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Children (Basel, Switzerland) Feb 2022Tetralogy of Fallot (TOF) represents between 7 and 10% of the total cases of congenital heart defects (CHD) and is estimated to be the most common cyanotic CHD,... (Review)
Review
BACKGROUND
Tetralogy of Fallot (TOF) represents between 7 and 10% of the total cases of congenital heart defects (CHD) and is estimated to be the most common cyanotic CHD, requiring medical or surgical intervention within the first year of life. Current advances in prenatal screening and fetal echocardiography led to increased rates of prenatal diagnosis of TOF. Furthermore, improvements in initial medical care, surgical repair, and long-term care are associated with excellent long-term survival until adulthood. Consequently, issues of morbidity have come under the spotlight, specifically neurodevelopmental and psychiatric adverse outcomes, which affect the quality of life of TOF survivors.
METHOD
This study is a systematic review of English articles, using PUBMED and applying the following search terms, Tetralogy of Fallot, neurodevelopment, autism, cerebral palsy, attention-deficit hyperactivity disorder. Data were extracted by two authors.
RESULTS
Most researchers suggest that TOF survivors score lower in neurodevelopmental tests than healthy populations of the same age and are in danger of neurodevelopmental impairments. Furthermore, it is suggested that TOF adolescents show higher rates of psychiatric disorders.
CONCLUSIONS
The neurodevelopment of TOF survivors is not intensively studied. Existing studies in TOF survivors focus on different developmental aspects, using different evaluation methods and thus making conclusions for either one of the four aspects of neurodevelopment (executive function, cognition, and adaptive function, speech-language and motor function, or neuropsychiatric domain). The poor outcomes of these isolated studies indicate the need for future research as well as for continuous neuropsychological assessment and close monitoring of children and adolescents with TOF.
PubMed: 35204984
DOI: 10.3390/children9020264 -
Developmental Medicine and Child... Feb 2021To determine how the severity of antenatally diagnosed germinal matrix-intraventricular hemorrhage (GMH-IVH) relates to morbidity and mortality, and to explore potential... (Meta-Analysis)
Meta-Analysis
AIM
To determine how the severity of antenatally diagnosed germinal matrix-intraventricular hemorrhage (GMH-IVH) relates to morbidity and mortality, and to explore potential risk factors.
METHOD
We conducted a systematic review and individual patient data meta-analysis of antenatally diagnosed fetal GMH-IVH. The primary outcomes were mortality and morbidity. Potential associations with clinical factors during pregnancy were explored. Analysis employed Fisher's exact test and logistic regression.
RESULTS
We included 240 cases from 80 studies. Presence of venous infarction was associated with mortality (odds ratio [OR] 4.3, 95% confidence interval [CI] 1.4-13.25), motor impairment (OR 103.2, 95% CI 8.6-1238), epilepsy (OR 6.46, 95% CI 2.64-16.06), and developmental delay (OR 8.55, 95% CI 2.12-48.79). Shunt placement was associated with gestational age at GMH-IVH diagnosis and in utero progression. Many cases had uncomplicated pregnancies but possible co-occurring conditions included twin gestation, small for gestational age, and congenital anomalies.
INTERPRETATION
Severity of fetal GMH-IVH, specifically venous infarction, is associated with overall mortality and morbidity. Risk factors for fetal GMH-IVH are poorly understood and controlled studies are required.
WHAT THIS PAPER ADDS
Preterm germinal matrix-intraventricular hemorrhage (GMH-IVH) grading can be applied to fetuses. Many fetal germinal matrix hemorrhages occur in otherwise typical pregnancies. Half of fetuses with post-hemorrhagic ventricular dilatation receive a shunt after delivery. Fetuses with grade I or II GMH-IVH have few sequelae. Fetuses with periventricular hemorrhagic infarction have a high burden of motor impairment.
