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European Spine Journal : Official... Nov 2023The main objective of this study was to assess the overall incidence of genitourinary anomalies in patients with congenital scoliosis by providing the highest level of... (Meta-Analysis)
Meta-Analysis Review
PURPOSE
The main objective of this study was to assess the overall incidence of genitourinary anomalies in patients with congenital scoliosis by providing the highest level of evidence. The secondary objective was to look for associations and trends influencing the incidence.
METHODS
A meta-analysis using PubMed, Embase, Scopus, and the Cochrane Collaboration Library database was carried out. We included studies focusing on patients with congenital scoliosis and genitourinary anomalies. The main outcome was the incidence of genitourinary anomalies in congenital scoliosis. We also collected the following data: patient gender, type of deformity (formation, segmentation, or mixed), deformity location, and associated anomalies. We included cohort studies. Data was extracted from published reports and combined using Review Manager 5.4. The quality of the included studies was assessed independently by two authors using the Methodological Index for Non-Randomized Studies (MINORS) criteria.
RESULTS
A total of eight cohort studies were included from a pool of 2781 patients. The incidence of genitourinary anomalies associated with congenital scoliosis was 22.91% (95% CI 13.39-32.43%). The incidence of surgically treated genitourinary anomalies was 13.92% (95% CI 4.54-23.31%). There were no differences related to gender (male 49.3% versus female 50.7%; p > 0.05). There were no differences regarding the type of deformity. The incidences of associated intraspinal, cardiac, musculoskeletal and craniofacial anomalies were 33.30%, 17.60%, 27.77% and 19.83% respectively. The most frequent genitourinary anomalies were: unilateral kidney (111/388); renal ectopia (50/367); obstructive uropathy (30/201), horseshoe kidney (30/313) and undescended testicle (16/180).
CONCLUSIONS
The incidence of genitourinary anomalies associated with congenital scoliosis was 22.91%, and 13.92% were surgically treated. Unilateral kidney was the most common genitourinary abnormality. There were no differences between genders and deformity types. It is important to consider the association between genitourinary anomalies and intraspinal or musculoskeletal anomalies.
Topics: Humans; Male; Female; Scoliosis; Incidence; Retrospective Studies; Cohort Studies; Urogenital Abnormalities
PubMed: 37572143
DOI: 10.1007/s00586-023-07889-w -
British Journal of Clinical Pharmacology Oct 2017To investigate the safety of fluoxetine use during pregnancy, and to better understand the relationship between maternal fluoxetine use during the first trimester and... (Meta-Analysis)
Meta-Analysis Review
AIMS
To investigate the safety of fluoxetine use during pregnancy, and to better understand the relationship between maternal fluoxetine use during the first trimester and congenital malformations in infants.
METHODS
PubMed and Web of Science databases were systematically searched from inception to 21 March 2016. Additional studies were identified in a manual search of the reference lists. Two reviewers independently extracted data. A third reviewer checked the data. Estimates were pooled using a random-effects model to calculate the summarized relative ratios (RR) and 95% confidence intervals (CI).
RESULTS
Among 1918 initially identified articles, 16 cohort studies were included. The offspring of pregnant women exposed to fluoxetine during the first trimester had a statistically increased risk of major malformations (RR = 1.18, 95% CI = 1.08-1.29), cardiovascular malformations (RR = 1.36, 95% CI = 1.17-1.59), septal defects (RR = 1.38, 95% CI = 1.19-1.61), and non-septal defects (RR = 1.39, 95% CI = 1.12-1.73) with low heterogeneity in infants. There were no significant observations of other system-specific malformations in the nervous system, eye, urogenital system, digestive system, respiratory system, or musculoskeletal system, respectively. There was no indication of publication bias.
CONCLUSIONS
The results of this meta-analysis indicate maternal fluoxetine use is associated with a slightly increased risk of cardiovascular malformations in infants. Health care providers and pregnant women must weigh the risk-benefit potential of these drugs when making decisions about whether to treat with fluoxetine during pregnancy.
