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Ultrasound in Obstetrics & Gynecology :... Apr 2022To perform a systematic review and meta-analysis of the diagnostic test accuracy of ultrasound and magnetic resonance imaging (MRI) and compare the performance of the... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
To perform a systematic review and meta-analysis of the diagnostic test accuracy of ultrasound and magnetic resonance imaging (MRI) and compare the performance of the two modalities in the diagnosis of placenta accreta spectrum (PAS).
METHODS
This was a systematic review conducted following the Cochrane Diagnostic Test Accuracy Reviews guideline. A literature search was performed in five databases: PubMed, EMBASE, PMC, The Cochrane Library and BVS-Bireme between 27 July and 4 August 2020. The search was updated on 18 August 2021. We included observational studies evaluating diagnostic accuracy in women with risk factors for PAS who had undergone both ultrasound and MRI examinations, published in English between 2011 and 2021. Quality Assessment of Diagnostic Accuracy Studies-2 was used to evaluate the quality of the studies. Forest plots for sensitivity and specificity with 95% CIs and receiver-operating-characteristics curves for ultrasound and MRI were constructed.
RESULTS
The literature search identified 266 studies. After reviewing the titles and abstracts of the articles, 51 were selected for full-text review and 17 studies including 1301 women with MRI and ultrasound data available were selected for the meta-analysis. The study population included 457 cases with PAS diagnosed using the gold standard method (intraoperative or histopathological analysis). The overall quality of the evaluated studies was considered satisfactory according to QUADAS-2. The meta-analysis revealed a sensitivity of 0.833 (95% CI, 0.776-0.878) and specificity of 0.834 (95% CI, 0.746-0.897) for ultrasound. For MRI, sensitivity was 0.838 (95% CI, 0.786-0.879) and specificity was 0.831 (95% CI, 0.770-0.878). There was no statistically significant difference between the two modalities. The Cochran's Q values indicated a high level of heterogeneity of sensitivity and specificity of ultrasound and MRI across studies.
CONCLUSIONS
Ultrasound and MRI have similar accuracy in the diagnosis of PAS. These results suggest that, in a setting with a high prevalence of risk factors, the choice of imaging modality for initial screening for PAS should depend on the availability of equipment and the examiner's expertise. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Female; Humans; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Placenta Accreta; Pregnancy; Sensitivity and Specificity; Ultrasonography
PubMed: 35041250
DOI: 10.1002/uog.24861 -
Genes May 2023Skeletal dysplasias are a group of diseases characterized by bone and joint abnormalities, which can be detected during prenatal ultrasound. Next-generation sequencing... (Review)
Review
Diagnostic Yield of Exome Sequencing in Fetuses with Sonographic Features of Skeletal Dysplasias but Normal Karyotype or Chromosomal Microarray Analysis: A Systematic Review.
Skeletal dysplasias are a group of diseases characterized by bone and joint abnormalities, which can be detected during prenatal ultrasound. Next-generation sequencing has rapidly revolutionized molecular diagnostic approaches in fetuses with structural anomalies. This review studies the additional diagnostic yield of prenatal exome sequencing in fetuses with prenatal sonographic features of skeletal dysplasias. This was a systematic review by searching PubMed for studies published between 2013 and July 2022 that identified the diagnostic yield of exome sequencing after normal karyotype or chromosomal microarray analysis (CMA) for cases with suspected fetal skeletal dysplasias based on prenatal ultrasound. We identified 10 out of 85 studies representing 226 fetuses. The pooled additional diagnostic yield was 69.0%. The majority of the molecular diagnoses involved de novo variants (72%), while 8.7% of cases were due to inherited variants. The incremental diagnostic yield of exome sequencing over CMA was 67.4% for isolated short long bones and 77.2% for non-isolated cases. Among phenotypic subgroup analyses, features with the highest additional diagnostic yield were an abnormal skull (83.3%) and a small chest (82.5%). Prenatal exome sequencing should be considered for cases with suspected fetal skeletal dysplasias with or without a negative karyotype or CMA results. Certain sonographic features, including an abnormal skull and small chest, may indicate a potentially higher diagnostic yield.
Topics: Pregnancy; Female; Humans; Prenatal Diagnosis; Exome Sequencing; Microarray Analysis; Fetus; Osteochondrodysplasias; Karyotype
PubMed: 37372383
DOI: 10.3390/genes14061203 -
Journal of the Turkish German... Jun 2022Molar pregnancy coexistent with a live fetus can be a diagnostic and therapeutic challenge. With increasing incidence of multiple pregnancies, there has also been an...
