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Journal of Clinical Medicine Oct 2021To determine the diagnostic yield of exome sequencing (ES), a microarray analysis was carried out of fetuses with recurrent fetal structural anomalies (with similar... (Review)
Review
To determine the diagnostic yield of exome sequencing (ES), a microarray analysis was carried out of fetuses with recurrent fetal structural anomalies (with similar anomalies in consecutive pregnancies). This is a systematic review conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) criteria. The selected studies describing ES in fetuses with recurrent fetal malformation were assessed using the Standards for Reporting of Diagnostic Accuracy Studies (STARD) criteria for risk of bias. Incidence was used as the pooled effect size by single-proportion analysis using random-effects modeling (weighted by inverse of variance). We identified nine studies on ES diagnostic yield that included 140 fetuses with recurrent structural anomalies. A pathogenic or likely pathogenic variant was found in 57 fetuses, resulting in a 40% (95%CI: 26% to 54%) incremental performance pool of ES. As expected, the vast majority (86%: 36/42) of the newly identified diseases had a recessive inheritance pattern, and among these, 42% (15/36) of variants were found in homozygosity. Meckel syndrome was the monogenic disease most frequently found, although the genes involved were diverse. The ES diagnostic yield in pregnancies with recurrent fetal structural anomalies was 40% (57/140). Homozygous disease-causing variants were found in 36% (15/57) of the newly identified monogenic disorders.
PubMed: 34682862
DOI: 10.3390/jcm10204739 -
BMC Pregnancy and Childbirth May 2023To evaluate the diagnostic accuracy of ultrasound and in the diagnosis of Placenta accreta spectrum (PAS). (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To evaluate the diagnostic accuracy of ultrasound and in the diagnosis of Placenta accreta spectrum (PAS).
DATA SOURCES
Screening of MEDLINE, CENTRAL, other bases from inception to February 2022 using the keywords related to placenta accreta, increta, percreta, morbidly adherent placenta, and preoperative ultrasound diagnosis.
STUDY ELIGIBILITY CRITERIA
All available studies- whether were prospective or retrospective- including cohort, case control and cross sectional that involved prenatal diagnosis of PAS using 2D or 3D ultrasound with subsequent pathological confirmation postnatal were included. Fifty-four studies included 5307 women fulfilled the inclusion criteria, PAS was confirmed in 2025 of them.
STUDY APPRAISAL AND SYNTHESIS METHODS
Extracted data included settings of the study, study type, sample size, participants characteristics and their inclusion and exclusion criteria, Type and site of placenta previa, Type and timing of imaging technique (2D, and 3D), severity of PAS, sensitivity and specificity of individual ultrasound criteria and overall sensitivity and specificity.
RESULTS
The overall sensitivity was 0.8703, specificity was 0.8634 with -0.2348 negative correlation between them. The estimate of Odd ratio, negative likelihood ratio and positive likelihood ratio were 34.225, 0.155 and 4.990 respectively. The overall estimates of loss of retroplacental clear zone sensitivity and specificity were 0.820 and 0.898 respectively with 0.129 negative correlation. The overall estimates of myometrial thinning, loss of retroplacental clear zone, the presence of bridging vessels, placental lacunae, bladder wall interruption, exophytic mass, and uterovesical hypervascularity sensitivities were 0.763, 0.780, 0.659, 0.785, 0.455, 0.218 and 0.513 while specificities were 0.890, 0.884, 0.928, 0.809, 0.975, 0.865 and 0.994 respectively.
CONCLUSIONS
The accuracy of ultrasound in diagnosis of PAS among women with low lying or placenta previa with previous cesarean section scars is high and recommended in all suspected cases.
TRIAL REGISTRATION
Number CRD42021267501.
Topics: Pregnancy; Female; Humans; Placenta Accreta; Placenta; Placenta Previa; Cesarean Section; Retrospective Studies; Prospective Studies; Cross-Sectional Studies; Ultrasonography, Prenatal
PubMed: 37189095
DOI: 10.1186/s12884-023-05675-6 -
BJOG : An International Journal of... Jul 2021Phaeochromocytoma and paraganglioma (PPGL) in pregnancy, if not diagnosed antepartum, pose a high risk for mother and child.
BACKGROUND
Phaeochromocytoma and paraganglioma (PPGL) in pregnancy, if not diagnosed antepartum, pose a high risk for mother and child.
OBJECTIVE
To examine the clinical clues of antepartum and postpartum/postmortem diagnosis of PPGL.
