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Frontiers in Cardiovascular Medicine 2022Current management of isolated CoA, localized narrowing of the aortic arch in the absence of other congenital heart disease, is a success story with improved prenatal...
Current management of isolated CoA, localized narrowing of the aortic arch in the absence of other congenital heart disease, is a success story with improved prenatal diagnosis, high survival and improved understanding of long-term complication. Isolated CoA has heterogenous presentations, complex etiologic mechanisms, and progressive pathophysiologic changes that influence outcome. End-to-end or extended end-to-end anastomosis are the favored surgical approaches for isolated CoA in infants and transcatheter intervention is favored for children and adults. Primary stent placement is the procedure of choice in larger children and adults. Most adults with treated isolated CoA thrive, have normal daily activities, and undergo successful childbirth. Fetal echocardiography is the cornerstone of prenatal counseling and genetic testing is recommended. Advanced 3D imaging identifies aortic complications and myocardial dysfunction and guides individualized therapies including re-intervention. Adult CHD program enrollment is recommended. Longer follow-up data are needed to determine the frequency and severity of aneurysm formation, myocardial dysfunction, and whether childhood lifestyle modifications reduce late-onset complications.
PubMed: 35694677
DOI: 10.3389/fcvm.2022.817866 -
BMC Pregnancy and Childbirth Apr 2022The perinatal period is often characterized by specific fear, worry, and anxiety concerning the pregnancy and its outcomes, referred to as pregnancy-related anxiety....
BACKGROUND
The perinatal period is often characterized by specific fear, worry, and anxiety concerning the pregnancy and its outcomes, referred to as pregnancy-related anxiety. Pregnancy-related anxiety is uniquely associated with negative maternal and child health outcomes during pregnancy, at birth, and early childhood; as such, it is increasingly studied. We examined how pregnancy-related anxiety is measured, where measures were developed and validated, and where pregnancy-related anxiety has been assessed. We will use these factors to identify potential issues in measurement of pregnancy-related anxiety and the geographic gaps in this area of research.
METHODS
We searched the Africa-Wide, CINAHL, MEDLINE, PsycARTICLES, PsycINFO; PubMed, Scopus, Web of Science Core Collection, SciELO Citation Index, and ERIC databases for studies published at any point up to 01 August 2020 that assessed pregnancy-related anxiety. Search terms included pregnancy-related anxiety, pregnancy-related worry, prenatal anxiety, anxiety during pregnancy, and pregnancy-specific anxiety, among others. Inclusion criteria included: empirical research, published in English, and the inclusion of any assessment of pregnancy-related anxiety in a sample of pregnant women. This review is registered on PROSPERO (CRD42020189938).
RESULTS
The search identified 2904 records; after screening, we retained 352 full-text articles for consideration, ultimately including 269 studies in the review based on the inclusion and exclusion criteria. In total, 39 measures of pregnancy-related anxiety were used in these 269 papers, with 18 used in two or more studies. Less than 20% of the included studies (n = 44) reported research conducted in low- and middle-income country contexts. With one exception, all measures of pregnancy-related anxiety used in more than one study were developed in high-income country contexts. Only 13.8% validated the measures for use with a low- or middle-income country population.
CONCLUSIONS
Together, these results suggest that pregnancy-related anxiety is being assessed frequently among pregnant people and in many countries, but often using tools that were developed in a context dissimilar to the participants' context and which have not been validated for the target population. Culturally relevant measures of pregnancy-related anxiety which are developed and validated in low-income countries are urgently needed.
Topics: Anxiety; Anxiety Disorders; Child; Child, Preschool; Female; Humans; Infant, Newborn; Parturition; Poverty; Pregnancy; Pregnant Women
PubMed: 35428199
DOI: 10.1186/s12884-022-04661-8 -
International Journal of Language &... Jul 2021Prenatal alcohol exposure (PAE) is associated with growth deficits and neurodevelopmental impairment including foetal alcohol spectrum disorder (FASD). Difficulties with... (Review)
Review
BACKGROUND
Prenatal alcohol exposure (PAE) is associated with growth deficits and neurodevelopmental impairment including foetal alcohol spectrum disorder (FASD). Difficulties with oral and written communication skills are common among children with PAE; however, less is known about how communication skills of adolescents who have PAE compare with those who do not. Adolescence is a critical time for development, supporting the transition into adulthood, but it is considered a high-risk period for those with FASD.
