-
Brazilian Journal of Cardiovascular... May 2023Congenital heart diseases (CHDs) constitute the most prevalent congenital pathology, and they are a consequence of structural and functional abnormalities during fetal... (Review)
Review
INTRODUCTION
Congenital heart diseases (CHDs) constitute the most prevalent congenital pathology, and they are a consequence of structural and functional abnormalities during fetal development. The etiology of CHD involves the interaction of genetic and environmental factors. Fetal cardiac surgery aims at preventing natural pathways of CHD in utero, mitigating progression to more complex abnormalities. The goal of this review was to demonstrate the benefits and risks of fetal interventions in the two most prevalent CHDs, pulmonary stenosis and pulmonary atresia with an intact ventricular septum, but also critical aortic stenosis and hypoplastic left heart syndrome.
METHODS
Original and relevant articles were selected by meta-aggregation to perform a qualitative analysis of fetal cardiac interventions for pulmonary stenosis and critical aortic stenosis. The Joanna Briggs Institute's Qualitative Assessment and Review Instrument (or JBI-QARI) was used for data quality appraisal.
RESULTS
Of 61 potential articles, 13 were selected, and nine were finally included. Discussion: The present review demonstrated that fetal cardiac surgery increases right ventricular growth and hemodynamic flow in pulmonary stenosis, whereas in critical aortic stenosis it enables growth of the left ventricle and increases left ventricular pressure. However, it has a high complication rate, along with considerable morbidity and mortality.
CONCLUSION
The benefits of fetal cardiac surgery for pulmonary stenosis and critical aortic stenosis are well-described in the literature; however, there is a significant risk of complications which can be reduced by the surgeon's technical expertise and well-structured hospital facilities.
Topics: Humans; Heart Defects, Congenital; Pulmonary Atresia; Aortic Valve Stenosis; Pulmonary Valve Stenosis; Risk Assessment
PubMed: 36592074
DOI: 10.21470/1678-9741-2022-0273 -
American Journal of Health Promotion :... 2008We conducted a systematic review of studies designed to increase awareness of knowledge about, and consumption of folic acid before and during pregnancy. (Review)
Review
OBJECTIVE
We conducted a systematic review of studies designed to increase awareness of knowledge about, and consumption of folic acid before and during pregnancy.
DATA SOURCES
Studies were identified from Cochrane Library, Medline, and the references of primary studies and reviews.
STUDY INCLUSION AND EXCLUSION CRITERIA
Studies included randomized controlled trials, quasi-experimental interrupted time series studies, follow-up studies, case-control studies, and before-and-after studies, all of which were conducted between 1992 and 2005 on women ages 15 to 49 years and/or health professionals, evaluating awareness and/or knowledge and/or consumption of folic acid both before and after intervention. Studies were excluded if data were not presented both before and after intervention or were other outcomes than those mentioned here.
DATA EXTRACTION
Data were extracted in relation to characteristics of studies, participants, interventions, and outcomes.
DATA SYNTHESIS
Because of heterogeneity, we performed a narrative synthesis describing the direction and the size of effects.
RESULTS
On average, women's awareness increased from 60% to 72%, knowledge from 21% to 45%, and consumption from 14% to 23%.
CONCLUSIONS
Interventions had a positive effect on folic acid intakes before and during pregnancy, although the average usage reached less than 25%.
Topics: Adolescent; Adult; Awareness; Congenital Abnormalities; Dietary Supplements; Female; Folic Acid; Health Education; Health Knowledge, Attitudes, Practice; Humans; Mass Media; Middle Aged; Outcome Assessment, Health Care; Pregnancy; Preventive Medicine; Time Factors
PubMed: 18421888
DOI: 10.4278/06051566R2.1 -
Journal of Pediatric Urology Dec 2023To review the urological outcomes of proactive versus delayed management of children with a neurogenic bladder (NB). (Meta-Analysis)
Meta-Analysis Review
PURPOSE
To review the urological outcomes of proactive versus delayed management of children with a neurogenic bladder (NB).
METHODS
We performed a literature search on EMBASE, MEDLINE, Scopus, Web of Science, and Cochrane Central Register of Controlled Trials between January 1, 2000 to August 21, 2023 for studies investigating the management of spina bifida-associated NB in pediatric patients (0-18 years of age). Proactive management was defined as use of clean intermittent catheterization, and/or anticholinergics at presentation, or based on initial high-risk urodynamic findings by 1 year of age. Delayed management was defined as beginning management after 1 year of age or no intervention. Outcomes included incidence or diagnosis of secondary vesicoureteral reflux (VUR), urinary tract infection (UTI), and renal deterioration, which included renal scarring, loss of differential renal function on a nuclear scan, or a decrease in renal function defined by glomerular filtration rate or serum creatinine estimation. Forest plots were synthesized using the Inverse Variance method with random-effect model. The Risk of Bias was assessed using the ROBINS-I tool.
