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Ultrasound in Obstetrics & Gynecology :... Dec 2023Congenital knee dislocation (CKD) is a rare condition, affecting 1 in 100 000 newborns. Its prenatal diagnosis is challenging and not well described in the literature,... (Review)
Review
OBJECTIVES
Congenital knee dislocation (CKD) is a rare condition, affecting 1 in 100 000 newborns. Its prenatal diagnosis is challenging and not well described in the literature, especially when it appears isolated and not as part of a complex malformation or syndromic pattern. The purpose of this study was to provide a comprehensive review of the available literature on the prenatal diagnosis and postnatal outcome of CKD and to summarize the current evidence on this topic.
METHODS
A systematic review of the literature on the prenatal diagnosis of CKD was performed in PubMed, Scopus and EMBASE. A predefined combination of specific keywords was used, focusing on intrauterine manifestations, diagnostic methods, prenatal behavior, postnatal treatment and neonatal outcome as well as long-term outcome in terms of ambulation, motion and joint stability. The quality of studies was assessed using the National Institutes of Health tool for quality assessment of case series. A summary of results was carried out providing proportions and rates of diagnostic and prognostic features associated with this rare condition.
RESULTS
In total, 20 cases were retrieved for analysis, of which 19 were obtained from the identified eligible studies (n = 16) and one was an unpublished case from our center. The median gestational age at prenatal diagnosis, which was made using ultrasound in most cases, was 20 weeks (range, 14-38 weeks). Bilaterality was observed in 11/20 (55%) cases. The condition was isolated in 7/20 (35%) cases and associated with other anomalies in 13/20 (65%) cases. An association was observed with oligohydramnios (4/20 (20%)), and an invasive procedure was performed in 13/20 (65%) cases, including 11 cases with an invasive procedure performed for diagnostic purposes. Genetic testing was normal in all isolated cases for which information was available (4/7), while a genetic syndrome was present in 10/13 (77%) non-isolated cases (Larsen, Noonan, Grebe, Desbuquois or Escobar syndrome). There were seven terminations of pregnancy, of which six were performed in cases with associated anomalies and one in an isolated case, 11 cases of postnatal survival, one case of intrauterine death and one of neonatal death. The fetal and neonatal deaths occurred in cases with associated anomalies or abnormal genetic findings. Postnatal treatment was mostly conservative, with only two reports (18% of the 11 surviving neonates) of surgical intervention, both in cases with associated anomalies. Postnatal follow-up was up to 1 year in most cases, and motor outlook appeared normal in all isolated cases.
CONCLUSIONS
CKD is a rare fetal anomaly with a prenatal diagnosis achievable from the early second trimester, for which a favorable outcome can be expected when no associated anomalies are present. Prenatal diagnosis should include detailed ultrasound assessment and amniocentesis for extensive genetic studies, particularly in non-isolated cases. Early postnatal treatment achieves success in most cases without surgical intervention and leads to a normal motor outlook. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Female; Humans; Infant, Newborn; Pregnancy; Fetus; Genetic Testing; Prenatal Diagnosis; Renal Insufficiency, Chronic; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 37289939
DOI: 10.1002/uog.26283 -
Ultrasound in Obstetrics & Gynecology :... Jan 2024Type-III vasa previa (VP) is a rare form of VP, not necessarily associated with other placental or vascular anomalies, in which aberrant vessels run from the placenta to... (Review)
Review
OBJECTIVE
Type-III vasa previa (VP) is a rare form of VP, not necessarily associated with other placental or vascular anomalies, in which aberrant vessels run from the placenta to the amniotic membranes, near the internal cervical os, before returning to the placenta. Early diagnosis of Type-III VP is important but technically challenging. The objective of this study was to gather the current available evidence on the perinatal diagnosis and outcome of Type-III VP.
