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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 -
Journal of Perinatal Medicine Dec 2017To describe the clinical features of mirror syndrome and to correlate the effects of different treatments with the fetal outcomes. (Review)
Review
OBJECTIVES
To describe the clinical features of mirror syndrome and to correlate the effects of different treatments with the fetal outcomes.
DATA SOURCES
Online search up to May 2016 was conducted in the PubMed, Embase (Ovid platform) and clinicalTrials.gov without restrictions of language, date or journal. Only papers providing both fetal and maternal presentations and outcomes were included.
RESULTS
The study included 74 papers (n=111), with an additional two patients diagnosed at our center (n=113). The mean gestational age at diagnosis was 27 weeks±30 days (16-39 weeks). Whether early or late gestational age at diagnosis, and whether mother and fetus show symptoms simultaneously or on different dates, has insignificant impact on fetal outcome (P=0.06 and P=0.46, respectively). Edema (84%) followed by hypertension (60.1%) were the leading maternal findings. Fetal hydrops (94.7%) and placental edema (62.8%) were the commonest sonographic features. Procedures correcting fetal hydrops/anemia in utero as well as labor induction were the only treatment options correlated with improved fetal survival (χ2 analysis, P=0.01 and Fisher's exact test, P=0.02; respectively). The overall rate of fetal/neonatal mortality was 67.26%.
CONCLUSION
The gestational age at diagnosis and sequence of presentation have insignificant impact on fetal outcome. Improved fetal survival was associated with procedural interventions that correct fetal hydrops as well as labor induction.
Topics: Adult; Female; Humans; Hydrops Fetalis; Hypertension, Pregnancy-Induced; Pregnancy; Young Adult
PubMed: 28315852
DOI: 10.1515/jpm-2016-0422 -
Blood Cells, Molecules & Diseases Jun 2017All patients with HbSS (SCA) share the same genetic mutation but the clinical phenotype is variable and difficult to predict early in life. A reliable severity predictor... (Meta-Analysis)
Meta-Analysis Review
All patients with HbSS (SCA) share the same genetic mutation but the clinical phenotype is variable and difficult to predict early in life. A reliable severity predictor would be invaluable toward directing therapeutic decisions in those patients at highest risk of SCA complications. A search of PubMed, Cochrane Clinical Trials Register, and Scopus was performed to determine which SCA severity predictors have been validated in pediatric patients. The full text of 94 of the 590 references identified was reviewed based on the title/abstract. Fifty-four articles were included in the analysis. Alpha globin gene number was the most commonly studied severity predictor, followed by fetal hemoglobin (HbF) and reticulocyte count. Alpha thalassemia trait was protective against overt stroke and abnormal transcranial Doppler (TCD) in all but one study, but not frequency of painful crisis or silent cerebral infarct. Two thirds of the HbF studies reported beneficial effects with increasing HbF levels; however, increased HbF levels were not associated with lower hospitalization or stroke rates in others. The ability to predict SCA complications was mixed for all variables, except TCD and absolute reticulocyte count. More reliable predictors are urgently needed to guide therapeutic decisions in children with SCA.
Topics: Anemia, Sickle Cell; Biomarkers; Child; Fetal Hemoglobin; Humans; Prognosis; Reticulocyte Count; Severity of Illness Index; alpha-Globins; beta-Globins
PubMed: 28185829
DOI: 10.1016/j.bcmd.2017.01.014 -
The Cochrane Database of Systematic... Nov 2016Thalassemia is an inherited autosomal recessive blood disorder, caused by mutations in globin genes or their regulatory regions. This results in a reduced rate of... (Review)
Review
BACKGROUND
Thalassemia is an inherited autosomal recessive blood disorder, caused by mutations in globin genes or their regulatory regions. This results in a reduced rate of synthesis of one of the globin chains that make up haemoglobin. In ß-thalassaemia major there is an underproduction of ß-globin chains combined with excess of free α-globin chains. The excess free α-globin chains precipitate in red blood cells, leading to their destruction (haemolysis) and ineffective erythropoiesis. The conventional approach to treatment is based on the correction of haemoglobin status through regular blood transfusions and iron chelation therapy for iron overload. Although conventional treatment has the capacity to improve the quality of life of people with ß-thalassaemia major, allogeneic hematopoietic stem cell transplantation is the only currently available procedure which has the curative potential. This is an update of a previously published Cochrane Review.
OBJECTIVES
To evaluate the effectiveness and safety of different types of allogeneic hematopoietic stem cell transplantation, in people with severe transfusion-dependant ß-thalassaemia major, ß-thalassaemia intermedia or ß0/+- thalassaemia variants requiring chronic blood transfusion.