SEARCH STRATEGY
Case reports on PPGL in pregnancy published between 1 January 1988 and 30 June 2019 in English, German, Dutch or French.
SELECTION CRITERIA
Case reports containing a predefined minimum of clinical data on PPGL and pregnancy.
DATA COLLECTION AND ANALYSIS
Two authors independently performed data extraction and assessed data quality. We calculated odds ratios (OR) (with 95% confidence intervals) and used uni- and multivariable logistic regression analysis.
MAIN RESULTS
Maternal and fetal/neonatal mortalities were 9.0% (18/200) and 14.2% (29/204), respectively. Maternal mortality was 42-fold higher with PPGL diagnosed postpartum/postmortem (17/58; 29.3%) than antepartum (1/142; 0.7%) (adjusted OR 45.9, 95% CI 5.67-370, P = 0.0003). Offspring mortality was 2.6-fold higher with PPGL diagnosed postpartum/postmortem than antepartum (OR 3.1, 95% CI 1.38-6.91, P = 0.0044). Hypertension at admission (OR 2.29, 95% CI 1.12-4.68, P = 0.022), sweating (OR 3.14, 95% CI 1.29-7.63, P = 0.014) and a history of PPGL, a known PPGL-associated gene mutation or adrenal mass (OR 8.87, 95% CI 1.89-41.64, P = 0.0056) were independent factors of antepartum diagnosis. Acute onset of symptoms (OR 8.49, 95% CI 3.52-20.5, P < 0.0001), initial diagnosis of pre-eclampsia (OR 6.34, 95% CI 2.60-15.5, P < 0.0001), admission for obstetric care (OR 10.71, 95% CI 2.70-42.45, P = 0.0007) and maternal tachycardia (OR 2.72, 95% CI 1.26-5.85, P = 0.011) were independent factors of postpartum diagnosis.
CONCLUSION
Several clinical clues can assist clinicians in considering an antenatal diagnosis of PPGL in pregnancy, thus potentially improving outcome.
TWEETABLE ABSTRACT
Systematic review of 204 pregnant patients with phaeochromocytoma identified clinical clues for a timely antepartum diagnosis.
Topics: Adrenal Gland Neoplasms; Early Diagnosis; Female; Humans; Infant; Infant Mortality; Infant, Newborn; Paraganglioma; Pheochromocytoma; Pregnancy; Pregnancy Complications, Neoplastic; Pregnancy Outcome; Prenatal Diagnosis; Prognosis; Risk Factors
PubMed: 33342020
DOI: 10.1111/1471-0528.16635 -
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 -
Journal of Clinical Medicine Jun 2022Valid data on prenatal cell-free DNA-based screening tests for copy number variations and microdeletions are still insufficient. We aimed to compare different... (Review)
Review
Valid data on prenatal cell-free DNA-based screening tests for copy number variations and microdeletions are still insufficient. We aimed to compare different methodological approaches concerning the achieved diagnostic accuracy measurements and positive predictive values. For this systematic review, we searched the Scopus and PubMed databases and backward citations for studies published between 2013 and 4 February 2022 and included articles reporting the analytical and clinical performance of cfDNA screening tests for CNVs and microdeletions. Of the 1810 articles identified, 32 met the criteria. The reported sensitivity of the applied tests ranged from 20% to 100%, the specificity from 81.62% to 100%, and the PPV from 3% to 100% for cases with diagnostic or clinical follow-up information. No confirmatory analysis was available in the majority of cases with negative screening results, and, therefore, the NPVs could not be determined. NIPT for CNVs and microdeletions should be used with caution and any developments regarding new technologies should undergo strict evaluation before their implementation into clinical practice. Indications for testing should be in correlation with the application guidelines issued by international organizations in the field of prenatal diagnostics.
PubMed: 35743413
DOI: 10.3390/jcm11123350 -
Journal of Clinical Medicine Nov 2021Although gastroschisis is often diagnosed by prenatal ultrasound, there is still a gap in the literature about which prenatal ultrasound markers can predict complex... (Review)
Review
Although gastroschisis is often diagnosed by prenatal ultrasound, there is still a gap in the literature about which prenatal ultrasound markers can predict complex gastroschisis. This systematic review and meta-analysis aimed to investigate the ultrasound markers that characterize complex gastroschisis. A systematic review of the literature was conducted according to the guidelines of PRISMA. The protocol was registered (PROSPERO ID CRD42020211685). Meta-analysis was displayed graphically on Forest plots, which estimate prevalence rates and risk ratios, with 95% confidence intervals, using STATA version 15.0. The combined prevalence of intestinal complications in fetuses with complex gastroschisis was 27.0%, with a higher prevalence of atresia (about 48%), followed by necrosis (about 25%). The prevalence of deaths in newborns with complex gastroschisis was 15.0%. The predictive ultrasound markers for complex gastroschisis were intraabdominal bowel dilatation (IABD) (RR 3.01, 95% CI 2.22 to 4.07; I = 15.7%), extra-abdominal bowel dilatation (EABD) (RR 1.55, 95% CI 1.01 to 2.39; I = 77.1%), and polyhydramnios (RR 3.81, 95% CI 2.09 to 6.95; I = 0.0%). This review identified that IABD, EABD, and polyhydramnios were considered predictive ultrasound markers for complex gastroschisis. However, evidence regarding gestational age at the time of diagnosis is needed.