METHODS
A systematic review of the literature on the perinatal diagnosis of atypical Type-III VP was carried out in PubMed, MEDLINE and EMBASE accordingto PRISMA guidelines from inception to March 2023. Data extraction and tabulation were performed by two operators and checked by a third senior author. The quality of the included studies was evaluated using the National Institutes of Health tool for the quality assessment of case-series studies. Our local ultrasound database was searched for previously unreported recent cases. Characteristics of prenatally and postnatally diagnosed Type-III VP, including clinical features and perinatal outcomes, were summarized using descriptive statistics.
RESULTS
Eighteen cases of Type-III VP were included, of which 16 were diagnosed prenatally (14 cases were retrieved from 10 publications and two were unpublished cases from our center) and two were diagnosed postnatally (retrieved from two publications). All prenatal cases were diagnosed on transvaginal ultrasound at a mean gestational age of 29 weeks (median, 31 weeks; range, 19-38 weeks). Conception was achieved with in-vitro fertilization in 4/16 (25.0%) cases. There were no prenatal symptoms in 15/18 (83.3%) cases, while in two (11.1%) cases there was vaginal bleeding and in one (5.6%) preterm labor occurred. In 15/18 (83.3%) cases, at least one placental abnormality was observed, including low-lying insertion (9/17), succenturiate or accessory lobe (1/17), velamentous cord insertion (3/18) and marginal insertion (9/18). All prenatally diagnosed cases were liveborn and were delivered by Cesarean section before rupture of membranes at a median gestational age of 35 weeks (range, 32-38 weeks) without neonatal complications. Emergency Cesarean section was performed in 2/16 (12.5%) cases with a prenatal diagnosis and 1/2 (50.0%) cases with a postnatal diagnosis (P = 0.179). Among those with data available, an Apgar score of ≤ 7 was observed in the prenatally vs postnatally diagnosed group in 5/13 vs 1/1 cases, respectively, at the 1-min evaluation and 3/13 vs 1/1 cases, respectively, at the 5-min evaluation.
CONCLUSIONS
The prenatal diagnosis of Type-III VP is challenging, with few cases reported in the literature; however, it is crucial for minimizing the risk of adverse outcome by enabling early-term elective Cesarean delivery prior to rupture of membranes. Given that clinical manifestations and risk factors are non-specific, and that Type-III VP cannot be excluded when there is a normal cord insertion or a singular placental mass, systematic screening by transvaginal ultrasound in the general pregnant population is recommended, particularly in those with a low-lying or morphologically abnormal placenta and those who conceived using assisted reproductive technology. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Female; Humans; Infant, Newborn; Pregnancy; Cesarean Section; Placenta; Placenta Diseases; Prenatal Diagnosis; Ultrasonography, Prenatal; Vasa Previa
PubMed: 37470694
DOI: 10.1002/uog.26315 -
Nicotine & Tobacco Research : Official... Aug 2023Almost half of the world's children experience passive smoking, which is linked to numerous oral health conditions. The aim is to synthesize data on the impact of...
INTRODUCTION
Almost half of the world's children experience passive smoking, which is linked to numerous oral health conditions. The aim is to synthesize data on the impact of passive smoking on oral health of infants, preschoolers, and children.
AIMS AND METHODS
A search was conducted across Medline (via EBSCOhost), PubMed, and Scopus up to February 2023. Risk of bias was assessed according to the Newcastle-Ottawa Scale (NOS).
RESULTS
The initial search produced 1221 records and after removal of duplicates, screening by title and abstract, and full-text assessment, 25 studies were eligible for review and data extraction. The majority of studies (94.4%) found a correlation between passive smoking and increased prevalence of dental caries with three studies suggesting a dose-response relationship. Prenatal passive smoking exposure in 81.8% of studies indicated an increased dental caries experience compared to postnatal exposure. Low parental education, socioeconomic status, dietary habits, oral hygiene, and gender affected the level of environmental tobacco smoke (ETS) exposure and dental caries risk.
CONCLUSIONS
The results of this systematic review strongly suggest a significant association between dental caries in the deciduous dentition and passive smoking. Early intervention and education on the effects of passive smoking on infants and children will allow for the improvement in oral health outcomes and reduction in smoking-associated systemic conditions. The results justify all health professionals paying more attention to passive smoking when conducting pediatric patient histories, contributing to improved diagnosis and appropriate treatment planning with more suitable follow-up schedules.
