcranial or the transpalatal approach, with the choice of approach being individualized based on the clinical features, age, and associated defects present in the patient. Here, we document a case of a 4-month-old child who presented to us with nasal obstruction, who was diagnosed with this rare entity and successfully underwent a transcranial repair for the same. We also provide a systematic review of all existing case reports that have described this rare condition in the pediatric population, as weel as the different surgical approaches used in each case.
Topics: Humans; Infant; Child; Encephalocele; Nasal Obstruction; Magnetic Resonance Imaging; Facial Bones
PubMed: 37055485
DOI: 10.1007/s00381-023-05956-7