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Diagnostics (Basel, Switzerland) Dec 2022Fetal Nuchal fluid collections can manifest with two distinct presentations attributable to the same phenotypic spectrum: increased nuchal translucency (iNT) and cystic... (Review)
Review
A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma-Systematic Review of the Literature, Meta-Analysis and Case Series.
Fetal Nuchal fluid collections can manifest with two distinct presentations attributable to the same phenotypic spectrum: increased nuchal translucency (iNT) and cystic hygroma. The prenatal detection of these findings should prompt an accurate assessment through genetic counseling and testing, including karyotype, chromosomal microarray analysis (CMA) and multigene RASopathy panel. We performed a systematic review of the literature and meta-analysis, to calculate diagnostic yields of genetic testing in fetuses with iNT and cystic hygroma. We compared the results with a cohort of 96 fetuses with these isolated findings. Fetuses with isolated NT ≥ 2.5 mm showed karyotype anomalies in 22.76% of cases and CMA presented an incremental detection rate of 2.35%. Fetuses with isolated NT ≥ 3 mm presented aneuploidies in 14.36% of cases and CMA had an incremental detection rate of 3.89%. When the isolated NT measured at least 3.5 mm the diagnostic yield of karyotyping was 34.35%, the incremental CMA detection rate was 4.1%, the incremental diagnostic rate of the RASopathy panel was 1.44% and it was 2.44% for exome sequencing. Interestingly, CMA presents a considerable diagnostic yield in the group of fetuses with NT ≥ 3.5 mm. Similarly, exome sequencing appears to show promising results and could be considered after a negative CMA result.
PubMed: 36611340
DOI: 10.3390/diagnostics13010048 -
Ultrasound in Obstetrics & Gynecology :... Apr 2023To determine, by expert consensus through a modified Delphi process, the role of standardized and new ultrasound signs in the prenatal evaluation of patients at high...
OBJECTIVE
To determine, by expert consensus through a modified Delphi process, the role of standardized and new ultrasound signs in the prenatal evaluation of patients at high risk of placenta accreta spectrum (PAS).
METHODS
A systematic review of articles providing information on ultrasound imaging signs or markers associated with PAS was performed before the development of questionnaires for the first round of the Delphi process. Only peer-reviewed original research studies in the English language describing one or more new ultrasound sign(s) for the prenatal evaluation of PAS were included. A three-round consensus-building Delphi method was then conducted under the guidance of a steering group, which included nine experts who invited an international panel of experts in obstetric ultrasound imaging in the evaluation of patients at high risk for PAS. Consensus was defined as agreement of ≥ 70% between participants.
RESULTS
The systematic review identified 15 articles describing eight new ultrasound signs for the prenatal evaluation of PAS. A total of 35 external experts were approached, of whom 31 agreed and participated in the first round. Thirty external experts (97%) and seven experts from the steering group completed all three Delphi rounds. A consensus was reached that a prior history of at least one Cesarean delivery, myomectomy or PAS should be an indication for detailed PAS ultrasound assessment. The panelists also reached a consensus that seven of the 11 conventional signs of PAS should be included in the examination of high-risk patients and the routine mid-gestation scan report: (1) loss of the 'clear zone', (2) myometrial thinning, (3) bladder-wall interruption, (4) placental bulge, (5) uterovesical hypervascularity, (6) placental lacunae and (7) bridging vessels. A consensus was not reached for any of the eight new signs identified by the systematic review. With respect to other ultrasound features that are not specific to PAS but increase the probability of PAS at birth, the panelists reached a consensus for the finding of anterior placenta previa or placenta previa with cervical involvement. The experts were also asked to determine which PAS signs should be quantified and consensus was reached only for the quantification of placental lacunae using an existing score. For predicting surgical outcome in patients with a high probability of PAS at delivery, a consensus was obtained for loss of the clear zone, bladder-wall interruption, presence of placental lacunae and presence of placenta previa involving the cervix.