SEARCH METHODS
We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register comprising references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings.Date of the most recent search: 18 August 2016.
SELECTION CRITERIA
Randomised controlled trials and quasi-randomised controlled trials comparing allogeneic hematopoietic stem cell transplantation with each other or with standard therapy (regular transfusion and chelation regimen).
DATA COLLECTION AND ANALYSIS
Two review authors independently screened studies and had planned to extract data and assess risk of bias using standard Cochrane methodologies but no studies were identified for inclusion.
MAIN RESULTS
No relevant studies were retrieved after a comprehensive search of the literature.
AUTHORS' CONCLUSIONS
We were unable to identify any randomised controlled trials or quasi-randomised controlled trials on the effectiveness and safety of different types of allogeneic stem cell transplantation in people with severe transfusion-dependant ß-thalassaemia major or ß0/+- thalassaemia variants requiring chronic blood transfusion. The absence of high-level evidence for the effectiveness of these interventions emphasises the need for well-designed, adequately-powered, randomised controlled clinical trials.
Topics: Hematopoietic Stem Cell Transplantation; Humans; beta-Thalassemia
PubMed: 27900772
DOI: 10.1002/14651858.CD008708.pub4 -
Prenatal Diagnosis Dec 2016Alpha thalassemia major (ATM) is often fatal in utero due to severe hydrops fetalis. Although in utero transfusions (IUTs) are increasingly used to allow fetal survival... (Review)
Review
OBJECTIVE
Alpha thalassemia major (ATM) is often fatal in utero due to severe hydrops fetalis. Although in utero transfusions (IUTs) are increasingly used to allow fetal survival in ATM, prenatal and postnatal outcomes are not well described.
METHODS
We retrospectively reviewed cases of ATM at our institution treated with consecutive IUT. Clinical records were reviewed for transfusion history, neurodevelopmental outcomes, anatomic abnormalities, survival to hematopoietic cell transplantation, and transfusion independence. A systematic review was performed, and additional reported cases are discussed.
RESULTS
Three patients who underwent IUT for ATM were identified, and review of the literature revealed 17 reported cases. Of patients who received IUT, reported neurodevelopmental deficits occurred in 29% (4/14) and anatomic abnormalities in 55% (11/20). Four patients eventually underwent successful hematopoietic cell transplantation. Transfusion volumes were less than suggested guidelines for other causes of fetal anemia in 91.7% of the transfusions.
CONCLUSION
This series demonstrates the potential for achieving full fetal development with normal neurologic outcomes in those affected by ATM. It provides support for continued patient and provider education about current benefits and risks of active prenatal therapy for fetuses with ATM, as well as continued research to optimize therapeutic strategies such as in utero transplantation. © 2016 John Wiley & Sons, Ltd.
Topics: Blood Transfusion, Intrauterine; Female; Fetal Development; Fetal Diseases; Follow-Up Studies; Gestational Age; Hematopoietic Stem Cell Transplantation; Humans; Hydrops Fetalis; Male; Neurodevelopmental Disorders; Pregnancy; Pregnancy Outcome; Treatment Outcome; alpha-Thalassemia
PubMed: 27862048
DOI: 10.1002/pd.4966 -
Cardiology in the Young May 2017A number of case reports show various outcomes of premature closure of the ductus arteriosus in utero, including persistent pulmonary hypertension of the newborn and... (Review)
Review
BACKGROUND
A number of case reports show various outcomes of premature closure of the ductus arteriosus in utero, including persistent pulmonary hypertension of the newborn and fetal or neonatal death; however, no study clarifies the clinical observations that are related to their prognoses. We aimed to clarify the prognostic factors of intrauterine ductal closure by a systematic literature review. Data sources We searched PubMed database (1975-2014) to identify case reports and studies on intrauterine closure of the ductus arteriosus, including maternal, fetal, and neonatal clinical information and their prognoses.
RESULTS
We analysed the data of 116 patients from 39 articles. Of these, 12 (10.3%) died after birth or in utero. Fetal or neonatal death was significantly correlated with fetal hydrops (odds ratio=39.6, 95% confidence interval=4.6-47.8) and complete closure of the ductus arteriosus (odds ratio=5.5, 95% confidence interval=1.2-15.1). Persistent pulmonary hypertension was observed in 33 cases (28.4%), and was also correlated with fetal hydrops (odds ratio=4.2, 95% confidence interval=1.3-4.6) and complete closure of the ductus arteriosus (odds ratio=5.5, 95% confidence interval=1.6-6.0). Interestingly, maternal drug administration was not correlated with the risk of death and persistent pulmonary hypertension.