Topics: Cerebral Infarction; Cerebral Intraventricular Hemorrhage; Female; Fetal Diseases; Humans; Infant, Newborn; Male; Pregnancy; Prenatal Diagnosis
PubMed: 33094492
DOI: 10.1111/dmcn.14713 -
Journal of Ultrasound in Medicine :... Nov 2015The purpose of this study was to evaluate the prenatal findings and postnatal outcomes in fetuses with congenital megalourethra. (Review)
Review
OBJECTIVES
The purpose of this study was to evaluate the prenatal findings and postnatal outcomes in fetuses with congenital megalourethra.
METHODS
This retrospective study reviewed our experience and the literature between 1989 and 2014. Prenatal findings were evaluated and compared with postnatal findings, including neonatal mortality and abnormal renal function (need for dialysis or renal transplantation).
RESULTS
Fifty fetuses with congenital megalourethra were analyzed, including 6 cases diagnosed in our centers. Most cases (n = 43 [86.0%]) were diagnosed in the second trimester. Only 1 case was diagnosed in the first trimester, whereas 6 cases (12.0%) were diagnosed in the third trimester. Thirty-five fetuses (70.0%) survived. Bilateral hydroureters were associated with perinatal death (P= .024). Among the survivors, 41.9% of the neonates had renal impairment. The following factors were associated with postnatal renal impairment: presence of severe oligohydramnios/anhydramnios (P = .033), bilateral hydronephrosis (P = .008), and earlier gestational age at delivery (P = .022).
CONCLUSIONS
In fetal megalourethra, bilateral hydroureters, bilateral hydronephrosis, and severe oligohydramnios/anhydramnios are associated with neonatal mortality and renal impairment.
Topics: Causality; Cohort Studies; Comorbidity; Female; Humans; Incidence; Infant; Infant Mortality; Infant, Newborn; Male; Prognosis; Renal Insufficiency; Reproducibility of Results; Risk Factors; Sensitivity and Specificity; Survival Rate; Ultrasonography, Prenatal; Urethra; Urogenital Abnormalities
PubMed: 26446816
DOI: 10.7863/ultra.14.12064 -
Ultrasound in Obstetrics & Gynecology :... May 2015The accuracy of prenatal ultrasound examination in detecting jejunal and ileal atresia has been reported in the literature to be highly variable, at 25-90%. The aim of... (Review)
Review
OBJECTIVE
The accuracy of prenatal ultrasound examination in detecting jejunal and ileal atresia has been reported in the literature to be highly variable, at 25-90%. The aim of this systematic review was to evaluate the accuracy of prenatal ultrasound in detecting non-duodenal small bowel atresia (ND-SBA).
METHODS
MEDLINE, EMBASE and The Cochrane Library, including The Cochrane Database of Systematic Reviews (CDSR), Database of Abstracts of Reviews of Effects (DARE) and The Cochrane Central Register of Controlled Trials (CENTRAL), were searched electronically. The overall detection rate of jejunal or ileal atresia using ultrasound was reported. The accuracy of using polyhydramnios and dilated loops of bowel as diagnostic signs was also explored.
RESULTS
Sixteen studies involving 640 fetuses were included in this review. The detection rate of ND-SBA by prenatal ultrasound was highly variable, with values ranging from 10 to 100%, with an overall prediction of 50.6% (95% CI, 38.0-63.2%). When analyzed separately, the detection rates of jejunal and ileal atresia were 66.3%, (95% CI, 33.9-91.8%) and 25.9% (95% CI, 4.0-58.0%), respectively. Both dilated loops of bowel and polyhydramnios as diagnostic signs for ND-SBA provided a low overall detection rate.
CONCLUSIONS
The diagnostic performance of prenatal ultrasound in identifying ND-SBA is extremely variable. Large studies are needed in order to identify objective and combined criteria for the diagnosis of these anomalies.
Topics: Female; Humans; Ileum; Infant, Newborn; Intestinal Atresia; Intestine, Small; Jejunum; Pregnancy; Reproducibility of Results; Sensitivity and Specificity; Ultrasonography, Prenatal
PubMed: 25157626
DOI: 10.1002/uog.14651 -
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 -
Ultrasound in Obstetrics & Gynecology :... May 2021To derive accurate estimates of perinatal survival in pregnancies with and without a prenatal diagnosis of vasa previa based on a systematic review of the literature and... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
To derive accurate estimates of perinatal survival in pregnancies with and without a prenatal diagnosis of vasa previa based on a systematic review of the literature and meta-analysis.