CONCLUSIONS
We have confirmed the continued importance of seven established standardized ultrasound signs of PAS, highlighted the role of transvaginal ultrasound in evaluating the placental position and anatomy of the cervix, and identified new ultrasound signs that may become useful in the future prenatal evaluation and management of patients at high risk for PAS at birth. © 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: Infant, Newborn; Pregnancy; Female; Humans; Placenta Accreta; Placenta; Placenta Previa; Delphi Technique; Ultrasonography; Ultrasonography, Prenatal; Retrospective Studies
PubMed: 36609827
DOI: 10.1002/uog.26155 -
BMJ Open Jan 2023To assess the diagnostic accuracy of non-invasive or minimally invasive autopsy techniques in deaths under 1 year of age.
Are non-invasive or minimally invasive autopsy techniques for detecting cause of death in prenates, neonates and infants accurate? A systematic review of diagnostic test accuracy.
OBJECTIVES
To assess the diagnostic accuracy of non-invasive or minimally invasive autopsy techniques in deaths under 1 year of age.
DESIGN
This is a systematic review of diagnostic test accuracy. The protocol is registered on PROSPERO.
PARTICIPANTS
Deaths from conception to one adjusted year of age.
SEARCH METHODS
MEDLINE (Ovid), EMBASE (Ovid), CINAHL (EBSCO), the Cochrane Library, Scopus and grey literature sources were searched from inception to November 2021.
DIAGNOSTIC TESTS
Non-invasive or minimally invasive diagnostic tests as an alternative to traditional autopsy.
DATA COLLECTION AND ANALYSIS
Studies were included if participants were under one adjusted year of age, with index tests conducted prior to the reference standard.Data were extracted from eligible studies using piloted forms. Risk of bias was assessed using Quality Assessment of Diagnostic Accuracy Studies-2. A narrative synthesis was conducted following the Synthesis without Meta-Analysis guidelines. Vote counting was used to assess the direction of effect.
MAIN OUTCOME MEASURES
Direction of effect was expressed as percentage of patients per study.
FINDINGS
We included 54 direct evidence studies (68 articles/trials), encompassing 3268 cases and eight index tests. The direction of effect was positive for postmortem ultrasound and antenatal echography, although with varying levels of success. Conversely, the direction of effect was against virtual autopsy. For the remaining tests, the direction of effect was inconclusive.A further 134 indirect evidence studies (135 articles/trials) were included, encompassing 6242 perinatal cases. The addition of these results had minimal impact on the direct findings yet did reveal other techniques, which may be favourable alternatives to autopsy.Seven trial registrations were included but yielded no results.
CONCLUSIONS
Current evidence is insufficient to make firm conclusions about the generalised use of non-invasive or minimally invasive autopsy techniques in relation to all perinatal population groups.PROSPERO registration numberCRD42021223254.
Topics: Infant, Newborn; Pregnancy; Humans; Infant; Female; Autopsy; Cause of Death; Ultrasonography; Diagnostic Tests, Routine; Sensitivity and Specificity
PubMed: 36609326
DOI: 10.1136/bmjopen-2022-064774 -
Prenatal Diagnosis Feb 2023The aim was to determine the accuracy of cell-free DNA testing (cfDNA) for detecting sex chromosome aneuploidies (SCA) in singleton pregnancies. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
The aim was to determine the accuracy of cell-free DNA testing (cfDNA) for detecting sex chromosome aneuploidies (SCA) in singleton pregnancies.
METHODS
A systematic review and meta-analysis was performed to assess cfDNA accuracy for prenatal detection of 45,X, 47,XXY, 47,XXX and 47,XYY. Inclusion was restricted to studies published between January 2010 and December 2021 reporting both cfDNA and confirmatory diagnostic test results.
