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Journal of Medical Ultrasound 2022Children born with clefts encounter various postnatal issues which have a negative impact and long-term psychological effects on both the parents and themselves. This... (Review)
Review
Children born with clefts encounter various postnatal issues which have a negative impact and long-term psychological effects on both the parents and themselves. This systematic review aims to find the accuracy of two-dimensional (2D)/3D scans for screening cleft lip and palate which would help the parents to be mentally and psychologically prepared to plan for future surgeries. To identify relevant literature, an electronic search was performed using PubMed, Trip database, Cochrane, and Google Scholar database. The search yielded 927 articles, of which 10 fulfilled the eligibility criteria and were included in this systematic review. These studies showed that the combination of 2D and 3D ultrasound scans has increased the specificity and sensitivity in detecting orofacial clefts, as they aid in improved visualization of the fetal face. However, in future, the visualization of the palate can be improved by inventing other modified views as cleft palate diagnosis is more prone to error.
PubMed: 36484047
DOI: 10.4103/jmu.jmu_20_22 -
Ultrasound in Obstetrics & Gynecology :... Jan 2011Array comparative genomic hybridization (CGH) is transforming clinical cytogenetics with its ability to interrogate the human genome at increasingly high resolution. The... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
Array comparative genomic hybridization (CGH) is transforming clinical cytogenetics with its ability to interrogate the human genome at increasingly high resolution. The aim of this study was to determine whether array CGH testing in the prenatal population provides diagnostic information over conventional karyotyping.
METHODS
MEDLINE (1970 to December 2009), EMBASE (1980 to December 2009) and CINAHL (1982 to December 2009) databases were searched electronically. Studies were selected if array CGH was used on prenatal samples or if array CGH was used on postnatal samples following termination of pregnancy for structural abnormalities that were detected on an ultrasound scan. Of the 135 potential articles, 10 were included in this systematic review and eight were included in the meta-analysis. The pooled rate of extra information detected by array CGH when the prenatal karyotype was normal was meta-analyzed using a random-effects model. The pooled rate of receiving an array CGH result of unknown significance was also meta-analyzed.
RESULTS
Array CGH detected 3.6% (95% CI, 1.5-8.5) additional genomic imbalances when conventional karyo-typing was 'normal', regardless of referral indication. This increased to 5.2% (95% CI, 1.9-13.9) more than karyotyping when the referral indication was a structural malformation on ultrasound.
CONCLUSIONS
There appears to be an increased detection rate of chromosomal imbalances, compared with conventional karyotyping, when array CGH techniques are employed in the prenatal population. However, some are copy number imbalances that are not clinically significant. This carries implications for prenatal counseling and maternal anxiety.
Topics: Chromosome Aberrations; Chromosome Disorders; Comparative Genomic Hybridization; Female; Genome, Human; Humans; Karyotyping; Oligonucleotide Array Sequence Analysis; Pregnancy; Prenatal Diagnosis
PubMed: 20658510
DOI: 10.1002/uog.7754 -
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 -
Fetal Diagnosis and Therapy 2019Fetal subdural haematoma (SDH) is associated with poor prognosis.
BACKGROUND
Fetal subdural haematoma (SDH) is associated with poor prognosis.
OBJECTIVE
The conflicting evidence from the literature presents a challenge in prenatal counselling. We present a case study and systematic review of the literature for the management and outcome of fetal SDH.
METHODS
Systematic search of electronic database.
RESULTS
A total 45 cases were extracted from 39 papers. Prenatal ultrasonographic features were intracranial echogenicity (42%), lateral ventriculomegaly (38%), presence of an intracranial mass (31%), macrocephaly (24%), midline deviation of cerebral falx (20%), and intracranial fluid collection (11%). Further secondary features were noted including reversed diastolic flow in the middle cerebral artery (11%), echogenic bowel (4%), hydrops fetalis (2%), and elevated middle cerebral artery peak systolic velocity (2%) (all highly likely to be associated with fetal anaemia). The rates of termination of pregnancy, stillbirth, and neonatal death were 18% (8/45), 16% (7/45), and 11% (5/45), respectively. Overall, therefore, the fetal and perinatal mortality was 32% (12/37). Amongst the 24 survivors with available neurological outcome, 42% (10/24) and 58% (14/24) had abnormal and normal neurological outcome, respectively. Underlying aetiology of fetal SDH was not identified in 47% (21/45). Fetal SDH with an identifiable underlying aetiology was the only factor associated with a higher chance of normal neurological outcome when compared to fetal SDH without a detectable cause (78.5 vs. 21.4%, p = 0.035).
CONCLUSIONS
Stillbirth and neonatal death occurred in a significant proportion of fetal SDH. 58% of survivors had normal neurological outcome, and better prognosis was seen in SDH with identifiable underlying aetiology.