RESULTS
We included 8 observational studies on 652 pediatric patients with spina bifida-associated NB (mean follow-up - 7 years). Proactive management following initial assessment was associated with significantly lower risks of secondary VUR (OR 0.37 [0.19, 0.74], p = 0.004), non-febrile UTI (OR 0.35 [0.19, 0.62], p = 0.0004), and renal deterioration (OR 0.31 [0.20, 0.47], p < 0.00001).
DISCUSSION
Delayed management of NB potentially has 3 times higher risks of secondary VUR, non-febrile UTI, and renal deterioration. However, the evidence is limited by the high risk of bias due to lack of randomization and standardized reporting in observational studies.
CONCLUSION
While further well-defined prospective studies with long-term follow-up should be conducted to confirm this finding, this study supports the EAU/ESPU recommendations for early intervention in children with NB.
Topics: Child; Humans; Urinary Bladder, Neurogenic; Prospective Studies; Kidney; Vesico-Ureteral Reflux; Urinary Tract Infections; Spinal Dysraphism; Retrospective Studies
PubMed: 37726188
DOI: 10.1016/j.jpurol.2023.08.033 -
Journal of Obstetrics and Gynaecology... Feb 2015Because of an increased resistance of urinary pathogens to penicillin derivatives, nitrofurantoin is commonly used as an alternative in treating urinary tract infection... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
Because of an increased resistance of urinary pathogens to penicillin derivatives, nitrofurantoin is commonly used as an alternative in treating urinary tract infection because a wide range of both Gram negative and positive organisms are sensitive to it. The safety of the fetus after exposure to nitrofurantoin remains controversial.
METHODS
We conducted a systematic review and meta-analysis to evaluate the fetal safety of nitrofurantoin. We searched Medline, EMBASE, references from published reports, and meeting abstracts for relevant studies. Articles were included in the review if they were human studies, reported pregnancy outcomes, reported the use of nitrofurantoin in the first trimester of pregnancy, and included a comparator group of unexposed pregnancies. The primary outcome was the rate of major malformations; secondary outcomes were rates of craniosynostosis, cleft lip or palate defects, cardiovascular defects, and hypoplastic left heart syndrome.
RESULTS
Eight studies reporting on 91 115 exposed cases and 1 578 745 unexposed controls were included in the primary meta-analysis examining the risk of major malformation. Five cohort studies reported on 9275 exposed and 1 491 933 unexposed infants, resulting in an overall RR of 1.01 (95% CI 0.81 to 1.26); however, three case-control studies with a total of 39 268 cases of major malformations and 129 394 controls gave an overall OR of 1.22 (95% CI 1.02 to 1.45). No increased risk for cardiovascular malformations, oral cleft, or craniosynostosis was identified. For assessing risk of hypoplastic left heart syndrome, only three articles were eligible; these demonstrated an OR of 3.07 (95% CI 1.59 to 5.93).
CONCLUSION
While no association was found between fetal exposure to nitrofurantoin and major malformation in cohort studies, there was a slight but significant teratogenic risk in case-control studies, which are more sensitive to adverse effects.
Topics: Abnormalities, Drug-Induced; Anti-Infective Agents, Urinary; Female; Humans; Maternal Exposure; Nitrofurantoin; Pregnancy; Pregnancy Trimester, First
PubMed: 25767948
DOI: 10.1016/S1701-2163(15)30337-6 -
Child's Nervous System : ChNS :... Feb 2021Pfeiffer syndrome (PS) is a rare autosomal dominant craniofacial disorder characterized by primary craniosynostosis, midface hypoplasia, and extremities' abnormalities... (Review)
Review
Pfeiffer syndrome (PS) is a rare autosomal dominant craniofacial disorder characterized by primary craniosynostosis, midface hypoplasia, and extremities' abnormalities including syndactyly. The purpose of this article was to review the current knowledge regarding how PS affects the nervous system. Methodologically, we conducted a systematic review of the existing literature concerning involvement of the nervous system in PS. Multiple-suture synostosis is common, and it is the premature fusion and abnormal growth of the facial skeleton's bones that cause the characteristic facial features of these patients. Brain abnormalities in PS can be primary or secondary. Primary anomalies are specific developmental brain defects including disorders of the white matter. Secondary anomalies are the result of skull deformity and include intracranial hypertension, hydrocephalus, and Chiari type I malformation. Spinal anomalies in PS patients include fusion of vertebrae, "butterfly" vertebra, and sacrococcygeal extension. Different features have been observed in different types of this syndrome. Cloverleaf skull deformity characterizes PS type II. The main neurological abnormalities are mental retardation, learning difficulties, and seizures. The tricky neurological examination in severely affected patients makes difficult the early diagnosis of neurological and neurosurgical complications. Prenatal diagnosis of PS is possible either molecularly or by sonography, and the differential diagnosis includes other craniosynostosis syndromes. Knowing how PS affects the nervous system is important, not only for understanding its pathogenesis and determining its prognosis but also for the guidance of decision-making in the various critical steps of its management. The latter necessitates an experienced multidisciplinary team.
