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Ultrasound in Obstetrics & Gynecology :... Feb 2023Cytomegalovirus (CMV) DNA is detectable in the amniotic fluid collected by amniocentesis in cases in which the fetus has been infected. However, cases of congenital... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
Cytomegalovirus (CMV) DNA is detectable in the amniotic fluid collected by amniocentesis in cases in which the fetus has been infected. However, cases of congenital neonatal CMV infection with a negative amniocentesis result have also been reported in the literature. The aim of the present study was to compare pregnancies with a negative amniocentesis result to those with a positive amniocentesis result in terms of incidence of fetal insult and long-term sequelae.
METHODS
Observational studies that included pregnant women with CMV infection who underwent amniocentesis and that reported their results together with neonatal and/or long-term outcomes of the offspring were included. The risk of bias in included studies was assessed using the Newcastle-Ottawa Scale. The rate of severe symptoms at birth, defined as neurological symptoms or multiorgan involvement at birth, and the rate of severe sensorineural hearing loss (SNHL) and/or neurodevelopmental impairment at follow-up were the main outcomes of the study. The secondary outcome was the rate of pregnancy termination due to the presence of CMV-associated central nervous system (CNS) findings or multiorgan involvement on ultrasound/magnetic resonance imaging (MRI).
RESULTS
Seven studies were included in the systematic review and meta-analysis. The pooled false-negative rate of amniocentesis was 8.0% (95% CI, 5.0-13.0%). The pooled rate of severe symptoms at birth was 0.0% (95% CI, 0.0-1.0%; I = 0%) in fetuses with a negative amniocentesis result and 22.0% (95% CI, 11.0-38.0%; I = 75%) in those with a positive amniocentesis result. The pooled odds ratio (OR) was 0.03 (95% CI, 0.01-0.10; I = 0%). The pooled rate of severe SNHL and/or neurodevelopmental impairment at follow-up in fetuses with a negative amniocentesis result was 0.0% (95% CI, 0.0-1.0%; I = 0%) and, in those with a positive amniocentesis result, it was 14.0% (95% CI, 7.0-26.0%; I = 64%). The pooled OR was 0.04 (95% CI, 0.01-0.14; I = 0%). The pooled rate of pregnancy termination due to the presence of CMV-associated CNS findings or multiorgan involvement on ultrasound/MRI was 0.0% (95% CI, 0.0-2.0%; I = 0%) in fetuses with a negative amniocentesis result and 20.0% (95% CI, 10.0-36.0%; I = 82%) in those with a positive amniocentesis result. The pooled OR was 0.03 (95% CI, 0.01-0.08; I = 0%). A subgroup analysis including only pregnancies with primary CMV infection and a sensitivity analysis including only prospective studies were carried out, showing very similar results to those of the main analysis.
CONCLUSION
A negative amniocentesis result in pregnant women with CMV infection ensures lack of fetal insult and long-term sequelae to the child, even if transmission has occurred. © 2022 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; Child; Pregnancy; Infant; Female; Humans; Amniocentesis; Pregnancy Complications, Infectious; Prospective Studies; Cytomegalovirus; Cytomegalovirus Infections; Infectious Disease Transmission, Vertical; Observational Studies as Topic
PubMed: 36412976
DOI: 10.1002/uog.26128 -
Systematic Reviews Jan 2018Intra-amniotic inflammation is associated with adverse pregnancy and neonatal outcomes. However, the impact on child neurodevelopment remains unclear. We aim to assess... (Review)
Review
BACKGROUND
Intra-amniotic inflammation is associated with adverse pregnancy and neonatal outcomes. However, the impact on child neurodevelopment remains unclear. We aim to assess the effect of intra-amniotic inflammation on neurodevelopmental outcomes in children.