PubMed: 34830497
DOI: 10.3390/jcm10225215 -
Reproductive Sciences (Thousand Oaks,... Nov 2022Preeclampsia (PE) is one of the main causes of maternal death worldwide, but our understanding of the molecular characteristics of disease progression is limited. In... (Meta-Analysis)
Meta-Analysis Review
Preeclampsia (PE) is one of the main causes of maternal death worldwide, but our understanding of the molecular characteristics of disease progression is limited. In this meta-analysis, we aimed to assess the value of peripheral blood microRNAs (miRNAs) as diagnostic and predictive markers of PE. We screened PubMed, Web of Science, and Embase databases; searched articles about "miRNAs and PE" up to November 30, 2020; and conducted biological information and subgroup analysis. We used QUADAS-2 (quality assessment of diagnostic accuracy studies-2) to evaluate the included articles by two independent reviewers, calculated the combined diagnostic and predictive indicators using the random effects model, explored the sources of potential heterogeneity through subgroup analysis, and evaluated publication bias using Deeks' funnel plot asymmetry test using Stata 14.0 and Review Manager 5.3 software. Forty-three miRNAs from 15 studies, including 2042 healthy controls and 2685 PE patients, had a pooled sensitivity of 0.86 (95% CI: 0.81-0.90), specificity of 0.89 (95% CI: 0.85-0.92), and an AUC of 0.94 (95% CI: 0.91-0.96). Moreover, before 20 weeks of gestation, the combined sensitivity was 0.86 (95% CI: 0.75-0.92), and the specificity was 0.90 (95% CI: 0.83-0.95), which indicated that some of the circulating miRNAs had changed significantly before the clinical symptoms appeared in PE patients. Circulating miRNAs have high diagnostic and predictive accuracy and may be used as non-invasive biomarkers for the diagnosis and prediction of PE. However, a large sample prospective study is still needed.
Topics: Female; Humans; Pregnancy; Biomarkers; Circulating MicroRNA; MicroRNAs; Pre-Eclampsia; Sensitivity and Specificity
PubMed: 34817849
DOI: 10.1007/s43032-021-00799-6 -
Research in Developmental Disabilities Mar 2022Screening facilitates the early identification of fetal alcohol spectrum disorder (FASD) and prevalence estimation of FASD for timely prevention, diagnostic, and... (Review)
Review
BACKGROUND
Screening facilitates the early identification of fetal alcohol spectrum disorder (FASD) and prevalence estimation of FASD for timely prevention, diagnostic, and management planning. However, little is known about FASD screening tools.
AIMS
The aims of this systematic review are to identify FASD screening tools and examine their performance characteristics.
METHODS
Four electronic databases were searched for eligible studies that examined individuals with FASD or prenatal alcohol exposure and reported the sensitivity and specificity of FASD screening tools. The quality of the studies was assessed using the Quality Assessment of Diagnostic Studies-2 tool.
RESULTS
Sixteen studies were identified, comprising five fetal alcohol syndrome (FAS) and seven FASD screening tools. They varied in screening approach and performance characteristics and were linked to four different diagnostic criteria. FAS screening tools performed well in the identification of individuals at risk of FAS while the performance of FASD screening tools varied in the identification of individuals at risk of FASD.
CONCLUSION AND IMPLICATIONS
Results highlight the vast differences in the screening approaches performance characteristics, and diagnostic criteria linked to FASD screening tools. More research is needed to identify biomarkers unique to FASD to guide the development of accurate FASD screening tools.