Topics: Adult; Fatal Outcome; Female; Fetal Membranes, Premature Rupture; Gestational Age; Hematoma, Subdural; Humans; Magnetic Resonance Imaging; Obstetric Labor, Premature; Predictive Value of Tests; Pregnancy; Risk Factors; Stillbirth; Ultrasonography, Prenatal
PubMed: 30861511
DOI: 10.1159/000496202 -
Journal of Medical Internet Research Mar 2023Increasing prenatal screening options and limited consultation time have made it difficult for pregnant women to participate in shared decision-making. Interactive... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Increasing prenatal screening options and limited consultation time have made it difficult for pregnant women to participate in shared decision-making. Interactive digital decision aids (IDDAs) could integrate interactive technology into health care to a facilitate higher-quality decision-making process.
OBJECTIVE
The objective of this study was to assess the effectiveness of IDDAs on pregnant women's decision-making regarding prenatal screening.
METHODS
We searched Cochrane Central Register of Controlled Trials, MEDLINE, Embase, PsycINFO, World Health Organization International Clinical Trials Registry Platform, Google Scholar, and reference lists of included studies until August 2021. We included the randomized controlled trials (RCTs) that compared the use of IDDAs (fulfilling basic criteria of International Patient Decision Aid Standards Collaboration and these were interactive and digital) as an adjunct to standard care with standard care alone and involved pregnant women themselves in prenatal screening decision-making. Data on primary outcomes, that is, knowledge and decisional conflict, and secondary outcomes were extracted, and meta-analyses were conducted based on standardized mean differences (SMDs). Subgroup analysis based on knowledge was performed. The Cochrane risk-of-bias tool was used for risk-of-bias assessment.
RESULTS
Eight RCTs were identified from 10,283 references, of which 7 were included in quantitative synthesis. Analyses showed that IDDAs increased knowledge (SMD 0.58, 95% CI 0.26-0.90) and decreased decisional conflict (SMD -0.15, 95% CI -0.25 to -0.05). Substantial heterogeneity in knowledge was identified, which could not be completely resolved through subgroup analysis.
CONCLUSIONS
IDDAs can improve certain aspects of decision-making in prenatal screening among pregnant women, but the results require cautious interpretation.
Topics: Pregnancy; Female; Humans; Decision Support Techniques; Prenatal Diagnosis; Patient Participation
PubMed: 36917146
DOI: 10.2196/37953 -
European Radiology Jun 2017This systematic review was undertaken to define the diagnostic performance of in utero MR (iuMR) imaging when attempting to confirm, exclude or provide additional... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
This systematic review was undertaken to define the diagnostic performance of in utero MR (iuMR) imaging when attempting to confirm, exclude or provide additional information compared with the information provided by prenatal ultrasound scans (USS) when there is a suspicion of foetal brain abnormality.
METHODS
Electronic databases were searched as well as relevant journals and conference proceedings. Reference lists of applicable studies were also explored. Data extraction was conducted by two reviewers independently to identify relevant studies for inclusion in the review. Inclusion criteria were original research that reported the findings of prenatal USS and iuMR imaging and findings in terms of accuracy as judged by an outcome reference diagnosis for foetal brain abnormalities.
RESULTS
34 studies met the inclusion criteria which allowed diagnostic accuracy to be calculated in 959 cases, all of which had an outcome reference diagnosis determined by postnatal imaging, surgery or autopsy. iuMR imaging gave the correct diagnosis in 91 % which was an increase of 16 % above that achieved by USS alone.
CONCLUSION
iuMR imaging makes a significant contribution to the diagnosis of foetal brain abnormalities, increasing the diagnostic accuracy achievable by USS alone.
KEY POINTS
• Ultrasound is the primary modality for monitoring foetal brain development during pregnancy • iuMRI used together with ultrasound is more accurate for detecting foetal brain abnormalities • iuMR imaging is most helpful for detecting midline brain abnormalities • The moderate heterogeneity of reviewed studies may compromise findings.
Topics: Autopsy; Brain; Cohort Studies; Female; Fetus; Gestational Age; Humans; Magnetic Resonance Imaging; Pregnancy; Prenatal Diagnosis; Sensitivity and Specificity; Ultrasonography, Prenatal
PubMed: 27655301
DOI: 10.1007/s00330-016-4563-4 -
JAMA Aug 2011Noninvasive prenatal determination of fetal sex using cell-free fetal DNA provides an alternative to invasive techniques for some heritable disorders. In some countries... (Meta-Analysis)
Meta-Analysis Review
CONTEXT
Noninvasive prenatal determination of fetal sex using cell-free fetal DNA provides an alternative to invasive techniques for some heritable disorders. In some countries this testing has transitioned to clinical care, despite the absence of a formal assessment of performance.