AIMS
We conducted a systematic review to synthesize evidence regarding oral and written communication skills of adolescents with PAE or FASD and how they compare with those with no PAE.
METHODS & PROCEDURES
A comprehensive search strategy used seven databases: Cochrane Library, Cinahl, Embase, Medline, PsycInfo, Eric and Web of Science. Included studies reported on at least one outcome related to oral and written communication for a PAE (or FASD) group as well as a no/low PAE group, both with age ranges of 10-24 years. Quality assessment was undertaken.
MAIN CONTRIBUTION
Communication skills most often assessed in the seven studies included in this review were semantic knowledge, semantic processing, and verbal learning and memory. These communication skills, in addition to reading and spelling, were commonly weaker among adolescents with PAE compared with those with no/low PAE. However, the findings were inconsistent across studies, and studies differed in their methodologies.
CONCLUSIONS & IMPLICATIONS
Our results emphasize that for adolescents with PAE, communication skills in both oral and written modalities should be comprehensively understood in assessment and when planning interventions. A key limitation of the existing literature is that comparison groups often include some participants with a low level of PAE, and that PAE definitions used to allocate participants to groups differ across studies.
WHAT THIS PAPER ADDS
What is already known on the subject PAE and FASD are associated with deficits in oral and written communication skills. Studies to date have mostly focused on children with a FASD diagnosis as well as combined groups of children and adolescents with FASD or PAE. There is a gap in what is known about oral and written communication skills of adolescents, specifically, who have PAE or FASD. This has implications for the provision of assessment and supports during a period of increased social and academic demands. What this study adds to existing knowledge This review provides systematic identification, assessment and synthesis of the current literature related to oral and written communication skills of adolescents with PAE compared with those with no/low PAE. The review revealed a small knowledge base with inconsistent methodologies and findings across studies. However, the findings overall highlight that adolescents with PAE have weaker skills in oral and written language than those with no/low PAE. Results are discussed in relation to education, social and emotional well-being, and forensic contexts. What are the potential or actual clinical implications of this work? Findings emphasize that for adolescents with PAE, comprehensive assessment of both oral and written communication skills, through both standardized and functional tasks, should be undertaken. Speech-language pathologists have a key role in assessment with individuals who have PAE.
Topics: Adolescent; Adult; Child; Communication; Communication Disorders; Female; Fetal Alcohol Spectrum Disorders; Humans; Pregnancy; Prenatal Exposure Delayed Effects; Young Adult
PubMed: 34137136
DOI: 10.1111/1460-6984.12644 -
Translational Andrology and Urology Apr 2020Antenatal hydronephrosis is a common finding detected on prenatal ultrasound. Although hydronephrosis will spontaneously resolve in the majority of newborns, there is a... (Review)
Review
Antenatal hydronephrosis is a common finding detected on prenatal ultrasound. Although hydronephrosis will spontaneously resolve in the majority of newborns, there is a significant amount of cases that will worsen with the risk of a progressive and permanent loss of renal function. There is an increasing concern among experts that the current criteria for evaluation of clinically significant obstructions are limited. Our aim is to provide a systematic review of the available literature on biomarkers of renal injury, potential targets for diagnosis and prognosis of children with hydronephrosis. The main search was conducted in the electronic databases from inception through March 2019 using various combinations of the keywords: pelvic-ureteric [All Fields] AND junction [All Fields] AND obstruction [All Fields] AND "biomarkers" [MeSH Terms] OR "biomarkers" [All Fields] OR "biomarker" [All Fields]. To broaden the research, additional articles were identified through hand-searching review of the references reported in each study previously selected. Histopathological studies, studies with no control group or with participants suffering from concomitant urological diseases and articles published in language other than English were excluded. Data on study design, sample size, average patient age, hydronephrosis definition used, surgical indication, duration and pattern of follow-up, details on biomarker studied, diagnostic test characteristics, area under the curve (AUC) on receiver operating characteristic (ROC) analysis with the best cut-off (BCO) values, sensitivity, specificity and outcomes were all collected. 