Topics: Abnormalities, Drug-Induced; Antidepressive Agents, Second-Generation; Depression; Female; Fluoxetine; Heart Septal Defects; Humans; Incidence; Infant; Pregnancy; Pregnancy Complications; Pregnancy Trimester, First; Publication Bias
PubMed: 28513059
DOI: 10.1111/bcp.13321 -
Paediatric Respiratory Reviews Dec 2021Down syndrome (DS) is a prevalent chromosomal disorder associated with a wide range of congenital anomalies and other health problems. (Review)
Review
CONTEXT
Down syndrome (DS) is a prevalent chromosomal disorder associated with a wide range of congenital anomalies and other health problems.
OBJECTIVES
To give a scoping overview of encountered lower airway problems (both infectious and non-infectious) in DS children.
DATA SOURCES
We systematically searched the MEDLINE and PubMed databases for relevant publications.
STUDY SELECTION
Studies were eligible if they were original studies about pediatric airway problems in DS and were evaluated by the PRISMA guidelines.
DATA EXTRACTION
Data concerning patient characteristics, study methods and outcomes were critically reviewed.
RESULTS
Sixty papers were included. These were reviewed and summarized by topic, i.e. airway anomalies, dysphagia and aspiration, lower respiratory tract infections (and bronchiolitis in particular), pulmonary hypertension and other. Respiratory problems are proven to be a frequent and a major health burden in DS children. Airway anomalies (both single and multiple) are more prevalent and require a specific approach. A large proportion of DS children have (often silent) aspiration, resulting in protracted and difficult-to-treat symptoms. Respiratory tract infections are usually more severe and associated with an increased need for (prolonged) hospitalization. Pulmonary hypertension, wheeze and some other rare conditions are more commonly encountered in DS.
LIMITATIONS
Large number of studies and high levels of study heterogeneity.
CONCLUSIONS
Several lower airway problems are more frequent and more complex in children with DS. These findings emphasize the need for a multidisciplinary approach by an experienced team allowing for a prompt diagnosis, proper management and improved long term outcome.
Topics: Child; Down Syndrome; Humans; Hypertension, Pulmonary; Respiration Disorders; Respiratory Sounds; Respiratory Tract Infections
PubMed: 34148805
DOI: 10.1016/j.prrv.2021.04.006 -
BMJ Paediatrics Open Jul 2023To evaluate the pooled prevalence and identify risk factors of congenital anomalies among neonates in Africa. (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To evaluate the pooled prevalence and identify risk factors of congenital anomalies among neonates in Africa.
METHODS
The pooled birth prevalence of congenital anomalies was the first outcome of this review, and the pooled measure of association between congenital anomalies and related risk factors in Africa was the second. We conducted a thorough search of the databases PubMed/ Medline, PubMed Central, Hinary, Google, Cochrane Library, African Journals Online, Web of Science and Google Scholar up to 31 January 2023. The JBI appraisal checklist was used to evaluate the studies. STATA V.17 was used for the analysis. The I test and Eggers and Beggs tests were used to measure study heterogeneity and publication bias respectively. The pooled prevalence of congenital anomalies was calculated using DerSimonian and Laird random-effect model. Subgroup analysis, sensitivity analysis and meta-regression were also performed.
RESULT
This systematic review and meta-analysis includes 32 studies with a total of 626 983 participants. The pooled prevalence of congenital anomalies was 23.5 (95% CI 20 to 26.9) per 1000 newborns. Not taking folic acid (pooled OR=2.67; 95% CI (1.42 to 5.00)), history of maternal illness (pooled OR=2.44, 95% CI (1.2 to 4.94)), history of drug use (pooled OR=2.74, 95% CI (1.29 to 5.81)), maternal age (>35 years.) (Pooled OR=1.97, 95% CI (1.15 to 3.37)), drinking alcohol (pooled OR=3.15, 95% CI (1.4 to 7.04)), kchat chewing (pooled OR=3.34, 5% CI (1.68 to 6.65)) and urban residence (pooled OR=0.58, 95% CI (0.36 to 0.95)) were had significant association with congenital anomalies.