METHODS
The databases MEDLINE, Embase, CINAHL, and Cochrane will be searched from their inception until November 2017. Randomized trials and cohort studies in which inflammatory markers were measured in amniotic fluid collected by amniocentesis and in which infant's neurodevelopment was assessed will be eligible. Two reviewers will independently select eligible studies, assess their risk of bias, and extract data. Results will be compared and a third party will be consulted in case of disagreement. Our primary outcome of interest is child neurodevelopment, assessed with either a validated tool or by revision of medical records for specific diagnosis. Secondary outcomes will include abnormal brain imaging. Relative risks will be pooled and sensitivity analyses will be performed for the indication of amniocentesis, gestational age at amniocentesis, gestational age at delivery, and fetal sex. Risk of bias will be assessed using the Cochrane Collaboration's tool for assessing the risk of bias in randomized trials or an adapted version of the ROBINS-1 for the risk of bias in non-randomized studies.
DISCUSSION
This systematic review will report the current evidence regarding the association between amniotic inflammation and child neurodevelopment, and the modifiers of this association. The review will generate new hypotheses on pathological pathways and will guide future research.
SYSTEMATIC REVIEW REGISTRATION
PROSPERO 2017 65065.
Topics: Amniocentesis; Amniotic Fluid; Biomarkers; Brain; Child Development; Female; Fetal Membranes, Premature Rupture; Humans; Infant; Inflammation; Pregnancy; Pregnancy Complications; Systematic Reviews as Topic
PubMed: 29357925
DOI: 10.1186/s13643-018-0683-z -
Amniocentesis to diagnose congenital cytomegalovirus infection following maternal primary infection.American Journal of Obstetrics &... Jul 2022Congenital cytomegalovirus infection following maternal primary cytomegalovirus infection affects approximately 0.4% of newborns in the United States but may be hard to... (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND
Congenital cytomegalovirus infection following maternal primary cytomegalovirus infection affects approximately 0.4% of newborns in the United States but may be hard to diagnose prenatally.
OBJECTIVE
To evaluate the current sensitivity and specificity of amniocentesis in detecting congenital cytomegalovirus infection.
STUDY DESIGN
Secondary analysis of a multicenter randomized placebo-controlled trial designed to evaluate whether cytomegalovirus hyperimmune globulin reduces congenital cytomegalovirus infection in neonates of individuals diagnosed with primary cytomegalovirus infection before 24 weeks of gestation. At randomization, subjects had no clinical evidence of fetal infection. Eligible subjects were randomized to monthly infusions of cytomegalovirus hyperimmune globulin or placebo until delivery. Although not required by the trial protocol, amniocentesis following randomization was permitted. The fetuses and neonates were tested for the presence of cytomegalovirus at delivery. Comparisons were made between those with and without amniocentesis and between those with cytomegalovirus-positive and negative results, using chi-square or Fisher exact test for categorical variables and the Wilcoxon rank sum test or t test for continuous variables. A P value of <.05 was considered significant.
RESULTS
From 2012 to 2018, 397 subjects were included, of whom 55 (14%) underwent amniocentesis. Cytomegalovirus results were available for 53 fetuses and neonates. Fourteen amniocenteses were positive (25%). Gestational age at amniocentesis was similar between those with and without cytomegalovirus present, as was the interval between maternal diagnosis and amniocentesis. The prevalence of fetal or neonatal infection was 26% (14/53). The neonates of all 12 subjects with a positive amniocentesis and available results had cytomegalovirus infection confirmed at delivery, as did 2 neonates from the group of 41 subjects with a negative amniocentesis, with a sensitivity of 86% (95% confidence interval, 57-98), specificity of 100% (95% confidence interval, 91-100), positive predictive value of 100% (95% confidence interval, 74-100), and negative predictive value of 95% (95% confidence interval, 83-99). Amniocentesis-positive pregnancies were delivered at an earlier gestational age (37.4 vs 39.6 weeks; P<.001) and had lower birthweights (2583±749 vs 3428±608 g, P=.004) than amniocentesis-negative pregnancies.
CONCLUSION
Amniocentesis results are an accurate predictor of congenital cytomegalovirus infection.