RESULTS
For 45,X, the sensitivity was 98.8% (95%CI 94.6%-100%), specificity 99.4% (95%CI 98.7%-99.9%) and positive predictive value (PPV) 14.5% (95%CI 7.0%-43.8%). For 47,XXY, the sensitivity was 100% (95%CI 99.6%-100%), specificity 100% (95%CI 99.9%-100%) and PPV 97.7% (95%CI 78.6%-100%). For 47,XXX, the sensitivity was 100% (95%CI 96.9%-100%), specificity 99.9% (95%CI 99.7%-100%) and PPV 61.6% (95%CI 37.6%-95.4%). For 47,XYY, the sensitivity was 100% (95%CI 91.3%-100%), specificity 100% (95% CI 100%-100%) and PPV 100% (95%CI 76.5%-100%). All four SCAs had estimated negative predictive values (NPV) exceeding 99.99%, though false negatives were reported.
CONCLUSIONS
This analysis suggests that cfDNA is a reliable screening test for SCA, though both false negatives and false positives were reported. These estimates of test performance are derived from pregnancies at high pretest risk for aneuploidy, limiting the generalisability to average risk pregnancies.
Topics: Pregnancy; Female; Humans; Cell-Free Nucleic Acids; Sex Chromosome Aberrations; Aneuploidy; Chromosomes, Human, X; Prenatal Diagnosis
PubMed: 36588186
DOI: 10.1002/pd.6298 -
Healthcare (Basel, Switzerland) Dec 2022Pregnancy is a period of transformation, hope, expectation, and worry for women and their families. A high-risk pregnancy refers to a pregnancy in which the mother... (Review)
Review
BACKGROUND
Pregnancy is a period of transformation, hope, expectation, and worry for women and their families. A high-risk pregnancy refers to a pregnancy in which the mother and/or fetus are at greater-than-normal risk of complications, and it evokes a range of emotional and psychological experiences that largely depend on the care and support provided by health professionals. The purpose of this review is to summarize the existing literature on the lived experience of hope in women facing a high-risk pregnancy related to their own health and/or medical conditions related to the fetus.
METHODS
This review followed the Joanna Briggs Institute's methodology. No limits on a date were applied to the search. Identified titles and abstracts were screened to select original reports and were cross-checked for any overlap of cases. We included studies that emphasized the experience of hope of pregnant women dealing with a pregnancy complication.
MAIN RESULTS
According to the results of the present scoping review, we found two main dimensions: women experiencing a high-risk pregnancy themselves and prenatal diagnosis. In both cases, the women were in a dilemma between hope and hopelessness.
CONCLUSION
The findings demonstrate that women facing high-risk pregnancies struggle with multiple fears and concerns about their own health and the fetus's health. Further research is needed to identify best practices for the care provided to the vulnerable populations.
PubMed: 36554001
DOI: 10.3390/healthcare10122477 -
The Journal of Maternal-fetal &... Dec 2023Gestational diabetes mellitus (GDM) characterized by dysfunction in maintaining glucose homeostasis is recognized as the most common metabolic complication associated... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Gestational diabetes mellitus (GDM) characterized by dysfunction in maintaining glucose homeostasis is recognized as the most common metabolic complication associated with pregnancy leading to adverse clinical outcomes for maternal and fetal health. Although previous analysis of the findings from randomized controlled trials (RCTs) support that regular physical activity reduces the incidence of GDM during pregnancy, less is known about the optimal timing of intervention with respect to trimester stage.
OBJECTIVES
To examine the interaction between both the timing and volume of supervised physical activity interventions on reducing the incidence of GDM during pregnancy.
STUDY DESIGN
Electronic databases including CINAHL, Embase, Medline and the Cochrane library were searched for records up to 29 September 2022. Eligibility criteria were RCTs including standard antenatal care + supervised physical activity intervention without dietary modification those receiving standard antenatal care alone in women with no previous diagnosis of GDM, type 1 or type 2 diabetes mellitus.
RESULTS
Of the 3411 records identified, 20 RCTs comprising 6732 participants were included. It was found that supervised physical activity interventions decreased GDM risk when started within the first trimester (RR: 0.57, 95% CI: 0.41-0.79; = .001) and by accumulating >600 MET·min·wk of exercise (RR: 0.77, 95% CI: 0.60-0.98; = .03) compared with standard antenatal care alone. Women with a BMI ≤25 kg/m experienced the greatest risk reduction in GDM following supervised exercise training (RR: 0.51, 95% CI: 0.34-0.75; = .001).
