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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 -
Clinical Infectious Diseases : An... Feb 2018Artemisinin derivatives are widely used antimalarial drugs. There is some evidence from in vitro, animal and clinical studies that hemoglobinopathies may alter their...
Artemisinin derivatives are widely used antimalarial drugs. There is some evidence from in vitro, animal and clinical studies that hemoglobinopathies may alter their disposition and antimalarial activity. This review assesses relevant data in α-thalassemia, sickle cell disease (SCD), β-thalassemia and hemoglobin E. There is no convincing evidence that the disposition of artemisinin drugs is affected by hemoglobinopathies. Although in vitro studies indicate that Plasmodium falciparum cultured in thalassemic erythrocytes is relatively resistant to the artemisinin derivatives, mean 50% inhibitory concentrations (IC50s) are much lower than in vivo plasma concentrations after recommended treatment doses. Since IC50s are not increased in P. falciparum cultures using SCD erythrocytes, delayed post-treatment parasite clearance in SCD may reflect hyposplenism. As there have been no clinical studies suggesting that hemoglobinopathies significantly attenuate the efficacy of artemisinin combination therapy (ACT) in uncomplicated malaria, recommended artemisinin doses as part of ACT remain appropriate in this patient group.
Topics: Antimalarials; Artemisinins; Hemoglobinopathies; Humans; Malaria, Falciparum
PubMed: 29370347
DOI: 10.1093/cid/cix785 -
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 -
Prenatal Diagnosis Oct 2007To evaluate the effect of prenatal therapeutic interventions on perinatal outcome in pregnancies complicated by isolated fetal hydrothorax with hydrops. (Review)
Review
OBJECTIVE
To evaluate the effect of prenatal therapeutic interventions on perinatal outcome in pregnancies complicated by isolated fetal hydrothorax with hydrops.
METHODS
A systematic review of the literature from January 1982 to January 2006 of perinatal outcome in pregnancies with isolated fetal hydrothorax with hydrops with any form of prenatal treatment was conducted.
RESULTS
Forty-four articles met our selection criteria, reporting a total of 172 fetuses treated prenatally. Reported treatment options were single (n = 13) or serial thoracocentesis (n = 18), thoraco-amniotic shunt placement (n = 100) or a combination of thoracocentesis and shunting (n = 36). Four case-reports described pleurodesis with OK-432, (n = 3) and intrapleural injection of autologous blood (n = 2). Overall survival rate was 63%, ranging from 54% for single thoracocentesis to 80% in the 5 cases treated with pleurodesis, without statistically significant differences between the treatment modalities. Shunt-placement with or without prior thoracocentesis was most often described, with survival rates of 67 and 61% respectively.
DISCUSSION
The available literature consists exclusively of case reports and case series. This systematic review suggests that with prenatal intervention, perinatal survival rates around 63% are possible. There is a need for prospective, adequately controlled studies with long-term follow-up to determine the best treatment and more reliable outcome data in pregnancies complicated by fetal hydrothorax with hydrops.
Topics: Drainage; Female; Humans; Hydrops Fetalis; Hydrothorax; Paracentesis; Pregnancy; Prenatal Care; Prenatal Diagnosis; Thoracic Surgery; Treatment Outcome
PubMed: 17605152
DOI: 10.1002/pd.1808 -
Genetics in Medicine : Official Journal... Jan 2021Hydrops fetalis (HF), accumulation of fluid in two or more fetal compartments, is life-threatening to the fetus. Genetic etiologies include many chromosomal and...
Hydrops fetalis (HF), accumulation of fluid in two or more fetal compartments, is life-threatening to the fetus. Genetic etiologies include many chromosomal and monogenic disorders. Despite this, the clinical workup typically evaluates limited genetic targets. To support broader molecular testing of pregnancies with HF, we cataloged the spectrum of monogenic disorders associated with nonimmune hydrops fetalis (NIHF). We performed a systematic literature review under PROSPERO tag CRD42018099495 of cases reporting NIHF meeting strict phenotypic criteria and well-defined genetic diagnosis. We ranked the evidence per gene based on number of reported cases, phenotype, and molecular/biochemical diagnosis. We identified 131 genes with strong evidence for an association with NIHF and 46 genes with emerging evidence spanning the spectrum of multisystem syndromes, cardiac disorders, hematologic disorders, and metabolic disorders. Several genes previously implicated with NIHF did not have any reported cases in the literature with both fetal hydrops and molecular diagnosis. Many genes with strong evidence for association with NIHF would not be detected using current sequencing panels. Nonimmune HF has many possible monogenic etiologies, several with treatment implications, but current diagnostic approaches are not exhaustive. Studies are needed to assess if broad sequencing approaches like exome sequencing are useful in clinical management of HF.