Topics: Amniocentesis; Cytomegalovirus; Cytomegalovirus Infections; Female; Humans; Infant; Infant, Newborn; Infectious Disease Transmission, Vertical; Pregnancy; Pregnancy Complications, Infectious
PubMed: 35526782
DOI: 10.1016/j.ajogmf.2022.100641 -
Human Genetics Sep 2020Next-generation sequencing and other genomic technologies are transforming prenatal and reproductive screening and testing for fetal genetic disorders at an... (Review)
Review
Next-generation sequencing and other genomic technologies are transforming prenatal and reproductive screening and testing for fetal genetic disorders at an unprecedented pace. Original approaches of screening and testing for fetal genetic and genomic disorders were focused on a few more prevalent conditions that were easily diagnosable with pre-genomic era diagnostic tools. First, chromosomal microarray analysis and then next-generation sequencing brought technology capable of more detailed genomic evaluation to prenatal genetic screening and diagnosis. This has facilitated parallel introduction of a variety of new tests on maternal blood samples, including expanded carrier screening and cell-free DNA-based non-invasive screening for fetal aneuploidy, selected copy number variants, and single-gene disorders. Genomic tests on fetal DNA samples, obtained primarily through amniocentesis or chorionic villus sampling, include chromosomal microarray analysis and gene panel and exome sequencing. All these form the diagnostic pillar of the emerging field of fetal precision medicine, but their implementation is associated with ethical, counseling and healthcare resource utilization challenges. We discuss where in the reproductive and prenatal care continuum these exciting new technologies are integrated, along with associated challenges. We propose areas of priority for research to gain the data in support of their responsible implementation into clinical reproductive and prenatal care.
Topics: Amniocentesis; Chorionic Villi Sampling; Female; Fetus; Genetic Diseases, Inborn; Genetic Testing; Genome; High-Throughput Nucleotide Sequencing; Humans; Precision Medicine; Pregnancy; Prenatal Care; Whole Genome Sequencing
PubMed: 31754893
DOI: 10.1007/s00439-019-02088-4 -
Ultraschall in Der Medizin (Stuttgart,... Jun 2023Diagnostic puncture (amniocentesis, chorionic villus sampling, and fetal blood sampling) is an essential part of prenatal diagnostics and the only established and... (Review)
Review
Diagnostic puncture (amniocentesis, chorionic villus sampling, and fetal blood sampling) is an essential part of prenatal diagnostics and the only established and sufficiently scientifically evaluated possibility of diagnosing genetic diseases from pregnancy-specific cells. The number of diagnostic punctures in Germany, as in other countries, has fallen significantly. This is largely due to the introduction of first-trimester screening with further detailed ultrasound examination of the fetus and the analysis of cf-DNA (cell-free DNA) from maternal blood (noninvasive prenatal test - NIPT). On the other hand, knowledge about the incidence and appearance of genetic diseases has increased. The development of modern molecular genetic techniques (microarray and exome analysis) makes a differentiated investigation of these diseases increasingly possible. The requirements for education and counseling regarding these complex correlations have thus increased. The studies performed in recent years make it clear that diagnostic puncture performed in expert centers is associated with a low risk of complications. In particular, the procedure-related miscarriage risk hardly differs from the background risk for spontaneous abortion. In 2013, the Section of Gynecology and Obstetrics of the German Society for Ultrasound in Medicine (DEGUM) published recommendations on diagnostic puncture in prenatal medicine 1. The developments described above and new findings in recent years make it necessary to revise and reformulate these recommendations. The aim of this review is to compile important and current facts regarding prenatal medical puncture (including technique, complications, genetic examinations). It is intended to provide basic, comprehensive, and up-to-date information on diagnostic puncture in prenatal medicine. It replaces the publication from 2013 1.