Topics: Acrocephalosyndactylia; Brain; Craniosynostoses; Facial Bones; Humans; Hydrocephalus
PubMed: 33083874
DOI: 10.1007/s00381-020-04934-7 -
Acta Obstetricia Et Gynecologica... 2010While active maternal tobacco smoking has well established adverse perinatal outcomes, the effects of passive maternal smoking, also called environmental tobacco... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
While active maternal tobacco smoking has well established adverse perinatal outcomes, the effects of passive maternal smoking, also called environmental tobacco exposure (ETS), are less well studied and less consistent.
OBJECTIVE
To determine to the effect of ETS on perinatal outcomes.
SEARCH STRATEGY
Medline, EMBASE and reference lists were searched.
SELECTION CRITERIA
Studies comparing ETS-exposed pregnant women with those unexposed which adequately addressed active maternal smoking.
DATA COLLECTION AND ANALYSIS
Two reviewers independently assessed titles, abstracts, full studies, extracted data and assessed quality. Dichotomous data were pooled using odds ratios (OR) and continuous data with weighted mean differences (WMD) using a random effects model.
MAIN RESULTS
Seventy-six articles were included with a total of 48,439 ETS-exposed women and 90,918 unexposed women. ETS-exposed infants weighed less [WMD -60 g, 95% confidence interval (CI) -80 to -39 g], with a trend towards increased low birthweight (LBW, < 2,500 g; RR 1.16; 95% CI 0.99-1.36), although the duration of gestation and preterm delivery were similar (WMD 0.02 weeks, 95% CI -0.09 to 0.12 weeks and RR 1.07; 95% CI 0.93-1.22). ETS-exposed infants had longer infant lengths (1.75 cm; 95% CI 1.37-2.12 cm), increased risks of congenital anomalies (OR 1.17; 95% CI 1.03-1.34) and a trend towards smaller head circumferences (-0.11 cm; 95% CI -0.22 to 0.01 cm).
CONCLUSIONS
ETS-exposed women have increased risks of infants with lower birthweight, congenital anomalies, longer lengths, and trends towards smaller head circumferences and LBW.
Topics: Body Height; Cephalometry; Congenital Abnormalities; Female; Humans; Infant, Low Birth Weight; Infant, Newborn; Maternal Exposure; Pregnancy; Skull; Tobacco Smoke Pollution
PubMed: 20085532
DOI: 10.3109/00016340903505748 -
Heart, Lung & Circulation Feb 2015Aortic arch abnormalities are uncommon and may be seen in association with other congenital cardiac anomalies. Coarctation, pseudocoarctation and hypoplastic aortic arch... (Review)
Review
Aortic arch abnormalities are uncommon and may be seen in association with other congenital cardiac anomalies. Coarctation, pseudocoarctation and hypoplastic aortic arch are known aortic arch abnormalities, with the former being well studied, whilst for the latter two, much less is known. There are similarities and differences that are important to distinguish among these three conditions in order to avoid errors in diagnosis that may result in unnecessary investigations, which may in turn result in physical or emotional harm to the patient. For this reason, we present a systematic review of the published literature providing an evidence-based overview that may be helpful to clinicians when faced with this diagnostic dilemma.
Topics: Aorta, Thoracic; Aortic Coarctation; Aortic Diseases; Humans
PubMed: 25442062
DOI: 10.1016/j.hlc.2014.08.006 -
The Journal of Craniofacial Surgery Mar 2018Accessory auricles are rare congenital abnormalities embryologically derived from the first branchial arch. Presentation may be variable with locations grouped into... (Review)
Review
Accessory auricles are rare congenital abnormalities embryologically derived from the first branchial arch. Presentation may be variable with locations grouped into anatomical zones based on the frequency of location found in the literature. This study reviewed the papers between 1981 and 2017. Findings included an association with syndromes including Goldenhar, VACTERL, Treacher-Collins, Townes-Brocks, and Wolf-Hirschhorn. Based on histological and embryological evidence, the term "accessory auricle" is best used as an umbrella term to define this difference. Finally, indications are provided for imaging and laboratory investigations to guide the physician treating patients with accessory auricles.