METHODS
A search of MEDLINE, EMBASE and The Cochrane Library was performed to review relevant citations reporting on the perinatal outcomes of pregnancies with vasa previa. We included prospective and retrospective cohort and population studies that provided data on pregnancies with a prenatal diagnosis of vasa previa or cases diagnosed at birth or following postnatal placental examination. Meta-analysis using a random-effects model was performed to derive weighted pooled estimates of perinatal survival (excluding stillbirths and neonatal deaths) and intact perinatal survival (additionally excluding hypoxic morbidity). Incidence rate difference (IRD) meta-analysis was used to estimate the significance of differences in pooled proportions between cases of vasa previa with and those without a prenatal diagnosis. Heterogeneity between studies was estimated using Cochran's Q and the I statistic.
RESULTS
We included 21 studies reporting on the perinatal outcomes of 683 pregnancies with a prenatal diagnosis of vasa previa. There were three stillbirths (1.01% (95% CI, 0.40-1.87%)), five neonatal deaths (1.19% (95% CI, 0.52-2.12%)) and 675 surviving neonates, resulting in a pooled estimate for perinatal survival of 98.6% (95% CI, 97.6-99.3%). Based on seven studies that included cases of vasa previa with and without a prenatal diagnosis, the pooled perinatal survival in pregnancies without a prenatal diagnosis (61/118) was 72.1% (95% CI, 50.6-89.4%) vs 98.6% (95% CI, 96.7-99.7%) in cases with a prenatal diagnosis (224/226). Therefore, the risk of perinatal death was 25-fold higher when a diagnosis of vasa previa was not made antenatally, compared with when it was (odds ratio (OR), 25.39 (95% CI, 7.93-81.31); P < 0.0001). Similarly, the risk of hypoxic morbidity was increased 50-fold in cases with vasa previa without a prenatal diagnosis compared with those with a prenatal diagnosis (36/61 vs 5/224; OR, 50.09 (95% CI, 17.33-144.79)). The intact perinatal survival rate in cases of vasa previa without a prenatal diagnosis was significantly lower than in those with a prenatal diagnosis (28.1% (95% CI, 14.1-44.7%) vs 96.7% (95% CI, 93.6-98.8%)) (IRD, 73.4% (95% CI, 53.9-92.7%); Z = -7.4066, P < 0.001).
CONCLUSIONS
Prenatal diagnosis of vasa previa is associated with a high rate of perinatal survival, whereas lack of an antenatal diagnosis significantly increases the risk of perinatal death and hypoxic morbidity. Further research should be undertaken to investigate strategies for incorporating prenatal screening for vasa previa into routine clinical practice. © 2020 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Female; Humans; Infant, Newborn; Perinatal Mortality; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Prospective Studies; Retrospective Studies; Vasa Previa
PubMed: 32735754
DOI: 10.1002/uog.22166 -
The Journal of Obstetrics and... Jul 2023To identify the additional diagnostic value of CNV-seq over conventional karyotyping on the part of chromosomal abnormalities in prenatal diagnosis. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To identify the additional diagnostic value of CNV-seq over conventional karyotyping on the part of chromosomal abnormalities in prenatal diagnosis.
METHOD
This was a systematic review conducted in accordance with PRISMA criteria. In order to clarify related research, PubMed, Web of Science databases (including Core Collection, BIOSIS Previews, MEDLINE, and so on), The Cochrane Library and Wiley Online Library were searched with the terms: "prenatal diagnosis," "CNV-seq," "karyotyping," published from January 2010 to May 2022. No language restrictions. RenMan 5.4 was used for the meta-analysis.