Topics: Pregnancy; Female; Humans; Prenatal Diagnosis; Amniocentesis; Chorionic Villi Sampling; Pregnancy Trimester, First; Genetic Testing
PubMed: 36882109
DOI: 10.1055/a-2014-4505 -
Ultrasound in Obstetrics & Gynecology :... Jan 2015To estimate procedure-related risks of miscarriage following amniocentesis and chorionic villus sampling (CVS) based on a systematic review of the literature and a... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
To estimate procedure-related risks of miscarriage following amniocentesis and chorionic villus sampling (CVS) based on a systematic review of the literature and a meta-analysis.
METHODS
A search of MEDLINE, EMBASE, CINHAL and The Cochrane Library (2000-2014) was performed to review relevant citations reporting procedure-related complications of amniocentesis and CVS. Only studies reporting data on more than 1000 procedures were included in this review to minimize the effect of bias from smaller studies. Heterogeneity between studies was estimated using Cochran's Q, the I(2) statistic and Egger bias. Meta-analysis of proportions was used to derive weighted pooled estimates for the risk of miscarriage before 24 weeks' gestation. Incidence-rate difference meta-analysis was used to estimate pooled procedure-related risks.
RESULTS
The weighted pooled risks of miscarriage following invasive procedures were estimated from analysis of controlled studies including 324 losses in 42 716 women who underwent amniocentesis and 207 losses in 8899 women who underwent CVS. The risk of miscarriage prior to 24 weeks in women who underwent amniocentesis and CVS was 0.81% (95% CI, 0.58-1.08%) and 2.18% (95% CI, 1.61-2.82%), respectively. The background rates of miscarriage in women from the control group that did not undergo any procedures were 0.67% (95% CI, 0.46-0.91%) for amniocentesis and 1.79% (95% CI, 0.61-3.58%) for CVS. The weighted pooled procedure-related risks of miscarriage for amniocentesis and CVS were 0.11% (95% CI, -0.04 to 0.26%) and 0.22% (95% CI, -0.71 to 1.16%), respectively.
CONCLUSION
The procedure-related risks of miscarriage following amniocentesis and CVS are much lower than are currently quoted.
Topics: Abortion, Spontaneous; Amniocentesis; Aneuploidy; Chorionic Villi Sampling; Decision Making; Female; Gestational Age; Humans; Odds Ratio; Patient Education as Topic; Pregnancy; Prenatal Diagnosis; Risk Factors
PubMed: 25042845
DOI: 10.1002/uog.14636 -
Ugeskrift For Laeger Jan 2021The prevalence of people in Denmark descending from areas with a high prevalence of haemoglobinopathies is approximately one tenth and increasing. Since 1995, the Danish... (Review)
Review
The prevalence of people in Denmark descending from areas with a high prevalence of haemoglobinopathies is approximately one tenth and increasing. Since 1995, the Danish Health Authority has recommended haemoglobinopathy screening of pregnant women with ethnic roots outside Northern Europe. Partners of pregnant haemoglobinopathy carriers are also tested. Carrier state in both parents leads to genetic counselling, and prenatal diagnostics of the foetus (chorionic villus biopsy or amniocentesis) is offered, which can lead to abortion and/or preimplantation genetic screening for future pregnancies, as discussed in this review.
Topics: Amniocentesis; Denmark; Europe; Female; Hemoglobinopathies; Humans; Pregnancy; Prenatal Diagnosis
PubMed: 33491643
DOI: No ID Found -
American Journal of Obstetrics and... Dec 2022The assessment and management of patients with threatened midtrimester miscarriage is a clinical challenge because the etiology of this condition is poorly understood.
BACKGROUND
The assessment and management of patients with threatened midtrimester miscarriage is a clinical challenge because the etiology of this condition is poorly understood.
OBJECTIVE
This study aimed to examine the frequency of intraamniotic infection or inflammation and the effect of antibiotics in patients presenting with regular uterine contractions and intact membranes before 20 weeks of gestation.