38 articles analysing 41 biomarkers were selected. The most frequent proteins investigated were neutrophil gelatinase-associated lipocalin (NGAL) (n=9; 23.7%), monocyte chemotactic peptide-1 (MCP1) (n=8; 21.1%), transforming growth factor β1 (TGFβ1) (n=7; 18.4%), epidermal growth factor (EGF) (n=6; 15.8%) and kidney injury molecule 1 (KIM 1) (n=6; 15.8%). Twenty-seven (71.1%) studies evaluated the effect of pyeloplasty on voided urine biomarker concentrations, comparing their values before and after surgery. Twelve (31.6%) studies investigated the correlation between preoperative biomarker concentration and the anterior posterior renal pelvis diameter (DAP) while 20 (52.6%) studies investigated the correlation between preoperative biomarker concentration with the split renal function (SRF) measured on nuclear medicine assessments. ROC curves were used to investigate the performance of urinary biomarkers in the total patient data set in 27 (71.1%) studies. Some biomarkers offer promising results. However, a critic analysis of the published studies demonstrates bias and lack of consistency suggesting that larger multicentre and carefully designed prospective studies are still needed to evaluate the clinical usefulness of urinary biomarkers in the diagnosis and follow-up of children with congenital obstructive hydronephrosis.
PubMed: 32420179
DOI: 10.21037/tau.2020.01.01 -
BMC Pregnancy and Childbirth Feb 2024Lamotrigine has become one of the most commonly prescribed antiseizure medications (ASM) in epileptic women during pregnancy and therefore requires regular updates... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Lamotrigine has become one of the most commonly prescribed antiseizure medications (ASM) in epileptic women during pregnancy and therefore requires regular updates regarding its safety. The aim of this study was to estimate the association between in utero exposure to lamotrigine monotherapy and the occurrence of neurodevelopmental outcomes.
METHODS
All comparative studies assessing the occurrence of neurodevelopmental outcomes after epilepsy-indicated lamotrigine monotherapy exposure during pregnancy were searched. First, references were identified through a snowballing approach, then, through electronic databases (Medline and Embase) from 2015 to June 2022. One investigator evaluated study eligibility and extracted data and a second independent investigator reviewed the meta-analysis (MA). A systematic review and random-effects model approach were performed using a collaborative WEB-based meta-analysis platform (metaPreg.org) with a registered protocol (osf.io/u4gva).
RESULTS
Overall, 18 studies were included. For outcomes reported by at least 4 studies, the pooled odds ratios and 95% confidence interval obtained with the number of exposed (N1) and unexposed children (N0) included were: neurodevelopmental disorders as a whole 0.84 [0.66;1.06] (N1 = 5,271; N0 = 22,230); language disorders or delay 1.16 [0.67;2.00] (N1 = 313; N0 = 506); diagnosis or risk of ASD 0.97 [0.61;1.53] (N1 = at least 5,262; N0 = 33,313); diagnosis or risk of ADHD 1.14 [0.75;1.72] (N1 = at least 113; N0 = 11,530) and psychomotor developmental disorders or delay 2.68 [1.29-5.56] (N1 = 163; N0 = 220). The MA of cognitive outcomes included less than 4 studies and retrieved a significant association for infants exposed to lamotrigine younger than 3 years old but not in the older age groups.
CONCLUSION
Prenatal exposure to lamotrigine monotherapy is not found to be statistically associated with neurodevelopmental disorders as a whole, language disorders or delay, diagnosis or risk of ASD and diagnosis or risk of ADHD. However, the MA found an increased risk of psychomotor developmental disorders or delay and cognitive developmental delay in less than 3 years old children. Nevertheless, these findings were based exclusively on observational studies presenting biases and on a limited number of included children. More studies should assess neurodevelopmental outcomes in children prenatally exposed to lamotrigine.
Topics: Pregnancy; Child; Infant; Female; Humans; Aged; Child, Preschool; Lamotrigine; Prenatal Exposure Delayed Effects; Anticonvulsants; Epilepsy; Vitamins; Language Disorders
PubMed: 38308208
DOI: 10.1186/s12884-023-06242-9 -
The Journal of Maternal-fetal &... Dec 2023Isolated coronary artery fistula (CAF) is a rare entity in which evidence for both prognosis and need for perinatal treatment is lacking. We aim to evaluate the...