CONCLUSION
Supervised physical activity reduces the incidence of GDM during pregnancy. It is recommended that pregnant individuals achieve a minimum of 600 MET·min·wk of physical activity during the first trimester in order to reduce their odds of developing GDM. Attaining a healthy pre-pregnancy BMI is also an important determinant for the prevention of GDM with exercise.
Topics: Pregnancy; Female; Humans; Diabetes, Gestational; Incidence; Prenatal Care; Diabetes Mellitus, Type 2; Exercise
PubMed: 36514828
DOI: 10.1080/14767058.2022.2155043 -
Journal of Clinical Medicine Nov 2022Magnetic Resonance Imaging (MRI) is a reliable method, with a complementary role to Ultrasound (US) Echocardiography, that can be used to fully comprehend and precisely... (Review)
Review
Magnetic Resonance Imaging (MRI) is a reliable method, with a complementary role to Ultrasound (US) Echocardiography, that can be used to fully comprehend and precisely diagnose congenital cardiac malformations. Besides the anatomical study of the fetal cardiovascular system, it allows us to study the function of the fetal heart, remaining, at the same time, a safe adjunct to the classic fetal echocardiography. MRI also allows for the investigation of cardiac and placental diseases by providing information about hematocrit, oxygen saturation, and blood flow in fetal vessels. It is crucial for fetal medicine specialists and pediatric cardiologists to closely follow the advances of fetal cardiac MRI in order to provide the best possible care. In this review, we summarize the advance in techniques and their practical utility to date.
PubMed: 36498602
DOI: 10.3390/jcm11237027 -
Ultrasound in Obstetrics & Gynecology :... Apr 2023Universal screening for cytomegalovirus (CMV) infection in pregnancy is not recommended in most countries. One of the major deterrents is the lack of effective prenatal... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
Universal screening for cytomegalovirus (CMV) infection in pregnancy is not recommended in most countries. One of the major deterrents is the lack of effective prenatal therapy. The role of valacyclovir therapy in reducing the risk of vertical transmission, symptomatic congenital CMV infection and adverse outcome is controversial. The main aim of this systematic review and meta-analysis was to investigate the safety and effectiveness of prenatal valacyclovir therapy in pregnancies with maternal CMV infection.
METHODS
MEDLINE, EMBASE and Cochrane databases and ClinicalTrials.gov were searched. The inclusion criteria were pregnancy with confirmed maternal CMV infection, treated or untreated with valacyclovir. The primary outcome was the incidence of congenital CMV infection confirmed by a positive CMV polymerase chain reaction result of the amniotic fluid. The secondary outcomes were symptomatic and asymptomatic infection, perinatal death, termination of pregnancy, anomalies detected on follow-up ultrasound, on fetal magnetic resonance imaging or at birth, severe and mild-to-moderate symptoms due to congenital CMV infection, neurological, visual and hearing symptoms, and adverse events related to valacyclovir. Risk of bias was assessed using the revised Cochrane risk-of-bias tool for randomized trials (RoB 2) or Risk Of Bias In Non-randomized Studies of Interventions (ROBINS-I) tool, as appropriate. Head-to-head meta-analyses were used to compare the risk of each of the explored outcomes according to whether pregnancies with maternal CMV infection were treated with prenatal valacyclovir therapy.