OBJECTIVE
Molar pregnancy coexistent with a live fetus can be a diagnostic and therapeutic challenge. With increasing incidence of multiple pregnancies, there has also been an increase in twin pregnancy with one mole in the recent years. The authors discuss the epidemiology, clinical presentation, and prenatal diagnosis and attempt to design a possible management strategy, to help guide the treating physician, in the management of partial mole with live pregnancy, thereby improving maternal and fetal prognosis.
MATERIAL AND METHODS
Numerous case reports have been published in various journals regarding management of individual cases of partial molar pregnancy coexistent with live fetus (PMCF). Therefore, we conducted a systematic review of all the case reports and short case series in English concerning partial mole with live pregnancy from 1999 to 2019, that is in the last 20 years.
RESULTS
In total, 44 case reports of PMCF were analyzed. The mean gestational age at diagnosis was 20+6 (range: 10-40) weeks. Less than half (19/44; 43.2%) were asymptomatic at the time of detection and PMCF was detected on routine scan done for fetal well-being or 11-13-week scan. The majority (56.8%) resulted in the birth of a healthy live fetus. Gestational trophoblastic neoplasia developed in 3/44 (6.8%).
CONCLUSION
PMCF involves a high risk of bleeding, preterm labour, intrauterine growth restriction and stillbirth. Successful management of such cases needs prenatal diagnosis, antepartum surveillance and post-natal follow-up. An obstetrician, maternal fetal medicine specialist, gynecology oncologist and neonatal intensivist should be involved in the care of such pregnancies.
PubMed: 35642357
DOI: 10.4274/jtgga.galenos.2022.2021-9-11 -
BMC Pregnancy and Childbirth Jan 2024This systematic review provides an overview of machine learning (ML) approaches for predicting preeclampsia.
BACKGROUND
This systematic review provides an overview of machine learning (ML) approaches for predicting preeclampsia.
METHOD
This review adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyzes (PRISMA) guidelines. We searched the Cochrane Central Register, PubMed, EMBASE, ProQuest, Scopus, and Google Scholar up to February 2023. Search terms were limited to "preeclampsia" AND "artificial intelligence" OR "machine learning" OR "deep learning." All studies that used ML-based analysis for predicting preeclampsia in pregnant women were considered. Non-English articles and those that are unrelated to the topic were excluded. The PROBAST was used to assess the risk of bias and applicability of each included study.
RESULTS
The search strategy yielded 128 citations; after duplicates were removed and title and abstract screening was completed, 18 full-text articles were evaluated for eligibility. Four studies were included in this review. Two studies were at low risk of bias, and two had low to moderate risk. All of the study designs included were retrospective cohort studies. Nine distinct models were chosen as ML models from the four studies. Maternal characteristics, medical history, medication intake, obstetrical history, and laboratory and ultrasound findings obtained during prenatal care visits were candidate predictors to train the ML model. Elastic net, stochastic gradient boosting, extreme gradient boosting, and Random forest were among the best models to predict preeclampsia. All four studies used metrics such as the area under the curve, true positive rate, negative positive rate, accuracy, precision, recall, and F1 score. The AUC of ML models varied from 0.860 to 0.973 in four studies.
CONCLUSION
The results of studies yielded high prediction performance of ML models for preeclampsia risk from routine early pregnancy information.
Topics: Pregnancy; Humans; Female; Pre-Eclampsia; Retrospective Studies; Machine Learning; Prenatal Care; Risk
PubMed: 38166801
DOI: 10.1186/s12884-023-06220-1 -
The Lancet. Diabetes & Endocrinology Jan 2021Phaeochromocytoma or paraganglioma (collectively known as PPGL) in pregnant women can lead to severe complications and death due to associated catecholamine excess. We...
BACKGROUND
Phaeochromocytoma or paraganglioma (collectively known as PPGL) in pregnant women can lead to severe complications and death due to associated catecholamine excess. We aimed to identify factors associated with maternal and fetal outcomes in women with PPGL during pregnancy.
METHODS
We did a multicentre, retrospective study of patients with PPGL and pregnancy between Jan 1, 1980, and Dec 31, 2019, in the International Pheochromocytoma and Pregnancy Registry and a systematic review of studies published between Jan 1, 2005, and Dec 27, 2019 reporting on at least five cases. The inclusion criteria were pregnancy after 1980 and PPGL before or during pregnancy or within 12 months post partum. Eligible patients from the retrospective study and systematic review were included in the analysis. Outcomes of interest were maternal or fetal death and maternal severe cardiovascular complications of catecholamine excess. Potential variables associated with these outcomes were evaluated by logistic regression.