Topics: Abnormalities, Multiple; Anal Canal; Anus, Imperforate; Branchial Region; Ear, External; Esophagus; Goldenhar Syndrome; Hearing Loss, Sensorineural; Heart Defects, Congenital; Humans; Kidney; Limb Deformities, Congenital; Mandibulofacial Dysostosis; Spine; Thumb; Trachea
PubMed: 29239919
DOI: 10.1097/SCS.0000000000004201 -
Orphanet Journal of Rare Diseases May 2018Origin of anorectal malformations (ARM) are considered multifactorial. Several genetic and non-genetic risk factors are discussed in literature. Maternal... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Origin of anorectal malformations (ARM) are considered multifactorial. Several genetic and non-genetic risk factors are discussed in literature. Maternal periconceptional medical drug use as possible risk factor, however, has not been reviewed systematically.
METHODS
Studies published between 1977 and April 2017 were reviewed through systematic search in PubMed, ISI Web of Knowledge and Scopus databases. Furthermore, related and cross-referencing publications were reviewed. Pooled odds ratios (95% confidence intervals) were determined to quantify associations of maternal periconceptional use of folic acid, multivitamins, anti-asthma medication (separated in any anti-asthma medication, inhaled corticosteroids and salbutamol), thyroid hormone supplements, psychiatric drugs (separated in antidepressants, any selective serotonin reuptake inhibitors [SSRI], sertraline, citalopram, fluoxetine, paroxetine, hypnotics and benzodiazepine) and aspirin with ARM using meta-analyses.
RESULTS
Thirty-seven studies that reported on the association between maternal periconceptional drug intake and infants born with ARM were included in this review. These were conducted in the United States of America (n = 14), Sweden (n = 6), Hungary (n = 5), Germany (n = 3), the Netherlands (n = 3), Denmark (n = 2), France (n = 2), Norway (n = 1) and the UK (n = 1). However, only few of these studies reported on the same risk factors. Studies were heterogeneous with respect to case numbers, period ingestion of medical drug use, control selection and adjustment for covariates. Consistently increased risks were observed for any anti-asthma medication, and hypnotics and benzodiazepine, but not for folic acid, multivitamins, inhaled corticosteroids, salbutamol, thyroid hormone supplements, antidepressants, any SSRI, sertraline, citalopram, fluoxetine, paroxetine and aspirin. In meta-analyses, pooled odds ratios (95% confidence intervals) for any anti-asthma medication, and hypnotics and benzodiazepine were 1.64 (1.22-2.21), and 2.43 (1.03-5.73), respectively.
CONCLUSION
Evidence on maternal drug use before conception and during pregnancy as risk factor for ARM from epidemiological studies is still very limited. Nevertheless, the few available studies indicate any anti-asthma medication, and hypnotics and benzodiazepine to be associated with increased risks. Further, ideally large-scale multicenter and register-based studies are needed to clarify the role of maternal drug intake for the development of ARM.
Topics: Anorectal Malformations; Anti-Asthmatic Agents; Anus, Imperforate; Benzodiazepines; Congenital Abnormalities; Female; Humans; Hypnotics and Sedatives; Pregnancy; Risk Factors
PubMed: 29747656
DOI: 10.1186/s13023-018-0789-3 -
Viruses Dec 2022Viral infections during pregnancy raise several clinical challenges, including birth defects in the offspring. Thus, this systematic review and meta-analysis aims to... (Meta-Analysis)
Meta-Analysis Review
Viral infections during pregnancy raise several clinical challenges, including birth defects in the offspring. Thus, this systematic review and meta-analysis aims to prove and highlight the risk of birth defects after first-trimester maternal influenza infection. Our systematic search was performed on 21 November 2022. Studies that reported maternal influenza infection in the first trimester and non-chromosomal congenital abnormalities were considered eligible. We used odds ratios (OR) with 95% confidence intervals (CIs) to measure the effect size. Pooled ORs were calculated with a random effects model. Heterogeneity was measured with I² and Cochran's Q tests. We found that first-trimester maternal influenza was associated with increased odds of developing any type of birth defects (OR: 1.5, CI: 1.30-1.70). Moreover, newborns were more than twice as likely to be diagnosed with neural tube defects (OR: 2.48, CI: 1.95-3.14) or cleft lip and palate (OR: 2.48, CI: 1.87-3.28). We also found increased odds of developing congenital heart defects (OR: 1.63, CI: 1.27-2.09). In conclusion, influenza increases the odds of non-chromosomal birth defects in the first trimester. The aim of the present study was to estimate the risk of CAs in the offspring of mothers affected by first-trimester influenza infection.
Topics: Pregnancy; Female; Infant, Newborn; Humans; Pregnancy Trimester, First; Cleft Lip; Influenza, Human; Cleft Palate; Mothers
PubMed: 36560711
DOI: 10.3390/v14122708