STUDY DESIGN
This retrospective study comprised patients who met the following criteria: (1) singleton gestation, (2) gestational age before 20 weeks, (3) the presence of regular uterine contractions confirmed by a tocodynamometer (8 or more contractions in 60 minutes), (4) intact amniotic membranes, and (5) transabdominal amniocentesis performed for the evaluation of the microbiologic and inflammatory status of the amniotic cavity. Samples of amniotic fluid were cultured for aerobic and anaerobic bacteria and genital mycoplasmas, and polymerase chain reaction was performed to detect Ureaplasma species. Amniotic fluid was tested for white blood cell counts and matrix metalloproteinase-8 concentrations to diagnose intraamniotic inflammation. Patients with intraamniotic inflammation, or intraamniotic infection, were treated with antibiotics (a combination of ceftriaxone, clarithromycin, and metronidazole). Treatment success was defined as the resolution of intraamniotic infection/inflammation at the follow-up amniocentesis or delivery after 34 weeks of gestation.
RESULTS
1) Intraamniotic inflammation was present in 88% (15/17) of patients, whereas infection was detectable in only 2 cases; 2) objective evidence of resolution of intraamniotic inflammation after antibiotic treatment was demonstrated in 100% (4/4) of patients who underwent a follow-up amniocentesis; 3) 30% (5/15) of women receiving antibiotics delivered after 34 weeks of gestation (3 of the 5 patients had a negative follow-up amniocentesis, and 2 of the women were without a follow-up amniocentesis); 4) the overall treatment success of antibiotics was 40% (6/15; 4 cases of objective evidence of resolution of intra-amniotic inflammation and 5 cases of delivery after 34 weeks of gestation).
CONCLUSION
The prevalence of intraamniotic inflammation in patients who presented with a threatened midtrimester miscarriage was 88% (15/17), and, in most cases, microorganisms could not be detected. Antibiotic treatment, administered to patients with intraamniotic inflammation, was associated with either objective resolution of intraamniotic inflammation or delivery after 34 weeks of gestation in 40% (6/15) of the cases.
Topics: Female; Humans; Pregnancy; Abortion, Spontaneous; Abortion, Threatened; Amniocentesis; Amniotic Fluid; Anti-Bacterial Agents; Chorioamnionitis; Inflammation; Pregnancy Trimester, Second; Retrospective Studies
PubMed: 35843271
DOI: 10.1016/j.ajog.2022.07.007 -
Scientific Reports Jun 2021The amniotic fluid (AF) cell-free RNA was shown to reflect physiological and pathological processes in pregnancy, but its value in the prediction of spontaneous preterm... (Clinical Trial)
Clinical Trial
The amniotic fluid (AF) cell-free RNA was shown to reflect physiological and pathological processes in pregnancy, but its value in the prediction of spontaneous preterm delivery is unknown. Herein we profiled cell-free RNA in AF samples collected from women who underwent transabdominal amniocentesis after an episode of spontaneous preterm labor and subsequently delivered within 24 h (n = 10) or later (n = 28) in gestation. Expression of known placental single-cell RNA-Seq signatures was quantified in AF cell-free RNA and compared between the groups. Random forest models were applied to predict time-to-delivery after amniocentesis. There were 2385 genes differentially expressed in AF samples of women who delivered within 24 h of amniocentesis compared to gestational age-matched samples from women who delivered after 24 h of amniocentesis. Genes with cell-free RNA changes were associated with immune and inflammatory processes related to the onset of labor, and the expression of placental single-cell RNA-Seq signatures of immune cells was increased with imminent delivery. AF transcriptomic prediction models captured these effects and predicted delivery within 24 h of amniocentesis (AUROC = 0.81). These results may inform the development of biomarkers for spontaneous preterm birth.
Topics: Adult; Amniocentesis; Amniotic Fluid; Cell-Free Nucleic Acids; Cross-Sectional Studies; Female; Gene Expression Regulation; Humans; Obstetric Labor, Premature; Pregnancy; RNA-Seq; Retrospective Studies
PubMed: 34188072
DOI: 10.1038/s41598-021-92439-x -
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