Topics: Female; Fetus; Humans; Hydrops Fetalis; Pregnancy; Prenatal Care; Exome Sequencing
PubMed: 33082562
DOI: 10.1038/s41436-020-00967-0 -
Journal of Clinical Virology : the... May 2019Human parvovirus B19 (B19) is widespread infection in humans, yet the impact on adverse pregnancy outcomes is controversial. (Meta-Analysis)
Meta-Analysis
BACKGROUND
Human parvovirus B19 (B19) is widespread infection in humans, yet the impact on adverse pregnancy outcomes is controversial.
OBJECTIVE
to evaluate the impact of B19 infection during pregnancy on adverse pregnancy outcome, and investigated the incidence of fetal loss and fetal hydrops after maternal B19 infection during pregnancy.
STUDY DESIGN
A systematic literature search was performed using Embase, Medline, PubMed, Web of science, and the Cochrane Library database for relevant publications up to 10 August 2018. Cohort studies and case-control studies were included in analyses.
RESULTS
In total, 36 eligible studies were included. Of these, 18 studies reported the risk of maternal B19 infection during pregnancy on fetal loss and 20 studies reported the incidence of fetal loss or fetal hydrops after maternal B19 infection. Collectively, the results indicated that maternal B19 infection increased the risk of fetal loss, spontaneous abortion, and stillbirth with ORs of 2.68 (95% CI: 2.02-3.55), 2.42 (95% CI: 1.76-3.33), and 3.53 (95% CI: 1.91-6.54), respectively, when compared with uninfected pregnant women. In addition, the incidence of fetal loss and fetal hydrops in B19 infected pregnant women was 7.6% (95% CI: 5.5-9.5) and 9.3% (95% CI: 5.6-13.0), respectively.
CONCLUSIONS
maternal parvovirus B19 infection during pregnancy increased the risk of fetal loss, spontaneous abortion, and stillbirth. A high incidence of fetal loss and fetal hydrops was observed in pregnant women with parvovirus B19 infection.
Topics: Abortion, Spontaneous; Female; Fetal Death; Humans; Hydrops Fetalis; Parvoviridae Infections; Parvovirus B19, Human; Pregnancy; Pregnancy Complications, Infectious; Pregnancy Outcome; Risk Factors; Stillbirth
PubMed: 30897374
DOI: 10.1016/j.jcv.2019.03.004 -
Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review.Journal of Inherited Metabolic Disease Mar 2020Numerous etiologies may lead to nonimmune hydrops fetalis (NIHF) including congenital disorders of glycosylation (CDG). Recognition of CDG in NIHF is challenging. This...