FINDINGS
The systematic review identified seven studies (reporting on 63 pregnancies in 55 patients) that met the eligibility criteria and were of adequate quality. A further 197 pregnancies in 186 patients were identified in the International Pheochromocytoma and Pregnancy Registry. After excluding 11 pregnancies due to potential overlap, the final cohort included 249 pregnancies in 232 patients with PPGL. The diagnosis of PPGL was made before pregnancy in 37 (15%) pregnancies, during pregnancy in 134 (54%), and after delivery in 78 (31%). Of 144 patients evaluated for genetic predisposition for phaeochromocytoma, 95 (66%) were positive. Unrecognised PPGL during pregnancy (odds ratio 27·0; 95% CI 3·5-3473·1), abdominal or pelvic tumour location (11·3; 1·5-1440·5), and catecholamine excess at least ten-times the upper limit of the normal range (4·7; 1·8-13·8) were associated with adverse outcomes. For patients diagnosed during pregnancy, α-adrenergic blockade therapy was associated with fewer adverse outcomes (3·6; 1·1-13·2 for no α-adrenergic blockade vs α-adrenergic blockade), whereas surgery during pregnancy was not associated with better outcomes (0·9; 0·3-3·9 for no surgery vs surgery).
INTERPRETATION
Unrecognised and untreated PPGL was associated with a substantially higher risk of either maternal or fetal complications. Appropriate case detection and counselling for premenopausal women at risk for PPGL could prevent adverse pregnancy-related outcomes.
FUNDING
US National Institutes of Health.
Topics: Adolescent; Adrenal Gland Neoplasms; Adult; Cohort Studies; Female; Fetal Diseases; Humans; Incidence; Infant, Newborn; Infant, Newborn, Diseases; Male; Middle Aged; Pheochromocytoma; Pregnancy; Pregnancy Complications, Neoplastic; Pregnancy Outcome; Prenatal Exposure Delayed Effects; Retrospective Studies; Young Adult
PubMed: 33248478
DOI: 10.1016/S2213-8587(20)30363-6 -
Clinical Genetics Oct 2022Hemivertebra is a congenital vertebral malformation caused by unilateral failure of formation during embryogenesis that may be associated with additional abnormalities.... (Review)
Review
Hemivertebra is a congenital vertebral malformation caused by unilateral failure of formation during embryogenesis that may be associated with additional abnormalities. A systematic review was conducted to investigate genetic etiologies of non-isolated hemivertebra identified in the fetal, neonatal, and infant periods using PubMed, Cochrane database, Ovid Medline, and ClinicalTrials.gov from inception through May 2022 (PROSPERO ID CRD42021229576). The Human Phenotype Ontology database was accessed May 2022. Studies were deemed eligible for inclusion if they addressed non-isolated hemivertebra or genetic causes of non-isolated hemivertebra identified in the fetal, neonatal, or infant periods. Cases diagnosed clinically without molecular confirmation were included. Systematic review identified 23 cases of non-isolated hemivertebra with karyotypic abnormalities, 2 cases due to microdeletions, 59 cases attributed to single gene disorders, 18 syndromic cases without known genetic etiology, and 14 cases without a known syndromic association. The Human Phenotype Ontology search identified 49 genes associated with hemivertebra. Non-isolated hemivertebra is associated with a diverse spectrum of cytogenetic abnormalities and single gene disorders. Genetic syndromes were notably common. Frequently affected organ systems include musculoskeletal, cardiovascular, central nervous system, genitourinary, gastrointestinal, and facial dysmorphisms. When non-isolated hemivertebra is identified on prenatal ultrasound, the fetus must be assessed for associated anomalies and genetic counseling is recommended.
Topics: Female; Fetus; Genetic Counseling; Humans; Infant; Infant, Newborn; Karyotyping; Musculoskeletal Abnormalities; Pregnancy; Retrospective Studies; Spine; Ultrasonography, Prenatal
PubMed: 35802600
DOI: 10.1111/cge.14188 -
Frontiers in Pediatrics 2023Although the association between maternal exposure to antibiotics and the risk of atopic dermatitis (AD) in childhood has been studied extensively, there still is a lack... (Review)
Review
BACKGROUND
Although the association between maternal exposure to antibiotics and the risk of atopic dermatitis (AD) in childhood has been studied extensively, there still is a lack of clarity on the topic. The aim of this study was to summarize the published data and to examine if maternal exposure to antibiotics increases the risk of AD in childhood.
METHODS
Systematic search was performed in PubMed, Scopus, Web of Science, and Embase for all types of studies on the review subject independent of any language restrictions and published up to 28th December 2022. Data was analyzed using random-effects model and presented as pooled odds ratio (OR) with 95% confidence intervals (CI).