BACKGROUND
Isolated coronary artery fistula (CAF) is a rare entity in which evidence for both prognosis and need for perinatal treatment is lacking. We aim to evaluate the characteristics, evolution and perinatal outcomes of reported cases, including one from our center.
MATERIAL AND METHODS
We performed a systematic review in Medline, Pubmed, and Embase databases for cohort studies or case series related to prenatally diagnosed isolated congenital CAF according to PRISMA guidelines. The search was restricted to articles published until January 2022, including a case report from our center. A descriptive analysis was performed, and perinatal characteristics were dichotomized by outcome (development of symptoms, as well as the need for surgery during the neonatal period). Strength of association between prenatal variables and outcome was evaluated through Odds Ratio.
RESULTS
Only 27 cases of prenatal diagnosis of isolated CAF have been published, including our patient. Most had their origin in the right coronary artery (63%) and drained in the right ventricle (55.6%). Most cases (72%) developed progressive intrauterine dilation of the fistulous tract, which was usually associated with symptoms of cardiac overload, such as cardiomegaly (57.7%). Up to two-thirds of prenatally diagnosed patients developed heart failure symptoms in the neonatal period, and 84% required postnatal intervention. Prenatal diagnosis of both cardiomegaly and diastolic steal is associated with an OR of 52 and 41 of developing postnatal symptoms.
CONCLUSION
Prenatal diagnosis of isolated CAF can be achieved with adequate tools and trained sonographers. The development of cardiomegaly and diastolic steal significantly increases the risk of developing postnatal symptoms.
Topics: Infant, Newborn; Pregnancy; Female; Humans; Coronary Vessels; Prognosis; Prenatal Diagnosis; Heart Defects, Congenital; Fistula; Cardiomegaly; Vascular Diseases
PubMed: 37121905
DOI: 10.1080/14767058.2023.2206938 -
Ultrasound in Obstetrics & Gynecology :... Apr 2021To report the outcome of fetuses with congenital cytomegalovirus (CMV) infection and normal ultrasound at the time of diagnosis, and to evaluate the rate of an... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To report the outcome of fetuses with congenital cytomegalovirus (CMV) infection and normal ultrasound at the time of diagnosis, and to evaluate the rate of an additional anomaly detected only on magnetic resonance imaging (MRI).
METHODS
Medline, EMBASE, CINAHL and Cochrane databases were searched for studies reporting on the outcome of fetuses with congenital CMV infection. Inclusion criteria were fetuses with confirmed CMV infection and normal ultrasound assessment at the time of the initial evaluation. The outcomes observed were an anomaly detected on a follow-up ultrasound scan, an anomaly detected on prenatal MRI but missed on ultrasound, an anomaly detected on postnatal assessment but missed prenatally, perinatal mortality, symptomatic infection at birth, neurodevelopmental outcome and hearing and visual deficits. Neurodevelopmental outcome was assessed only in cases of isolated CMV infection confirmed at birth. Subgroup analysis was performed according to the trimester in which maternal infection occurred. Random-effects meta-analysis of proportions was used to analyze the data.