IMPLICATIONS
The evidence from this review that environmental tobacco smoke and passive smoking is a risk factor for oral health conditions, both prenatally and postnatally during early childhood, justifies all health professionals paying more attention to passive smoking when conducting pediatric patient histories. Early intervention and appropriate parental education regarding the effects of secondhand smoke on infants and children will allow for the minimization of dental caries, improvement in oral health outcomes and overall reduction in smoking-associated systemic conditions for the children exposed.
Topics: Female; Pregnancy; Child; Infant; Child, Preschool; Humans; Tobacco Smoke Pollution; Oral Health; Dental Caries; Risk Factors; Parents
PubMed: 37311007
DOI: 10.1093/ntr/ntad093 -
Prevention Science : the Official... May 2024Exposure to certain chemicals prenatally and in childhood can impact development and may increase risk for attention-deficit/hyperactivity disorder (ADHD). Leveraging a... (Meta-Analysis)
Meta-Analysis Review
Exposure to certain chemicals prenatally and in childhood can impact development and may increase risk for attention-deficit/hyperactivity disorder (ADHD). Leveraging a larger set of literature searches conducted to synthesize results from longitudinal studies of potentially modifiable risk factors for childhood ADHD, we present meta-analytic results from 66 studies that examined the associations between early chemical exposures and later ADHD diagnosis or symptoms. Studies were eligible for inclusion if the chemical exposure occurred at least 6 months prior to measurement of ADHD diagnosis or symptomatology. Included papers were published between 1975 and 2019 on exposure to anesthetics (n = 5), cadmium (n = 3), hexachlorobenzene (n = 4), lead (n = 22), mercury (n = 12), organophosphates (n = 7), and polychlorinated biphenyls (n = 13). Analyses are presented for each chemical exposure by type of ADHD outcome reported (categorical vs. continuous), type of ADHD measurement (overall measures of ADHD, ADHD symptoms only, ADHD diagnosis only, inattention only, hyperactivity/impulsivity only), and timing of exposure (prenatal vs. childhood vs. cumulative), whenever at least 3 relevant effect sizes were available. Childhood lead exposure was positively associated with ADHD diagnosis and symptoms in all analyses except for the prenatal analyses (odds ratios (ORs) ranging from 1.60 to 2.62, correlation coefficients (CCs) ranging from 0.14 to 0.16). Other statistically significant associations were limited to organophosphates (CC = 0.11, 95% confidence interval (CI): 0.03-0.19 for continuous measures of ADHD outcomes overall), polychlorinated biphenyls (CC = 0.08, 95% CI: 0.02-0.14 for continuous measures of inattention as the outcome), and both prenatal and childhood mercury exposure (CC = 0.02, 95% CI: 0.00-0.04 for continuous measures of ADHD outcomes overall for either exposure window). Our findings provide further support for negative impacts of prenatal and/or childhood exposure to certain chemicals and raise the possibility that primary prevention and targeted screening could prevent or mitigate ADHD symptomatology. Furthermore, these findings support the need for regular review of regulations as our scientific understanding of the risks posed by these chemicals evolves.
Topics: Attention Deficit Disorder with Hyperactivity; Humans; Child; Environmental Exposure; Female; Prenatal Exposure Delayed Effects; Pregnancy
PubMed: 38108946
DOI: 10.1007/s11121-023-01601-6 -
The Cleft Palate-craniofacial Journal :... Aug 2023Studies evaluating the ability to diagnose and accurately predict the severity of micrognathia prenatally have yielded inconsistent results. This review aimed to...
OBJECTIVE
Studies evaluating the ability to diagnose and accurately predict the severity of micrognathia prenatally have yielded inconsistent results. This review aimed to evaluate reliability of prenatal diagnostic imaging in the diagnosis and characterization of micrognathia.
DESIGN
Systematic review and meta-analysis.