CONCLUSION
The pooled prevalence of congenital abnormalities in Africa was found to be substantial, with significant regional variation. Appropriate folate supplementation during pregnancy, proper management of maternal sickness, proper antenatal care, referring healthcare personnel before using drugs, avoiding alcohol intake and kchat chewing are all important in lowering the occurrence of congenital abnormalities among newborns in Africa.
Topics: Adult; Female; Humans; Infant, Newborn; Pregnancy; Africa; Congenital Abnormalities; Risk Factors
PubMed: 37429669
DOI: 10.1136/bmjpo-2023-002022 -
International Journal of Oral and... Oct 2017Craniofacial microsomia (CFM) is characterized by a heterogeneous underdevelopment of the facial structures arising from the first and second branchial arches, but... (Review)
Review
Craniofacial microsomia (CFM) is characterized by a heterogeneous underdevelopment of the facial structures arising from the first and second branchial arches, but extracraniofacial malformations such as vertebral anomalies also occur. This systematic review provides an overview of the literature on the types and prevalence of vertebral anomalies found in patients with CFM. A systematic search was conducted. Data on the number of patients, patient characteristics, types and prevalence of vertebral anomalies, and other associations between CFM and vertebral anomalies were extracted from the articles identified. Thirty-one articles were included. Seventeen articles described both the prevalence and types of vertebral anomalies in CFM, five articles described solely the types of vertebral anomalies in CFM, and nine articles reported solely the prevalence of vertebral anomalies in CFM. The vertebral anomalies most often reported in CFM are hemivertebrae, block vertebrae, scoliosis/kyphoscoliosis, and spina bifida. These anomalies are mostly present in the cervical and thoracic spine and ribs. The reported prevalence of vertebral anomalies in CFM varies from 8% to 79%. To diagnose vertebral anomalies early in patients with CFM, further research should focus on determining which patients with CFM are at risk of vertebral anomalies.
Topics: Abnormalities, Multiple; Goldenhar Syndrome; Humans; Spine
PubMed: 28669484
DOI: 10.1016/j.ijom.2017.04.025 -
Human Reproduction (Oxford, England) Jan 2016What is the recommended diagnostic work-up of female genital anomalies according to the European Society of Human Reproduction and Embryology (ESHRE)/European Society... (Review)
Review
STUDY QUESTION
What is the recommended diagnostic work-up of female genital anomalies according to the European Society of Human Reproduction and Embryology (ESHRE)/European Society for Gynaecological Endoscopy (ESGE) system?
SUMMARY ANSWER
The ESHRE/ESGE consensus for the diagnosis of female genital anomalies is presented.
WHAT IS KNOWN ALREADY
Accurate diagnosis of congenital anomalies still remains a clinical challenge because of the drawbacks of the previous classification systems and the non-systematic use of diagnostic methods with varying accuracy, some of them quite inaccurate. Currently, a wide range of non-invasive diagnostic procedures are available enriching the opportunity to accurately detect the anatomical status of the female genital tract, as well as a new objective and comprehensive classification system with well-described classes and sub-classes.
STUDY DESIGN, SIZE, DURATION
The ESHRE/ESGE CONgenital UTerine Anomalies (CONUTA) Working Group established an initiative with the goal of developing a consensus for the diagnosis of female genital anomalies. The CONUTA working group and imaging experts in the field have been appointed to run the project.
PARTICIPANTS/MATERIALS, SETTING, METHODS
The consensus is developed based on: (i) evaluation of the currently available diagnostic methods and, more specifically, of their characteristics with the use of the experts panel consensus method and of their diagnostic accuracy by performing a systematic review of evidence and (ii) consensus for the definition of where and how to measure uterine wall thickness and the recommendations for the diagnostic work-up of female genital anomalies, based on the results of the previous evaluation procedure, with the use of the experts panel consensus method.