RESULTS
Twenty-six studies were included, comprising 2603 fetuses with congenital CMV infection, of which 1178 (45.3%) had normal ultrasound at the time of diagnosis and were included in the analysis. The overall rate of an associated central nervous system (CNS) anomaly detected on a follow-up ultrasound scan was 4.4% (95% CI, 1.4-8.8%) (32/523; 15 studies), while the rates of those detected exclusively on prenatal MRI or on postnatal imaging were 5.8% (95% CI, 1.9-11.5%) (19/357; 11 studies) and 3.2% (95% CI, 0.3-9.0%) (50/660; 17 studies), respectively. The rate of an associated extra-CNS anomaly detected on a follow-up ultrasound scan was 2.9% (95% CI, 0.8-6.3%) (19/523; 15 studies), while the rates of those detected exclusively on MRI or on postnatal imaging were 0% (95% CI, 0.0-1.7%) (0/357; 11 studies) and 0.9% (95% CI, 0.3-1.8%) (4/660; 17 studies), respectively. Intrauterine death and perinatal death each occurred in 0.7% (95% CI, 0.3-1.4%) (2/824; 23 studies) of cases. In cases without an associated anomaly detected pre- or postnatally, symptomatic infection was found in 1.5% (95% CI, 0.7-2.7%) (6/548; 19 studies) of infants, the overall rate of a neurodevelopmental anomaly was 3.1% (95% CI, 1.6-5.1%) (16/550; 19 studies), and hearing problems affected 6.5% (95% CI, 3.8-10.0%) (36/550; 19 studies) of children. Subanalyses according to the trimester in which maternal infection occurred were affected by the very small number of included cases and lack of comparison of the observed outcomes in the original studies. Compared with fetuses infected in the second or third trimester, those infected in the first trimester had a relatively higher risk of having an additional anomaly detected on follow-up ultrasound or MRI, abnormal neurodevelopmental outcome and hearing problems.
CONCLUSIONS
In fetuses with congenital CMV infection in which no anomalies are detected on prenatal ultrasound or MRI, the risk of adverse postnatal outcome is lower than that reported previously in the published literature when not considering the role of antenatal imaging assessment. The results from this review also highlight the potential role of MRI, even in fetuses with no anomalies detected on ultrasound, as an anomaly can be detected exclusively on MRI in about 6% of cases. The findings from this study could enhance prenatal counseling of pregnancies with congenital CMV infection with normal prenatal imaging. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Adult; Cytomegalovirus; Cytomegalovirus Infections; Female; Fetus; Humans; Magnetic Resonance Imaging; Nervous System Malformations; Pregnancy; Pregnancy Complications, Infectious; Pregnancy Outcome; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 33030767
DOI: 10.1002/uog.23143 -
Endocrine Disrupting Chemicals and Risk of Testicular Cancer: A Systematic Review and Meta-analysis.The Journal of Clinical Endocrinology... Nov 2021The incidence of many hormone-dependent diseases, including testicular cancer, has sharply increased in all high-income countries during the 20th century. This is not... (Meta-Analysis)
Meta-Analysis
The incidence of many hormone-dependent diseases, including testicular cancer, has sharply increased in all high-income countries during the 20th century. This is not fully explained by established risk factors. Concurrent, increasing exposure to antiandrogenic environmental endocrine disrupting chemicals (EDCs) in fetal life may partially explain this trend. This systematic review assessed available evidence regarding the association between environmental EDC exposure and risk of testicular cancer (seminomas and nonseminomas). Following PRISMA guidelines, a search of English peer-reviewed literature published prior to December 14, 2020 in the databases PubMed and Embase® was performed. Among the 279 identified records, 19 were eligible for quality assessment and 10 for further meta-analysis. The completeness of reporting was high across papers, but over 50% were considered subject to potential risk of bias. Mean age at diagnosis was 31.9 years. None considered effects of EDC multipollutant mixtures. The meta-analyses showed that maternal exposure to combined EDCs was associated with a higher risk of testicular cancer in male offspring [summary risk ratios: 2.16, (95% CI:1.78-2.62), 1.93 (95% CI:1.49-2.48), and 2.78 (95% CI:2.27-3.41) for all, seminoma, and nonseminoma, respectively]. Similarly, high maternal exposures to grouped organochlorines and organohalogens were associated with higher risk of seminoma and nonseminoma in the offspring. Summary estimates related to postnatal adult male EDC exposures were inconsistent. Maternal, but not postnatal adult male, EDC exposures were consistently associated with a higher risk of testicular cancer, particularly risk of nonseminomas. However, the quality of studies was mixed, and considering the fields complexity, more prospective studies of prenatal EDC multipollutant mixture exposures and testicular cancer are needed.
Topics: Endocrine Disruptors; Environmental Exposure; Humans; Male; Prognosis; Risk Factors; Testicular Neoplasms
PubMed: 34270734
DOI: 10.1210/clinem/dgab523 -
Ultrasound in Obstetrics & Gynecology :... Jul 2021Fetal anomalies of the corpus callosum (CC) have been reported in the prenatal imaging literature since 1985, and, especially when isolated, pose challenges for both the...