SETTING
Studies with a prenatal diagnosis of micrognathia via ultrasound with a confirmatory postnatal examination were included. Prenatal severity was defined with and without mandibular measurements. Extent of airway obstruction at birth was defined by level of intervention required. Meta-analyses of proportions and relative risk were performed.
PATIENTS
A total of 16 studies with 2753 neonates were included.
MAIN OUTCOME MEASURES
Primary outcome was the efficacy of characterizing the degree of micrognathia on prenatal imaging as it relates to respiratory obstruction at birth. Secondary outcome was the accuracy of prenatal diagnosis with the utilization of mandibular measurements versus without.
RESULTS
Performing meta-analysis of proportions, the proportion of missed prenatal diagnoses of micrognathia made without mandibular measurements was 11.62% (95%CI 2.58-25.94). Utilizing mandibular measurements, the proportion of cases missed were statistically lower (0.20% [95%CI 0.00-0.70]). Patients determined to have severe micrognathia by prenatal imaging did not have a statistically significant increase in risk for more severe respiratory obstruction at birth (RR 3.13 [95%CI 0.59-16.55], = .180).
CONCLUSION
The proportion micrognathia cases missed when prenatal diagnosis was made without mandibular measurements was over 1 in 10, with mandibular measures improving accuracy. This study highlights the need for a uniform objective criterion to improve prenatal diagnosis and planning for postnatal care.
PubMed: 37525884
DOI: 10.1177/10556656231190525 -
American Journal of Obstetrics &... Sep 2023This study aimed to determine the incremental diagnostic yield of prenatal exome sequencing after negative chromosomal microarray analysis results in prenatally... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
This study aimed to determine the incremental diagnostic yield of prenatal exome sequencing after negative chromosomal microarray analysis results in prenatally diagnosed bilateral severe ventriculomegaly or hydrocephalus; another objective was to categorize the associated genes and variants.
DATA SOURCES
A systematic search was performed to identify relevant studies published until June 2022 using 4 databases (Cochrane Library, Web of Science, Scopus, and MEDLINE).
STUDY ELIGIBILITY CRITERIA
Studies in English reporting on the diagnostic yield of exome sequencing following negative chromosomal microarray analysis results in cases of prenatally diagnosed bilateral severe ventriculomegaly were included.
METHODS
Authors of cohort studies were contacted for individual participant data, and 2 studies provided their extended cohort data. The incremental diagnostic yield of exome sequencing was assessed for pathogenic/likely pathogenic findings in cases of: (1) all severe ventriculomegaly; (2) isolated severe ventriculomegaly (as the only cranial anomaly); (3) severe ventriculomegaly with other cranial anomalies; and (4) nonisolated severe ventriculomegaly (with extracranial anomalies). To be able to identify all reported genetic associations, the systematic review portion was not limited to any minimal severe ventriculomegaly case numbers; however, for the synthetic meta-analysis, we included studies with ≥3 severe ventriculomegaly cases. Meta-analysis of proportions was done using a random-effects model. Quality assessment of the included studies was performed using the modified STARD (Standards for Reporting of Diagnostic Accuracy Studies) criteria.
RESULTS
A total of 28 studies had 1988 prenatal exome sequencing analyses performed following negative chromosomal microarray analysis results for various prenatal phenotypes; this included 138 cases with prenatal bilateral severe ventriculomegaly. We categorized 59 genetic variants in 47 genes associated with prenatal severe ventriculomegaly along with their full phenotypic description. There were 13 studies reporting on ≥3 severe ventriculomegaly cases, encompassing 117 severe ventriculomegaly cases that were included in the synthetic analysis. Of all the included cases, 45% (95% confidence interval, 30-60) had positive pathogenic/likely pathogenic exome sequencing results. The highest yield was for nonisolated cases (presence of extracranial anomalies; 54%; 95% confidence interval, 38-69), followed by severe ventriculomegaly with other cranial anomalies (38%; 95% confidence interval, 22-57) and isolated severe ventriculomegaly (35%; 95% confidence interval, 18-58).