Numerous etiologies may lead to nonimmune hydrops fetalis (NIHF) including congenital disorders of glycosylation (CDG). Recognition of CDG in NIHF is challenging. This study reviews prenatal and neonatal characteristics of CDG presenting with NIHF. A systematic literature search was performed. Thirteen articles met the inclusion criteria. Twenty-one cases with NIHF associated with a CDG were reported. There were 17 live births, three pregnancy terminations, and one fetal demise. Timing of CDG diagnosis was reported mostly postnatally (90%; 10/11). Postnatal genetic testing was reported in 18 patients; three patients were diagnosed by isoelectric focusing of serum transferrin that showed a type 1 pattern. The genes reported for CDG with NIHF for 15 distinct families include: PMM2 in 47% (7/15), ALG9 in 20% (3/15), ALG8 in 13% (2/15), ALG1 in 7% (1/15), MGAT2 in 7% (1/15), and COG6 7% (1/15). In our review, 81% (17/21) reported facial dysmorphism, 52% (11/21) reported CNS abnormalities, most commonly cerebellar atrophy (64%; 7/11), and 38% (8/21) reported cardiovascular abnormalities, most commonly hypertrophic cardiomyopathy (63%; 5/8). Among live births, 71% (12/17) infants died at a median age of 34 days (range 1-185). Thrombocytopenia was reported in 53% (9/17) patients. Of those who survived past the neonatal period, 80% (4/5) had significant reported developmental delays. CDG should be on the differential diagnosis of NIHF in the presence of cerebellar atrophy, hypertrophic cardiomyopathy, or thrombocytopenia. Our review highlights the poor prognosis in infants with NIHF due to CDG and demonstrates the importance of identifying these disorders prenatally to guide providers in their counseling with families regarding pregnancy management. SYNOPSIS: Poor prognosis in fetuses and infants with nonimmune hydrops fetalis due to congenital disorders of glycosylation highlights the importance of prenatal diagnosis of this disorder.
Topics: Congenital Disorders of Glycosylation; Female; Fetal Death; Glycosylation; Humans; Hydrops Fetalis; Infant, Newborn; Phosphotransferases (Phosphomutases); Pregnancy; Prenatal Diagnosis
PubMed: 31420886
DOI: 10.1002/jimd.12162 -
Hemoglobin Nov 2020Thalassemia is a genetic mutation of the α- or β-globin chains that lead to defective erythropoiesis. This study aimed to collect evidences from all published studies... (Meta-Analysis)
Meta-Analysis
Thalassemia is a genetic mutation of the α- or β-globin chains that lead to defective erythropoiesis. This study aimed to collect evidences from all published studies that investigated the clinical effectiveness of calcium channel blockers (CCBs) in conjunction with chelation therapy for reducing iron overload in patients with thalassemia. A systematic search was conducted in PubMed, Institute for Scientific Information (ISI) Web of Science, Scopus, Cochrane Central Register of Controlled Trials, and Virtual Health Library. Original studies reporting the use of CCBs in patients with thalassemia were included for meta-analysis. A total of five randomized studies including 210 patients were included with a follow-up period of 3-12 months. There was no significant difference between amlodipine and control groups in increasing the heart T2* magnetic resonance imaging (MRI) [mean difference (MD) 95% confidence interval (95% CI) = -1.9 (-4.4 to 0.5), = 0.119] or reducing the liver iron concentration [MD 95% CI = -0.046 (-0.325 to 0.2), = 0.746]. Although there were no serious adverse events reported in the included trials, further studies are recommended to strengthen our findings.
Topics: Amlodipine; Biomarkers; Calcium Channel Blockers; Chelation Therapy; Drug Therapy, Combination; Humans; Iron Chelating Agents; Iron Overload; Magnetic Resonance Imaging; Randomized Controlled Trials as Topic; Treatment Outcome; beta-Thalassemia
PubMed: 33430665
DOI: 10.1080/03630269.2020.1853561 -
Ultrasound in Obstetrics & Gynecology :... Nov 2018To explore the outcome of fetuses affected by congenital parvovirus B19 (PB19) infection, with or without signs of hydrops on ultrasound. (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To explore the outcome of fetuses affected by congenital parvovirus B19 (PB19) infection, with or without signs of hydrops on ultrasound.
METHODS
PubMed, EMBASE and CINAHL databases were searched for studies reporting on prenatal diagnosis and outcome of fetal PB19 infection. The outcomes explored were miscarriage, perinatal death (PND), intrauterine death, neonatal death, spontaneous resolution of hydrops or fetal anemia, need for intrauterine transfusion (IUT), resolution of hydrops or anemia after transfusion, fetal loss following transfusion, abnormal brain scan after birth and abnormal neurodevelopmental outcome. Outcomes were reported according to the presence or absence of signs of hydrops on ultrasound. A subgroup analysis was performed including hydropic and non-hydropic fetuses diagnosed at < 20 weeks and ≥ 20 weeks of gestation. Meta-analyses of proportions and meta-analyses using individual-data random-effects logistic regression were performed to analyze the data.