OBJECTIVE
Fetal anomalies of the corpus callosum (CC) have been reported in the prenatal imaging literature since 1985, and, especially when isolated, pose challenges for both the patient and fetal medicine specialist. The purpose of this study was to review systematically the literature on prenatally diagnosed abnormalities of the CC, focusing on the terminology used to describe abnormalities other than complete agenesis of the CC, and to assess the heterogeneity of the nomenclature and definitions used.
METHODS
This study was conducted in accordance with the PRISMA statement for reporting systematic reviews. A literature search was performed to identify prospective or retrospective case series or cohort studies, published in English, French, Italian, German or Spanish, reporting fetal imaging findings and describing anomalies of the CC. Quality and risk of bias of the studies were evaluated using the Newcastle-Ottawa scale and a modification of the scale developed by Conde-Agudelo et al. for other fetal imaging studies. The data extracted included the number of patients, the number of different anomalies identified, the descriptive names of the anomalies, and, where applicable, the definitions of the anomalies, the number of cases of each type of anomaly and the biometric charts used. Secondary tests used to confirm the diagnosis, as well as the postnatal or post-termination tests used to ascertain the diagnosis, were also recorded.
RESULTS
The search identified 998 records, and, after review of titles and abstracts and full review of 45 papers, 27 studies were included initially in the review, of which 24 were included in the final analysis. These 24 studies had a broad range of quality and risk of bias and represented 1135 cases of CC anomalies, of which 49% were complete agenesis and the remainder were described using the term partial agenesis or nine other terms, of which five had more than one definition.
CONCLUSIONS
In comparison to the postnatal literature, in the prenatal literature there is much greater heterogeneity in the nomenclature and definition of CC anomalies other than complete agenesis. This heterogeneity and lack of standard definitions in the prenatal literature make it difficult to develop large multicenter pooled cohorts of patients who can be followed in order to develop a better understanding of the genetic associations and neurodevelopmental and psychological outcomes of patients with CC anomalies. As this information is important to improve counseling of these patients, a good first step towards this goal would be to develop a simpler categorization of prenatal CC anomalies that matches better the postnatal literature. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Agenesis of Corpus Callosum; Corpus Callosum; Female; Fetus; Humans; Pregnancy; Prenatal Diagnosis; Prospective Studies; Retrospective Studies; Terminology as Topic
PubMed: 32798278
DOI: 10.1002/uog.22179 -
Genetics in Medicine : Official Journal... Jan 2021Hydrops fetalis (HF), accumulation of fluid in two or more fetal compartments, is life-threatening to the fetus. Genetic etiologies include many chromosomal and...
Hydrops fetalis (HF), accumulation of fluid in two or more fetal compartments, is life-threatening to the fetus. Genetic etiologies include many chromosomal and monogenic disorders. Despite this, the clinical workup typically evaluates limited genetic targets. To support broader molecular testing of pregnancies with HF, we cataloged the spectrum of monogenic disorders associated with nonimmune hydrops fetalis (NIHF). We performed a systematic literature review under PROSPERO tag CRD42018099495 of cases reporting NIHF meeting strict phenotypic criteria and well-defined genetic diagnosis. We ranked the evidence per gene based on number of reported cases, phenotype, and molecular/biochemical diagnosis. We identified 131 genes with strong evidence for an association with NIHF and 46 genes with emerging evidence spanning the spectrum of multisystem syndromes, cardiac disorders, hematologic disorders, and metabolic disorders. Several genes previously implicated with NIHF did not have any reported cases in the literature with both fetal hydrops and molecular diagnosis. Many genes with strong evidence for association with NIHF would not be detected using current sequencing panels. Nonimmune HF has many possible monogenic etiologies, several with treatment implications, but current diagnostic approaches are not exhaustive. Studies are needed to assess if broad sequencing approaches like exome sequencing are useful in clinical management of HF.
Topics: Female; Fetus; Humans; Hydrops Fetalis; Pregnancy; Prenatal Care; Exome Sequencing
PubMed: 33082562
DOI: 10.1038/s41436-020-00967-0