RESULTS
Eight studies (620 women) were included. Pregnancies treated with valacyclovir had a significantly lower risk of congenital CMV infection compared with those not receiving valacyclovir (three studies; 325 fetuses; pooled odds ratio (OR), 0.37 (95% CI, 0.21-0.64); I = 0%; P < 0.001). When stratifying the analysis according to gestational age at maternal infection, the risk of vertical transmission was significantly lower in pregnancies receiving valacyclovir following first-trimester maternal infection (three studies; 184 fetuses; pooled OR, 0.34 (95% CI, 0.15-0.74); I = 20.9%; P = 0.001), while there was no significant difference between the two groups in those acquiring CMV infection in the periconceptional period or in the third trimester of pregnancy. Only one study reported on the risk of vertical transmission in women infected in the second trimester, demonstrating a lower risk of congenital infection in women taking valacyclovir, although this was based on a small number of cases. Pregnancies treated with valacyclovir therapy had an increased likelihood of asymptomatic congenital CMV infection compared with those not receiving valacyclovir (two studies; 132 fetuses; pooled OR, 2.98 (95% CI, 1.18-7.55); I = 0%; P = 0.021), while there was no significant difference between the two groups in the risk of perinatal death (P = 0.923), termination of pregnancy (P = 0.089), anomalies detected at follow-up imaging assessment during pregnancy or at birth (P = 0.934) and symptoms due to CMV infection in the newborn (P = 0.092). The occurrence of all adverse events in pregnant individuals taking valacyclovir was 3.17% (95% CI, 1.24-5.93%) (six studies; 210 women), with 1.71% (95% CI, 0.41-3.39%) experiencing acute renal failure, which resolved after discontinuation of the drug. On GRADE assessment, the quality of evidence showing that valacyclovir reduced the risk of congenital CMV infection and adverse perinatal outcome was very low.
CONCLUSIONS
Prenatal valacyclovir administration in pregnancies with maternal CMV infection reduces the risk of congenital CMV infection. Further evidence is needed to elucidate whether valacyclovir can affect the course of infection in the fetus and the risk of symptomatic fetal or neonatal infection. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Female; Humans; Infant, Newborn; Pregnancy; Amniotic Fluid; Cytomegalovirus Infections; Infectious Disease Transmission, Vertical; Perinatal Death; Pregnancy Complications, Infectious; Prenatal Care; Valacyclovir
PubMed: 36484439
DOI: 10.1002/uog.26136 -
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 -
BMC Pregnancy and Childbirth Dec 2022Cell-Free DNA (cfDNA) is a non-invasive perinatal test (NIPT) used to assess fetal anomalies. The ability to detect fetal chromosomal aneuploidies is directly related to... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Cell-Free DNA (cfDNA) is a non-invasive perinatal test (NIPT) used to assess fetal anomalies. The ability to detect fetal chromosomal aneuploidies is directly related to a sample's fetal to total DNA fraction, known as the fetal fraction (FF). The minimum FF is considered 4%, and the test result below 4% is uncertain due to low fetal fraction (LFF). This study aimed to conduct a systematic review and a meta-analysis to determine the possible factors affecting LFF in cfDNA testing for fetal screening.
METHODS
PubMed, Web of Science, Google Scholar, Since Direct, Scopus, CINHAL, Cochrane Library, and Persian databases, including Scientific Information Database, Irandoc, and Magiran were searched for studies investigating factors affecting LFF in cfDNA testing from 2000 until the end of 2021. Gathered data were analyzed using Comprehensive Meta-Analysis (CMA) software version 3.3.070. The quality of the included studies was assessed using the Joanna Briggs Institute Critical Appraisal of Cohort Studies tool.
RESULTS
Thirteen articles related to the topic were included, and seven related articles were reviewed for meta-analysis. The other six were reviewed qualitatively. Four factors were identified that might have a potential effect on the LFF, of which only gestational age had a significant association with LFF (Pooled mean difference= -1.111, SE = 0.515, 95% CI= -2.121, -0.101, (P-value < 0.05)). Maternal age (P-value = 0.573), maternal weight (P-value = 0.113), and Body Mass Index (P-value = 0.104) had no statically significant effect. The effect size was pooled by mean difference and 95% confidence interval.
CONCLUSION
Lower gestational age is significantly associated with LFF. Thus, this factor can be considered when interpreting prenatal cfDNA screening tests.
Topics: Pregnancy; Female; Humans; Cell-Free Nucleic Acids; Prenatal Diagnosis
PubMed: 36482322
DOI: 10.1186/s12884-022-05224-7