OBJECTIVE
To document overall test performance of noninvasive fetal sex determination using cell-free fetal DNA and to identify variables that affect performance.
DATA SOURCES
Systematic review and meta-analysis with search of PubMed (January 1, 1997-April 17, 2011) to identify English-language human studies reporting primary data. References from review articles were also searched.
STUDY SELECTION AND DATA EXTRACTION
Abstracts were read independently to identify studies reporting primary data suitable for analysis. Covariates included publication year, sample type, DNA amplification methodology, Y chromosome sequence, and gestational age. Data were independently extracted by 2 reviewers.
RESULTS
From 57 selected studies, 80 data sets (representing 3524 male-bearing pregnancies and 3017 female-bearing pregnancies) were analyzed. Overall performance of the test to detect Y chromosome sequences had the following characteristics: sensitivity, 95.4% (95% confidence interval [CI], 94.7%-96.1%) and specificity, 98.6% (95% CI, 98.1%-99.0%); diagnostic odds ratio (OR), 885; positive predictive value, 98.8%; negative predictive value, 94.8%; area under curve (AUC), 0.993 (95% CI, 0.989-0.995), with significant interstudy heterogeneity. DNA methodology and gestational age had the largest effects on test performance. Methodology test characteristics were AUC, 0.988 (95% CI, 0.979-0.993) for polymerase chain reaction (PCR) and AUC, 0.996 (95% CI, 0.993-0.998) for real-time quantitative PCR (RTQ-PCR) (P = .02). Gestational age test characteristics were AUC, 0.989 (95% CI, 0.965-0.998) (<7 weeks); AUC, 0.994 (95% CI, 0.987-0.997) (7-12 weeks); AUC, 0.992 (95% CI, 0.983-0.996) (13-20 weeks); and AUC, 0.998 (95% CI, 0.990-0.999) (>20 weeks) (P = .02 for comparison of diagnostic ORs across age ranges). RTQ-PCR (sensitivity, 96.0%; specificity, 99.0%) outperformed conventional PCR (sensitivity, 94.0%; specificity, 97.3%). Testing after 20 weeks (sensitivity, 99.0%; specificity, 99.6%) outperformed testing prior to 7 weeks (sensitivity, 74.5%; specificity, 99.1%), testing at 7 through 12 weeks (sensitivity, 94.8%; specificity, 98.9%), and 13 through 20 weeks (sensitivity, 95.5%; specificity, 99.1%).
CONCLUSIONS
Despite interstudy variability, performance was high using maternal blood. Sensitivity and specificity for detection of Y chromosome sequences was greatest using RTQ-PCR after 20 weeks' gestation. Tests using urine and tests performed before 7 weeks' gestation were unreliable.
Topics: Chromosomes, Human, Y; DNA; Female; Fetus; Humans; Male; Polymerase Chain Reaction; Predictive Value of Tests; Pregnancy; Prenatal Diagnosis; Sensitivity and Specificity; Sequence Analysis, DNA; Sex Determination Analysis
PubMed: 21828326
DOI: 10.1001/jama.2011.1114 -
Clinical Genetics Dec 2021Exome sequencing (ES) enhanced the diagnostic yield of genetic testing, but has also increased the possibility of uncertain findings. Prenatal ES is increasingly being...
Exome sequencing (ES) enhanced the diagnostic yield of genetic testing, but has also increased the possibility of uncertain findings. Prenatal ES is increasingly being offered after a fetal abnormality is detected through ultrasound. It is important to know how to handle uncertainty in this particularly stressful period. This systematic review aimed to provide a comprehensive overview of guidelines available for addressing uncertainty related to prenatal chromosomal microarray (CMA) and ES. Ten uncertainty types associated with prenatal ES and CMA were identified and defined by an international multidisciplinary team. Medline (all) and Embase were systematically searched. Laboratory scientists, clinical geneticists, psychologists, and a fetal medicine specialist screened the papers and performed the data extraction. Nineteen papers were included. Recommendations generally emphasized the importance of trio analysis, clinical information, data sharing, validation and re-analysis, protocols, multidisciplinary teams, genetic counselling, whether to limit the possible scope of results, and when to report particular findings. This systematic review helps provide a vocabulary for uncertainties, and a compass to navigate uncertainties. Prenatal CMA and ES guidelines provide a strong starting point for determining how to handle uncertainty. Gaps in guidelines and recommendations were identified and discussed to provide direction for future research and policy making.
Topics: Clinical Decision-Making; Disease Management; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genomics; Health Policy; Humans; Practice Guidelines as Topic; Pregnancy; Prenatal Diagnosis; Uncertainty
PubMed: 34155632
DOI: 10.1111/cge.14010 -
Ultrasound in Obstetrics & Gynecology :... Jul 2017To explore the outcome of fetuses with a prenatal diagnosis of ovarian cyst. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To explore the outcome of fetuses with a prenatal diagnosis of ovarian cyst.