MAIN RESULTS AND THE ROLE OF CHANCE
Uterine wall thickness is defined as the distance between the interostial line and external uterine profile at the midcoronal plane of the uterus; alternatively, if a coronal plane is not available, the mean anterior and posterior uterine wall thickness at the longitudinal plane could be used. Gynecological examination and two-dimensional ultrasound (2D US) are recommended for the evaluation of asymptomatic women. Three-dimensional (3D) US is recommended for the diagnosis of female genital anomalies in 'symptomatic' patients belonging to high risk groups for the presence of a female genital anomaly and in any asymptomatic woman suspected to have an anomaly from routine evaluation. Magnetic resonance imaging (MRI) and endoscopic evaluation are recommended for the subgroup of patients with suspected complex anomalies or in diagnostic dilemmas. Adolescents with symptoms suggestive for the presence of a female genital anomaly should be thoroughly evaluated with 2D US, 3D US, MRI and endoscopically.
LIMITATIONS, REASONS FOR CAUTION
The various diagnostic methods should always be used in the proper way and evaluated by experts to avoid mis-, over- and underdiagnosis.
WIDER IMPLICATIONS OF THE FINDINGS
The role of a combined US examination and outpatient hysteroscopy should be prospectively evaluated. It is a challenge for further research, based on diagnosis, to objectively evaluate the clinical consequences related to various degrees of uterine deformity.
STUDY FUNDING/COMPETING INTERESTS
None.
Topics: Consensus; Female; Genitalia, Female; Humans; Societies, Medical; Ultrasonography; Urogenital Abnormalities; Uterus
PubMed: 26537921
DOI: 10.1093/humrep/dev264 -
Cardiology in the Young Jan 2015Down syndrome is the most common chromosomal abnormality, with an incidence of one case in every 650 live births. It is strongly associated with heart disease, which... (Review)
Review
Down syndrome is the most common chromosomal abnormality, with an incidence of one case in every 650 live births. It is strongly associated with heart disease, which constitutes the main cause of mortality during the first 2 years of life in this population. Most of the cardiac abnormalities in patients with Down syndrome can be suspected by analysing the surface 12-lead ECG. The purpose of this systematic review was to analyse all available published material on surface ECG and cardiac rhythm and conduction abnormalities in patients with Down syndrome to facilitate the search to the clinical cardiologist and paediatrician.
Topics: Arrhythmias, Cardiac; Down Syndrome; Electrocardiography; Global Health; Heart Defects, Congenital; Humans; Incidence
PubMed: 24690318
DOI: 10.1017/S1047951114000420 -
Frontiers in Endocrinology 2023Noonan syndrome (NS) is a genetic multisystem disorder characterised by variable clinical manifestations including dysmorphic facial features, short stature, congenital...
BACKGROUND
Noonan syndrome (NS) is a genetic multisystem disorder characterised by variable clinical manifestations including dysmorphic facial features, short stature, congenital heart disease, renal anomalies, lymphatic malformations, chest deformities, cryptorchidism in males.
METHODS
In this narrative review, we summarized the available data on puberty and gonadal function in NS subjects and the role of the RAS/mitogen-activated protein kinase (MAPK) signalling pathway in fertility. In addition, we have reported our personal experience on pubertal development and vertical transmission in NS.
CONCLUSIONS
According to the literature and to our experience, NS patients seem to have a delay in puberty onset compared to the physiological timing reported in healthy children. Males with NS seem to be at risk of gonadal dysfunction secondary not only to cryptorchidism but also to other underlying developmental factors including the MAP/MAPK pathway and genetics. Long-term data on a large cohort of males and females with NS are needed to better understand the impact of delayed puberty on adult height, metabolic profile and well-being. The role of genetic counselling and fertility related-issues is crucial.
Topics: Male; Child; Adult; Female; Humans; Noonan Syndrome; Cryptorchidism; Gonads; Puberty; Mitogen-Activated Protein Kinases
PubMed: 37576960
DOI: 10.3389/fendo.2023.1213098 -
Ultrasound in Obstetrics & Gynecology :... Apr 2017The majority of studies on fetal ventriculomegaly have focused on the perinatal and long-term outcomes in fetuses with an antenatal diagnosis of bilateral... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
The majority of studies on fetal ventriculomegaly have focused on the perinatal and long-term outcomes in fetuses with an antenatal diagnosis of bilateral ventriculomegaly. The aim of this study was to undertake a systematic review and meta-analysis to quantify the perinatal and long-term outcomes in fetuses diagnosed in the second or third trimester of pregnancy with isolated unilateral ventriculomegaly.