RESULTS
Eight studies were included in this systemic review and meta-analysis, including 11 091 pregnant women with high-risk pregnancy factors or with structurally abnormal fetus under ultrasound. CNV-seq detected a 2% (95% CI, -0% to 4%) additional chromosomal anomalies over conventional karyotyping in the six series. A 4% (95% CI, 3%-6%) pooled mean incremental yield of pathogenic CNVs by CNV-seq over karyotyping was observed, with a 1%-16% range.
CONCLUSION
CNV-seq, applied in prenatal diagnosis, may detect more chromosomal abnormalities when compared with karyotyping. With the advantages of wide coverage, high throughput, high resolution, no culture, good compatibility, and adjustable sequencing depth, CNV-seq has high application value in prenatal diagnosis.
Topics: Pregnancy; Female; Humans; Karyotyping; Chromosome Aberrations; Prenatal Diagnosis; Chromosome Disorders; Pregnancy, High-Risk; DNA Copy Number Variations
PubMed: 37037422
DOI: 10.1111/jog.15652 -
Ultrasound in Obstetrics & Gynecology :... Jul 2016Diagnosis of isolated posterior fossa anomalies in children is biased by the fact that only those that are symptomatic are brought to the attention of the appropriate... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
Diagnosis of isolated posterior fossa anomalies in children is biased by the fact that only those that are symptomatic are brought to the attention of the appropriate clinical personnel, and the reported rate is often affected by the adoption of different nomenclature, diagnostic criteria, outcome measures, duration of follow-up and neurodevelopmental tools. The aim of this systematic review was to explore the neurodevelopmental outcome of fetuses with a prenatal diagnosis of isolated posterior fossa anomalies.
METHODS
MEDLINE and EMBASE were searched electronically, utilizing combinations of the relevant medical subject heading terms for 'posterior fossa' and 'outcome'. Studies assessing the neurodevelopmental outcome in children with a prenatal diagnosis of isolated posterior fossa malformations were considered eligible. The posterior fossa anomalies analyzed included Dandy-Walker malformation (DWM), mega cisterna magna (MCM), Blake's pouch cyst (BPC) and vermian hypoplasia (VH). Two authors reviewed all abstracts independently. Quality assessment of the included studies was performed using the Newcastle-Ottawa Scale for cohort studies. Meta-analyses of proportions were used to combine data, and between-study heterogeneity was explored using the I(2) statistic.
RESULTS
A total of 1640 articles were identified; 95 were assessed for eligibility and a total of 16 studies were included in the systematic review. The overall rate of abnormal neurodevelopmental outcome in children with a prenatal diagnosis of DWM was 58.2% (95% CI, 21.8-90.0%) and varied from 0-100%. In those with a prenatal diagnosis of MCM, the rate of abnormal neurodevelopmental outcome was 13.8% (95% CI, 7.3-21.9%), with a range of 0-50%. There was no significant association between BPC and the occurrence of abnormal neurodevelopmental delay, with a rate of 4.7% (95% CI, 0.7-12.1%) and range of 0-5%. Although affected by the very small number of studies, there was a non-significant occurrence of abnormal neurodevelopmental delay in children with a prenatal diagnosis of VH, with a rate of 30.7% (95% CI, 0.6-79.1%) and range of 0-100%.
CONCLUSIONS
Fetuses diagnosed with isolated DWM are at high risk of abnormal neurodevelopmental outcome, while isolated MCM or BPC have a generally favorable outcome. The risk of abnormal developmental delay in cases with isolated VH needs to be further assessed. In view of the wide heterogeneity in study design, time of follow-up, neurodevelopmental tests used and the very small number of included cases, further future large prospective studies with standardized and objective protocols for diagnosis and follow-up are needed in order to ascertain the rate of abnormal neurodevelopmental outcome in children with isolated posterior fossa anomalies. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.
Topics: Cranial Fossa, Posterior; Female; Humans; Magnetic Resonance Imaging; Nervous System Malformations; Pregnancy; Pregnancy Outcome; Ultrasonography, Prenatal
PubMed: 26394557
DOI: 10.1002/uog.15755 -
Prenatal Diagnosis Sep 2017The purpose of this systematic review is to provide a comprehensive overview on the clinical course, perinatal outcome, and effectiveness of prenatal management options... (Review)
Review
OBJECTIVES
The purpose of this systematic review is to provide a comprehensive overview on the clinical course, perinatal outcome, and effectiveness of prenatal management options for pericardial teratoma.