CONCLUSIONS
Fetal hydrops and complete ductal closure are significant risk factors for both death and persistent pulmonary hypertension. Cardiac or neurological prognoses could be favourable if the patients overcome right heart failure during the perinatal period.
Topics: Anti-Inflammatory Agents, Non-Steroidal; Ductus Arteriosus, Patent; Female; Fetal Mortality; Heart; Humans; Hydrops Fetalis; Hypertension, Pulmonary; Infant; Infant Mortality; Infant, Newborn; Pregnancy; Prognosis; Risk Factors; Ultrasonography, Prenatal
PubMed: 27322829
DOI: 10.1017/S1047951116000871 -
The Journal of Maternal-fetal &... Nov 2016To evaluate prenatal predictors of postnatal survival in fetuses with agenesis of ductus venosus (ADV).
OBJECTIVE
To evaluate prenatal predictors of postnatal survival in fetuses with agenesis of ductus venosus (ADV).
METHODS
This retrospective study reviewed our experience and the literature between 1991 and 2015. Prenatal findings were evaluated and perinatal morbidity and mortality was documented.
RESULTS
A total of 259 cases were included in the present analysis from our centers and 49 published studies (15 patients from our retrospective cohort review and 244 from literature review). The intrahepatic and extrahepatic shunts were present in 32.0% (73/226) and 67.7% (153/226), respectively. Cardiomegaly (n = 64/259, 24.7%), hydrops (n = 31/259, 12.0%) and amniotic fluid abnormalities (n = 22/259, 8.5%) were among the most frequent initial ultrasound findings. One hundred and forty-seven fetuses (56.8%) had ADV without structural anomalies while 112 (43.2%) had associated anomalies (cardiac anomalies (n = 66), extra-cardiac anomalies (n = 19) and both cardiac and extra-cardiac anomalies (n = 27)). The mean gestational age (GA) at ultrasound diagnosis was 22.9 ± 6.9 weeks while the mean GA at delivery was 34 ± 7.5 weeks. The overall neonatal survival was 57.1% (n = 148/259). The following factors were associated with survival: advanced maternal age, earlier GA at diagnosis, prematurity, increased nuchal translucency, pericardial effusion, associated cardiac defects (especially AVSD), chromosomal abnormalities, hydrops, hygroma and limb anomalies.
CONCLUSION
Fetal hydrops, the presence of associated congenital anomalies and premature delivery are associated with poor prognosis in fetuses with ADV.
Topics: Female; Humans; Infant, Newborn; Pregnancy; Abnormalities, Multiple; Heart Defects, Congenital; Hydrops Fetalis; Premature Birth; Prognosis; Retrospective Studies; Risk Factors; Ultrasonography, Doppler; Ultrasonography, Prenatal; Umbilical Veins; Vascular Malformations
PubMed: 26809266
DOI: 10.3109/14767058.2016.1144743 -
Prenatal Diagnosis Nov 2015To describe the epidemiology and outcomes of sacrococcygeal teratoma (SCT) and identify the factors affecting prognosis in a population-based cohort. (Review)
Review
OBJECTIVES
To describe the epidemiology and outcomes of sacrococcygeal teratoma (SCT) and identify the factors affecting prognosis in a population-based cohort.
METHODS
Analyses of fetal SCTs from a population-based congenital anomaly register between 1995 and 2012, linked to regional datasets. A systematic literature review was performed for published studies on perinatal SCT (1995 to 2012).
RESULTS
Thirty-six confirmed SCT cases were identified, giving a total prevalence of 0.30 per 10 000 births (95%CI 0.20-0.39). Twenty-three cases (63.9%) were diagnosed prenatally. There were six false positive prenatal diagnoses, and the positive predictive value of ultrasound for SCT was 79.3%. Secondary complications in prenatally diagnosed cases were polyhydramnios (27.2%), fetal hydrops (9.1%) and rapidly growing tumour (54.0%). The perinatal (PNMR) and infant mortality rates were 333.3 per 1000 births and 285.7 per 1000 live births, respectively. All stillbirths and infant deaths occurred in cases diagnosed prenatally. Factors associated with higher PNMR in registerable births were solid, vascular tumour composition (1000), polyhydramnios (667), premature delivery (667) and rapidly growing tumour (454). In the systematic review, prenatal hydrops fetalis and prematurity were the most morbid association in SCT.
CONCLUSION
Prenatal ultrasound was relatively sensitive and specific in diagnosing SCT with good survival rates in live-born cases.