METHODS
MEDLINE, EMBASE and The Cochrane Library were searched electronically. Outcomes investigated included incidence of aneuploidy, congenital infection, progression of ventriculomegaly, associated brain and extracerebral abnormalities in the apparently isolated cases and neurodevelopmental delay in both apparently and truly isolated cases. Sensitivity analysis was performed according to whether the ventriculomegaly was mild/moderate (atrial width < 15 mm) or severe (atrial width ≥ 15 mm). Reference lists within relevant articles and reviews were hand-searched for additional reports. Cohort and case-control studies were included. Meta-analysis of proportions was used, and between-study heterogeneity was assessed using the I test.
RESULTS
The search yielded 2053 citations. The full text was retrieved for 202, and 11 studies were included in the systematic review. In fetuses with apparently isolated unilateral ventriculomegaly, no chromosomal abnormalities were identified and the pooled prevalence of congenital infection was 8.2% (95% CI, 3.6-14.5%). The pooled prevalence of additional brain abnormalities detected prenatally and postnatally by magnetic resonance imaging was 5.1% (95% CI, 0.2-16.1%) and 6.4% (95% CI, 0.3-19.4%), respectively. The pooled prevalence of abnormal neurodevelopment was 5.9% (95% CI, 2.2-11.2%) in apparently isolated cases with an atrial width of < 15 mm, and it was 7.0% (95% CI, 3.2-12.2%) in fetuses with truly isolated unilateral ventriculomegaly. Most cases with apparently isolated ventriculomegaly were classified as mild/moderate (93.5%) and therefore the outcomes in this group were similar to those in the whole cohort of apparently isolated ventriculomegaly.
CONCLUSIONS
The prevalence of aneuploidy, congenital infection and neurodevelopmental delay in fetuses with a prenatal diagnosis of isolated unilateral ventriculomegaly is likely to be low. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.
Topics: Aneuploidy; Congenital Abnormalities; Female; Fetal Diseases; Humans; Hydrocephalus; Infections; Neurodevelopmental Disorders; Perinatal Care; Pregnancy; Pregnancy Outcome; Pregnancy Trimester, Second; Pregnancy Trimester, Third; Ultrasonography, Prenatal
PubMed: 27091707
DOI: 10.1002/uog.15943 -
Prenatal Diagnosis Jul 2016Prenatal diagnosis of fetal anomalies may arouse fear, anxiety and distress in parents, and counselling may assist parents to cope with the diagnosis. This systematic... (Review)
Review
OBJECTIVE
Prenatal diagnosis of fetal anomalies may arouse fear, anxiety and distress in parents, and counselling may assist parents to cope with the diagnosis. This systematic review aimed to (1) synthesise the evidence on the impact of non-genetic, prenatal counselling after fetal diagnosis of a congenital anomaly on parental knowledge and psychological adjustment and (2) identify parents' preferences for the timing and format of counselling.
METHOD
Five electronic databases were systematically searched to identify studies assessing prenatal counselling provided to parents after prenatal diagnosis of one or more structural congenital anomalies. Data were extracted using predefined data forms, according to the preferred reporting items for systematic reviews and meta-analyses guidelines, and synthesised.
RESULT
Twenty four articles were included for review; most articles reported results of retrospective surveys and the quality of included studies was variable. Only three studies assessed parental anxiety, and each reported a significant decrease in anxiety following prenatal counselling. Parents expressed a preference for counselling on all aspects of their baby's anomaly as soon as possible after prenatal diagnosis, and desired written, visual and web-based information resources, and support group contacts.
CONCLUSION
Although prenatal counselling reduced parental anxiety, further research is needed to adequately assess the impact of prenatal counselling on other psychological outcomes. © 2016 John Wiley & Sons, Ltd.
Topics: Adaptation, Psychological; Anxiety; Congenital Abnormalities; Counseling; Female; Humans; Parents; Pregnancy; Prenatal Care; Prenatal Diagnosis
PubMed: 27150825
DOI: 10.1002/pd.4836