METHODS
A comprehensive search including Ovid MEDLINE, Ovid EMBASE, and Scopus was conducted from inception to September 2016. All studies that reported the prenatal course of pericardial teratoma in singleton or twin gestations were considered eligible. Standardized forms were used for data abstraction by two independent reviewers.
RESULTS
Out of 217 screened abstracts, 59 studies reporting 67 fetuses with pericardial teratoma were included. Twenty-three singleton fetuses and 3 fetuses in twin gestations underwent prenatal treatment, and 20 (76.9%) of them were hydropic at the time of intervention. Of those, 15/20 (75%) had a favorable outcome. In the non-intervention group (n = 41), 26 (63.4%) developed hydrops, and out of those, 8 (30.8%) had a favorable outcome.
CONCLUSION
Prenatal fluid drainage and other prenatal techniques have been utilized in the treatment of intrapericardial teratoma. While most fetuses tolerated pericardiocentesis, the neonatal benefit of this procedure is still uncertain, and outcomes of other interventions had variable success. Prenatal intervention for pericardial teratoma may be an option in specialized units but, given the maternal and fetal risks, needs careful consideration. © 2017 John Wiley & Sons, Ltd.
Topics: Diseases in Twins; Drainage; Female; Fetal Diseases; Fetal Heart; Heart Neoplasms; Humans; Hydrops Fetalis; MEDLINE; Male; Pericardium; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Risk Factors; Teratoma
PubMed: 28695637
DOI: 10.1002/pd.5113 -
American Journal of Obstetrics &... Aug 2020To systematically review published literature and calculate the prevalence of vasa previa and its known risk factors. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To systematically review published literature and calculate the prevalence of vasa previa and its known risk factors.
MATERIALS AND METHODS
MEDLINE, Embase, the Cochrane Library, PubMed (non-MEDLINE and in process), and www.clinicaltrials.gov were searched from inception to March 2018 using indexing terms "vasa previa," "placenta previa," "low lying placenta," "succenturiate lobe," "bilobate placenta," "bilobed placenta," and "velamentous insertion." All original research studies reporting on 5 or more pregnancies with vasa previa were included. The search was limited to studies on human data and those published in the English language. Two reviewers independently screened titles and abstracts, completed data extraction, and assessed reporting quality using the Study Quality Assessment Tool for Case Series Studies of the National Heart, Lung, and Blood Institute. Disagreements were discussed and resolved at each step of the process.
RESULTS
We included 21 studies that reported 428 pregnancies with vasa previa of 1,027,918 deliveries (0.46 cases of vasa previa per 1000 deliveries). These studies fared well on risk of bias assessment using the Study Quality Assessment Tool for Case Series Studies of the National Heart, Lung, and Blood Institute. The prevalence and 95% confidence intervals of known risk factors for vasa previa included a low-lying placenta (61.5%, 53.0%-70.0%), velamentous cord insertion (52.2%, 39.6%-64.7%), bilobed or succenturiate lobed placenta (33.3%, 20.9%-45.7%), use of in vitro fertilization (26.4%, 16.0%-36.8%), and multiple gestation (8.92%, 5.33%-12.5%).
CONCLUSION
Vasa previa affects 0.46 cases per 1000 pregnancies. Given the high prevalence of prenatally detectable risk factors in affected pregnancies, the cost-effectiveness of screening strategies for vasa previa either in isolation, using a risk factor-based approach, or universally, in tandem with cervical-length screening using transvaginal ultrasound, should be revisited.
Topics: Female; Humans; Placenta; Placenta Previa; Pregnancy; Risk Factors; Ultrasonography, Prenatal; Vasa Previa
PubMed: 33345868
DOI: 10.1016/j.ajogmf.2020.100117