RESULTS
Thirty-five observational studies were included, involving 611 fetuses affected by PB19 infection. The risks of miscarriage (odds ratio (OR), 11.5; 95% CI, 2.7-49.7) and PND (OR, 4.2; 95% CI, 1.6-11.0) were higher in fetuses with PB19 infection presenting, compared with those not presenting, signs of hydrops on ultrasound. In fetuses affected by hydrops, spontaneous resolution of the infection, defined as disappearance of hydrops without need for IUT, occurred in 5.2% (95% CI, 2.5-8.8%) of cases whereas, in the group of fetuses not affected by hydrops, infection resolved in 49.6% (95% CI, 20.7-78.6%) of cases. IUT was performed in 78.7% (95% CI, 66.4-88.8%) of hydropic and in 29.6% (95% CI, 6.0-61.6%) of non-hydropic fetuses affected by congenital PB19 infection and resolution of the infection after IUT occurred in 55.1% (95% CI, 34.0-75.3%) and in 100% (95% CI, 57.3-100%) of cases, respectively. The risk of fetal loss after IUT was higher in fetuses affected compared with those not affected by hydrops (OR, 9.8; 95% CI, 2.8-34.6). The prevalence of abnormal brain imaging was 9.8% (95% CI, 2.5-21.0%) in fetuses affected and 0.0% (95% CI, 0.0-7.0%) in those not affected by hydrops, whilst the corresponding figures for abnormal neurodevelopmental outcome were 9.5% (95% CI, 2.6-20.2) and 0.0% (95% CI, 0.0-7.5), respectively; however, statistical power to assess these outcomes was inadequate due to the small number of included cases.
CONCLUSIONS
Hydrops is the main determinant of mortality and adverse perinatal outcome in fetuses with PB19 infection. Perinatal outcome in non-hydropic fetuses is generally favorable. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.
Topics: Erythema Infectiosum; Female; Fetal Death; Gestational Age; Humans; Hydrops Fetalis; Parvovirus B19, Human; Pregnancy; Pregnancy Complications, Infectious; Prenatal Diagnosis
PubMed: 29785793
DOI: 10.1002/uog.19092 -
Fetal Diagnosis and Therapy 2010Mirror syndrome, also referred to as Ballantyne's syndrome, is normally defined as the development of maternal edema in association with fetal hydrops. The incidence of... (Review)
Review
INTRODUCTION
Mirror syndrome, also referred to as Ballantyne's syndrome, is normally defined as the development of maternal edema in association with fetal hydrops. The incidence of mirror syndrome is low and few cases have been published. We describe a case report in association with fetal Ebstein anomaly and provide a systematic review on the fetal associated conditions, maternal presentation and perinatal outcome reported for mirror syndrome.
DATA SOURCES
A PubMed database search was done until December 2008 (English, French or German) without any restriction of publication date or journal, using the following key words: Ballantyne syndrome, Mirror syndrome, Triple edema, Pseudotoxemia, Maternal hydrops syndrome, Pregnancy toxemia, Acute second trimester gestosis, and Early onset preeclampsia. Reported cases were considered eligible when fetal associated conditions, maternal symptoms and fetal outcome were clearly described.
RESULTS
Among 151 publications a total of 56 reported cases satisfying all inclusion criteria were identified. Mirror syndrome was associated with rhesus isoimmunization (29%), twin-twin transfusion syndrome (18%), viral infection (16%) and fetal malformations, fetal or placental tumors (37.5%). Gestational age at diagnosis ranged from 22.5 to 27.8 weeks of gestation. Maternal key signs were edema (80-100%), hypertension (57-78%) and proteinuria (20-56%). The overall rate of intrauterine death was 56%. Severe maternal complications including pulmonary edema occurred in 21.4%. Maternal symptoms disappeared 4.8-13.5 days after delivery.
DISCUSSION
Mirror syndrome is associated with a substantial increase in fetal mortality and maternal morbidity.
Topics: Adult; Ebstein Anomaly; Edema; Female; Humans; Hydrops Fetalis; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Rh Isoimmunization; Syndrome
PubMed: 20357423
DOI: 10.1159/000305096