CONCLUSION
There is an apparent incremental diagnostic yield of prenatal exome sequencing following negative chromosomal microarray analysis results in bilateral severe ventriculomegaly. Although the greatest yield was found in cases of nonisolated severe ventriculomegaly, consideration should also be given to performing exome sequencing in cases of isolated severe ventriculomegaly as the only brain anomaly identified on prenatal imaging.
Topics: Pregnancy; Female; Humans; Exome Sequencing; Hydrocephalus; Cohort Studies
PubMed: 37311485
DOI: 10.1016/j.ajogmf.2023.101048 -
Epidemiologia E Prevenzione 2023genetic testing for cystic fibrosis (CF) has been offered to people with higher risk of being carrier.
BACKGROUND
genetic testing for cystic fibrosis (CF) has been offered to people with higher risk of being carrier.
OBJECTIVES
to assess the effectiveness of population-based CF carrier screening for adults of reproductive age and its optimal organizational features.
DESIGN
systematic review.
SETTING AND PARTICIPANTS
MedLine, Embase, Cochrane Library, CINAHL and LILACS (1990-2022) were searched to retrieve primary and secondary studies on adults (16 years and older), with no clinical indication or genetic risk, eligible for genetic testing for CF carrier status.
MAIN OUTCOMES MEASURES
attitude to screening, uptake of screening offered, informed reproductive choices.
RESULTS
a total of 3,326 records were screened and 292 potentially eligible full-text publications assessed. The review included 71 publications, corresponding to 3 reviews, 40 cohort studies (11 comparative, 29 single-arm), and 6 model studies, published between 1992 and 2021 (median 1998). Only one study compared screening or no screening. This study suggested an association between carrier screening and a lower incidence of CF. Comparative studies examined different approaches for invitation and testing, i.e., settings, target population (individuals/couples, prenatal/preconceptional), how invitations are organized (primary care/maternal hospitals), and format and content of the pre-test information. However, no firm conclusions can be drawn on the impact of these features on informed reproductive choices, uptake, and attitude, because of the limitations of the evidence collected.
CONCLUSIONS
the broad heterogeneity of the studies, methodological weaknesses, and the limited transferability of the results mean there is still uncertainty about the effectiveness of preconceptional and prenatal CF carrier screening in the general population.
Topics: Pregnancy; Female; Adult; Humans; Genetic Carrier Screening; Cystic Fibrosis; Italy; Genetic Testing; Risk Factors
PubMed: 37846447
DOI: 10.19191/EP23.4-5.A612.064 -
Viruses Oct 2023Cytomegalovirus (CMV) infection is a significant health concern affecting numerous expectant mothers across the globe. CMV is the leading cause of health problems and... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
Cytomegalovirus (CMV) infection is a significant health concern affecting numerous expectant mothers across the globe. CMV is the leading cause of health problems and developmental delays among infected infants. Notably, this study examines CMV infection in pregnancy, its management, prevention mechanisms, and treatment options.
METHODS
Specifically, information from the Cochrane Library, PUBMED, Wiley Online, Science Direct, and Taylor Francis databases were reviewed along with additional records identified through the register, the Google Scholar search engine. Based on the search, 21 articles were identified for systematic review.
RESULTS
A total of six randomized controlled trials (RCTs) were utilized for a meta-analytic review. As heterogeneity was substantial, the random effects model was used for meta-analysis. Utilizing the random-effects model, the restricted maximum likelihood (REML) approach, the estimate of effect size (d = -0.479, 95% CI = -0.977 to 0.019, = 0.060) suggests the results are not statistically significant, so it cannot be inferred that the prevention methods used were effective, despite an inverse relationship between treatment and number of infected cases. The findings indicated that several techniques are used to prevent, diagnose, and manage CMV infection during pregnancy, including proper hygiene, ultrasound examination (US), magnetic resonance imaging (MRI), amniocentesis, viremia, hyperimmunoglobulin (HIG), and valacyclovir (VACV).