METHODS
The electronic databases MEDLINE and EMBASE were searched using keywords and word variants for 'ovarian cysts', 'ultrasound' and 'outcome'. The following outcomes in fetuses with a prenatal diagnosis of ovarian cyst were explored: resolution of the cyst, change of ultrasound pattern of the cyst, occurrence of ovarian torsion and intracystic hemorrhage, need for postnatal surgery, need for oophorectomy, accuracy of prenatal ultrasound examination in correctly identifying ovarian cyst, type of ovarian cyst at histopathological analysis and intrauterine treatment. Meta-analyses using individual data random-effects logistic regression and meta-analyses of proportions were performed. Quality assessment of the included studies was performed using the Newcastle-Ottawa Scale.
RESULTS
Thirty-four studies (954 fetuses) were included. In 53.8% (95% CI, 46.0-61.5%) of cases for which resolution of the cyst was evaluated (784 fetuses), the cyst regressed either during pregnancy or after birth. The likelihood of resolution was significantly lower in complex vs simple cysts (odds ratio (OR), 0.15 (95% CI, 0.10-0.23)) and in cysts measuring ≥ 40 mm vs < 40 mm (OR, 0.03 (95% CI, 0.01-0.06)). Change in ultrasound pattern of the cyst was associated with an increased risk of ovarian loss (surgical removal or autoamputation) (pooled proportion, 57.7% (95% CI, 42.9-71.8%)). The risk of ovarian torsion was significantly higher for cysts measuring ≥ 40 mm compared with < 40 mm (OR, 30.8 (95% CI, 8.6-110.0)). The likelihood of having postnatal surgery was higher in patients with cysts ≥ 40 mm compared with < 40 mm (OR, 64.4 (95% CI, 23.6-175.0)) and in complex compared with simple cysts, irrespective of cyst size (OR, 14.6 (95% CI, 8.5-24.8)). In cases undergoing prenatal aspiration of the cyst, rate of recurrence was 37.9% (95% CI, 14.8-64.3%), ovarian torsion and intracystic hemorrhage were diagnosed after birth in 10.8% (95% CI, 4.4-19.7%) and 12.8% (95% CI, 3.8-26.0%), respectively, and 21.8% (95% CI, 0.9-40.0%) had surgery after birth.
CONCLUSION
Size and ultrasound appearance are the major determinants of perinatal outcome in fetuses with ovarian cysts. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.
Topics: Female; Humans; Ovarian Cysts; Predictive Value of Tests; Pregnancy; Ultrasonography, Prenatal
PubMed: 27325566
DOI: 10.1002/uog.16002 -
American Journal of Preventive Medicine Apr 2014Exposure to elevated concentrations of traffic-related air pollutants in the near-road environment is associated with numerous adverse human health effects, including... (Meta-Analysis)
Meta-Analysis Review
CONTEXT
Exposure to elevated concentrations of traffic-related air pollutants in the near-road environment is associated with numerous adverse human health effects, including childhood cancer, which has been increasing since 1975. Results of individual epidemiologic studies have been inconsistent. Therefore, a meta-analysis was performed to examine the association between residential traffic exposure and childhood cancer.
EVIDENCE ACQUISITION
Studies published between January 1980 and July 2011 were retrieved from a systematic search of 18 bibliographic databases. Nine studies meeting the inclusion criteria were identified. Weighted summary ORs were calculated using a random effects model for outcomes with four or more studies. Subgroup and sensitivity analyses were performed.
EVIDENCE SYNTHESIS
Childhood leukemia was positively associated (summary OR=1.53, 95% CI=1.12, 2.10) with residential traffic exposure among seven studies using a postnatal exposure window (e.g., childhood period or diagnosis address) and there was no association (summary OR=0.92, 95% CI=0.78, 1.09) among four studies using a prenatal exposure window (e.g., pregnancy period or birth address). There were too few studies to analyze other childhood cancer outcomes.
CONCLUSIONS
Current evidence suggests that childhood leukemia is associated with residential traffic exposure during the postnatal period, but not during the prenatal period. Additional well-designed epidemiologic studies that use complete residential history to estimate traffic exposure, examine leukemia subtypes, and control for potential confounding factors are needed to confirm these findings. As many people reside near busy roads, especially in urban areas, precautionary public health messages and interventions designed to reduce population exposure to traffic might be warranted.
Topics: Adolescent; Air Pollutants; Child; Child, Preschool; Environmental Exposure; Female; Housing; Humans; Infant; Leukemia; Motor Vehicles; Pregnancy; Prenatal Exposure Delayed Effects; Risk Assessment
PubMed: 24650845
DOI: 10.1016/j.amepre.2013.11.004