Topics: Adult; Cohort Studies; England; Female; Humans; Hydrops Fetalis; Infant, Newborn; Infant, Premature; Perinatal Mortality; Polyhydramnios; Predictive Value of Tests; Pregnancy; Prevalence; Retrospective Studies; Sacrococcygeal Region; Sensitivity and Specificity; Stillbirth; Teratoma; Ultrasonography, Prenatal
PubMed: 26114890
DOI: 10.1002/pd.4641 -
American Journal of Obstetrics and... Feb 2015Nonimmune hydrops is the presence of ≥2 abnormal fetal fluid collections in the absence of red cell alloimmunization. The most common etiologies include... (Review)
Review
OBJECTIVE
Nonimmune hydrops is the presence of ≥2 abnormal fetal fluid collections in the absence of red cell alloimmunization. The most common etiologies include cardiovascular, chromosomal, and hematologic abnormalities, followed by structural fetal anomalies, complications of monochorionic twinning, infection, and placental abnormalities. We sought to provide evidence-based guidelines for the evaluation and management of nonimmune hydrops fetalis.
METHODS
A systematic literature review was performed using MEDLINE, PubMed, EMBASE, and Cochrane Library. The search was restricted to English-language articles published from 1966 through June 2014. Priority was given to articles reporting original research, although review articles and commentaries also were consulted. Abstracts of research presented at symposia and scientific conferences were not considered adequate for inclusion in this document. Evidence reports and guidelines published by organizations or institutions such as the National Institutes of Health, Agency for Health Research and Quality, American Congress of Obstetricians and Gynecologists, and Society for Maternal-Fetal Medicine were also reviewed, and additional studies were located by reviewing bibliographies of identified articles. Grading of Recommendations Assessment, Development, and Evaluation methodology was employed for defining strength of recommendations and rating quality of evidence. Consistent with US Preventive Task Force guidelines, references were evaluated for quality based on the highest level of evidence.
RESULTS AND RECOMMENDATIONS
Evaluation of hydrops begins with an antibody screen (indirect Coombs test) to determine if it is nonimmune, detailed sonography of the fetus(es) and placenta, including echocardiography and assessment for fetal arrhythmia, and middle cerebral artery Doppler evaluation for anemia, as well as fetal karyotype and/or chromosomal microarray analysis, regardless of whether a structural fetal anomaly is identified. Recommended treatment depends on the underlying etiology and gestational age; preterm delivery is recommended only for obstetric indications including development of mirror syndrome. Candidates for corticosteroids and antepartum surveillance include those with an idiopathic etiology, an etiology amenable to prenatal or postnatal treatment, and those in whom intervention is planned if fetal deterioration occurs. Such pregnancies should be delivered at a facility with the capability to stabilize and treat critically ill newborns. The prognosis depends on etiology, response to therapy if treatable, and the gestational age at detection and delivery. Aneuploidy confers a poor prognosis, and even in the absence of aneuploidy, neonatal survival is often <50%. Mirror syndrome is a form of severe preeclampsia that may develop in association with fetal hydrops and in most cases necessitates delivery.
Topics: Anemia; Arrhythmias, Cardiac; Blood Transfusion, Intrauterine; Coombs Test; Delivery, Obstetric; Drainage; Echocardiography; Female; Fetal Diseases; Humans; Hydrops Fetalis; Hydrothorax; Pregnancy; Ultrasonography, Doppler; Ultrasonography, Prenatal
PubMed: 25557883
DOI: 10.1016/j.ajog.2014.12.018 -
Archives of Gynecology and Obstetrics May 2015Idiopathic antenatal calcification is a rare, generally lethal, condition with unclear etiology. (Review)
Review
INTRODUCTION
Idiopathic antenatal calcification is a rare, generally lethal, condition with unclear etiology.
MATERIALS AND METHODS
Around 200 cases, most of them undergoing postnatal diagnosis, are reported in literature. The majority of the affected infants die before the age of 6 months, and very few have survived for more than 1 year. Five cases of spontaneous resolution of the disease are described.
DISCUSSION
An autosomal recessive pattern of inheritance has been suggested for this condition, with some gene mutations which have been recently discovered. Therapy with bisphosphonates has been suggested, with conflicting evidence regarding the utility in the regression of the disease.
CONCLUSION
The main purpose of the present report is to provide the available knowledge on this subject through a systematic review of the literature. In addition, we describe two cases of antenatal idiopathic arterial calcification in which antenatal diagnosis was achieved.
Topics: Adult; Arteries; Echocardiography; Female; Fetal Diseases; Humans; Hydrops Fetalis; Infant; Male; Polyhydramnios; Pregnancy; Ultrasonography, Prenatal; Vascular Calcification
PubMed: 25524533
DOI: 10.1007/s00404-014-3567-z