RESULTS
A total of 18 studies (5,354,282 mother-child pairs) were included. Maternal exposure to antibiotics was associated with an increased risk of AD in childhood (OR: 1.14, 95% CI: 1.06, 1.22, = 85%, = 0.0003). The significance of the results was not affected by the location of the study (Asia or Europe). While subgroup analysis based on exposure assessment or diagnosis of AD demonstrated a tendency of increased risk of AD, the association was not statistically significant in multiple subgroups. Segregating data based on the timing of exposure did not affect the significance of the results for studies on all trimesters. However, there was no association between antibiotic exposure in the third trimester or just before delivery and the risk of childhood AD.
CONCLUSION
The results of this meta-analysis suggest that maternal exposure to antibiotics may lead to a modestly increased risk of AD in offspring. The evidence is limited by high interstudy heterogeneity and bias in exposure and outcome assessment. Future studies are needed to explore if the timing of exposure, the dose, the number of prescriptions, and the type of antibiotic affect this association.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/prospero/, identifier CRD42023387233.
PubMed: 37255572
DOI: 10.3389/fped.2023.1142069 -
Healthcare (Basel, Switzerland) Oct 2022(1) Background: AI-based solutions could become crucial for the prediction of pregnancy disorders and complications. This study investigated the evidence for applying... (Review)
Review
(1) Background: AI-based solutions could become crucial for the prediction of pregnancy disorders and complications. This study investigated the evidence for applying artificial intelligence methods in obstetric pregnancy risk assessment and adverse pregnancy outcome prediction. (2) Methods: Authors screened the following databases: Pubmed/MEDLINE, Web of Science, Cochrane Library, EMBASE, and Google Scholar. This study included all the evaluative studies comparing artificial intelligence methods in predicting adverse pregnancy outcomes. The PROSPERO ID number is CRD42020178944, and the study protocol was published before this publication. (3) Results: AI application was found in nine groups: general pregnancy risk assessment, prenatal diagnosis, pregnancy hypertension disorders, fetal growth, stillbirth, gestational diabetes, preterm deliveries, delivery route, and others. According to this systematic review, the best artificial intelligence application for assessing medical conditions is ANN methods. The average accuracy of ANN methods was established to be around 80-90%. (4) Conclusions: The application of AI methods as a digital software can help medical practitioners in their everyday practice during pregnancy risk assessment. Based on published studies, models that used ANN methods could be applied in APO prediction. Nevertheless, further studies could identify new methods with an even better prediction potential.
PubMed: 36360505
DOI: 10.3390/healthcare10112164 -
Prenatal Diagnosis Apr 2024Determine the incremental diagnostic yield of prenatal exome sequencing (pES) over chromosome microarray (CMA) or G-banding karyotype in fetuses with central nervous... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
Determine the incremental diagnostic yield of prenatal exome sequencing (pES) over chromosome microarray (CMA) or G-banding karyotype in fetuses with central nervous system (CNS) abnormalities.
METHODS
Data were collected via electronic searches from January 2010 to April 2022 in MEDLINE, Cochrane, Web of Science and EMBASE. The NHS England prenatal exome cohort was also included. Incremental yield was calculated as a pooled value using a random-effects model.
RESULTS
Thirty studies were included (n = 1583 cases). The incremental yield with pES for any CNS anomaly was 32% [95%CI 27%-36%; I = 72%]. Subgroup analysis revealed apparent incremental yields in; (a) isolated CNS anomalies; 27% [95%CI 19%-34%; I = 74%]; (b) single CNS anomaly; 16% [95% CI 10%-23%; I = 41%]; (c) more than one CNS anomaly; 31% [95% Cl 21%-40%; I = 56%]; and (d) the anatomical subtype with the most optimal yield was Type 1 malformation of cortical development, related to abnormal cell proliferation or apoptosis, incorporating microcephalies, megalencephalies and dysplasia; 40% (22%-57%; I = 68%). The commonest syndromes in isolated cases were Lissencephaly 3 and X-linked hydrocephalus.
CONCLUSIONS
Prenatal exome sequencing provides a high incremental diagnostic yield in fetuses with CNS abnormalities with optimal yields in cases with multiple CNS anomalies, particularly those affecting the midline, posterior fossa and cortex.
Topics: Pregnancy; Female; Humans; Prospective Studies; Hydrocephalus; Nervous System Malformations; Karyotyping; Karyotype; Fetus; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 38054560
DOI: 10.1002/pd.6466 -
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