Topics: Alcohol Drinking; Female; Fetal Alcohol Spectrum Disorders; Humans; Mass Screening; Pregnancy; Prenatal Exposure Delayed Effects; Prevalence; Sensitivity and Specificity
PubMed: 34996007
DOI: 10.1016/j.ridd.2021.104168 -
World Journal of Pediatrics : WJP May 2023Sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) or nephrotic syndrome type-14 is caused by biallelic mutations in SGPL1. Here, we conducted a systematic... (Review)
Review
BACKGROUND
Sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) or nephrotic syndrome type-14 is caused by biallelic mutations in SGPL1. Here, we conducted a systematic review to delineate the characteristics of SPLIS patients.
METHODS
A literature search was performed in PubMed, Web of Science, and Scopus databases, and eligible studies were included. For all patients, demographic, clinical, laboratory, and molecular data were collected and analyzed.
RESULTS
Fifty-five SPLIS patients (54.9% male, 45.1% female) were identified in 19 articles. Parental consanguinity and positive family history were reported in 70.9% and 52.7% of patients, respectively. Most patients (54.9%) primarily manifested within the first year of life, nearly half of whom survived, while all patients with a prenatal diagnosis of SPLIS (27.5%) died at a median [interquartile (IQR)] age of 2 (1.4-5.3) months (P = 0.003). The most prevalent clinical feature was endocrinopathies, including primary adrenal insufficiency (PAI) (71.2%) and hypothyroidism (32.7%). Kidney disorders (42, 80.8%) were mainly in the form of steroid-resistant nephrotic syndrome (SRNS) and progressed to end-stage kidney disease (ESKD) in 19 (36.5%) patients at a median (IQR) age of 6 (1.4-42.6) months. Among 30 different mutations in SGPL1, the most common was c.665G > A (p.Arg222Gln) in 11 (20%) patients. Twenty-six (49.1%) patients with available outcome were deceased at a median (IQR) age of 5 (1.5-30.5) months, mostly following ESKD (23%) or sepsis/septic shock (23%).
CONCLUSION
In patients with PAI and/or SRNS, SGPL1 should be added to diagnostic genetic panels, which can provide an earlier diagnosis of SPLIS and prevention of ESKD and other life-threatening complications.
Topics: Humans; Male; Female; Infant; Sphingosine; Nephrotic Syndrome; Mutation; Kidney Failure, Chronic; Phosphates; Lyases
PubMed: 36371483
DOI: 10.1007/s12519-022-00615-4 -
Journal of Clinical Nursing Sep 2023To examine and consolidate literature on the experiences and decision-making of parents following a screen positive result for a potential fetal anomaly and/or diagnosis... (Review)
Review
AIMS AND OBJECTIVES
To examine and consolidate literature on the experiences and decision-making of parents following a screen positive result for a potential fetal anomaly and/or diagnosis of an actual anomaly in a previous pregnancy.
BACKGROUND
Prenatal screening consists of any diagnostic modality that is aimed at acquiring information about a fetus or an embryo; however, the entire process is highly stressful for parents, especially if there was a previous screen positive result, but no abnormality was detected in the final result.
METHODS
Eight electronic databases (PubMed, Embase, CINAHL, PsycINFO, Scopus, Web of Science, ProQuest Theses and Dissertations and ClinicalTrials.gov) were searched from each database's inception until February 2022. This scoping review was guided by Arksey and O'Malley's framework and was reported in accordance with the PRISMA-ScR checklist. Braun and Clarke's thematic analysis framework was utilised.
RESULTS
Thirty-one studies were eligible for inclusion. Two main themes (reliving the fear while maintaining hope, and bridging the past and future pregnancies) and six subthemes were identified.
CONCLUSIONS
A fetal anomaly diagnosis in pregnancy had a mixed impact on the attitudes of parents toward a future pregnancy. Some parents were fearful of reliving a traumatic experience, while others were determined to have a healthy child and grow their family. Parents generally expressed a greater preference for non-invasive over invasive prenatal testing due to the procedural risks involved.
RELEVANCE TO CLINICAL PRACTICE
There is a need for healthcare professionals to provide psychosocial and emotional support to parents so that they can achieve resolution for their previous pregnancy. Healthcare professionals' ability to provide informational support also enables these parents to make informed decision and understand their reproductive outcomes. Additionally, healthcare administration and policymakers should reconsider current neonatal or pregnancy loss bereavement guidelines to improve the inclusivity of fathers.
PATIENT OR PUBLIC CONTRIBUTION
No patient or public contribution.
Topics: Female; Humans; Infant, Newborn; Pregnancy; Abortion, Induced; Forecasting; Parents; Prenatal Diagnosis; Reproduction
PubMed: 36707923
DOI: 10.1111/jocn.16628