CONCLUSIONS
The current review has significant implications for addressing CMV infection in pregnancy. Specifically, it provides valuable findings on contemporary management interventions to prevent and treat CMV infection among expectant mothers. Therefore, it allows relevant stakeholders to address these critical health concerns and understand the effectiveness of the proposed prevention and treatment options.
Topics: Pregnancy; Infant; Female; Humans; Pregnancy Complications, Infectious; Cytomegalovirus Infections; Amniocentesis; Infectious Disease Transmission, Vertical
PubMed: 38005820
DOI: 10.3390/v15112142 -
The Journal of Obstetrics and... Jul 2023To identify the additional diagnostic value of CNV-seq over conventional karyotyping on the part of chromosomal abnormalities in prenatal diagnosis. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To identify the additional diagnostic value of CNV-seq over conventional karyotyping on the part of chromosomal abnormalities in prenatal diagnosis.
METHOD
This was a systematic review conducted in accordance with PRISMA criteria. In order to clarify related research, PubMed, Web of Science databases (including Core Collection, BIOSIS Previews, MEDLINE, and so on), The Cochrane Library and Wiley Online Library were searched with the terms: "prenatal diagnosis," "CNV-seq," "karyotyping," published from January 2010 to May 2022. No language restrictions. RenMan 5.4 was used for the meta-analysis.
RESULTS
Eight studies were included in this systemic review and meta-analysis, including 11 091 pregnant women with high-risk pregnancy factors or with structurally abnormal fetus under ultrasound. CNV-seq detected a 2% (95% CI, -0% to 4%) additional chromosomal anomalies over conventional karyotyping in the six series. A 4% (95% CI, 3%-6%) pooled mean incremental yield of pathogenic CNVs by CNV-seq over karyotyping was observed, with a 1%-16% range.
CONCLUSION
CNV-seq, applied in prenatal diagnosis, may detect more chromosomal abnormalities when compared with karyotyping. With the advantages of wide coverage, high throughput, high resolution, no culture, good compatibility, and adjustable sequencing depth, CNV-seq has high application value in prenatal diagnosis.
Topics: Pregnancy; Female; Humans; Karyotyping; Chromosome Aberrations; Prenatal Diagnosis; Chromosome Disorders; Pregnancy, High-Risk; DNA Copy Number Variations
PubMed: 37037422
DOI: 10.1111/jog.15652 -
Effects of online support and social media communities on gestational diabetes: A systematic review.International Journal of Medical... Dec 2023Gestational diabetes mellitus (GDM) is a common complication in pregnancy that can lead to negative maternal and fetal outcomes. Online support interventions have been... (Review)
Review
BACKGROUND
Gestational diabetes mellitus (GDM) is a common complication in pregnancy that can lead to negative maternal and fetal outcomes. Online support interventions have been suggested as a potential tool to improve the management of GDM.
OBJECTIVE
This systematic review aimed to summarize the effectiveness of social media and online support interventions for the management of GDM.
METHODS
We conducted a thorough systematic search across Web of Science, Scopus, and PubMed, following PRISMA guidelines, and supplemented it with a manual search. Our results included both qualitative and quantitative research. We rigorously assessed quantitative studies for bias using ROBINS-I and RoB 2 tools, ensuring the reliability of our findings.
RESULTS
We incorporated a total of 22 studies, which were comprised of ten qualitative and twelve quantitative studies. Online support interventions were found to have a positive impact on promoting self-care and improving healthcare outcomes for women with GDM. Individualized diet and exercise interventions resulted in lower odds of weight gain and GDM diagnosis, while online prenatal education increased breastfeeding rates. In addition, telemedicine options reduced the need for in-person clinical visits and improved patient satisfaction.
CONCLUSIONS
Online support interventions show potential to improve outcomes in patients with GDM in this small literature review. Future research is also necessary to determine the effectiveness of different types of online interventions and identify strategies to improve engagement and the quality of the information provided through online resources.
Topics: Pregnancy; Humans; Female; Diabetes, Gestational; Reproducibility of Results; Social Media; Diet
PubMed: 37907014
DOI: 10.1016/j.ijmedinf.2023.105263