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Hydrops fetalis

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https://www.readbyqxmd.com/read/28416051/-mirror-syndrome-is-a-rare-complication-in-pregnancy-characterized-by-oedema-and-hydrops-fetalis
#1
Signe Eiland, Eleonora Cvetanovska, Anne Høyrup Bjerre, Henrik Nyholm, Karin Sundberg, Lone Nikoline Nørgaard
We describe a case of mirror syndrome. A 41-year-old woman, para 4, was referred to hospital at 32 weeks of gestational age with excessive oedema. She developed oliguria, mild hypertension and proteinuria. Fetal ultrasound confirmed severe hydrops fetalis. Intrauterine pleural drainage was performed without improvement of the condition. Since maternal symptoms worsened, a caesarean section was performed at 34 weeks with delivery of a live hydropic girl who died after 17 hours. Maternal symptoms decreased four days after delivery with full recovery two weeks post-partum...
April 10, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28398685/parvovirus-b19-infection-during-pregnancy-and-risks-to-the-fetus
#2
REVIEW
Asher Ornoy, Zivanit Ergaz
Parvovirus B19 infects 1 to 5% of pregnant women, generally with normal pregnancy outcomes. During epidemics, the rate of infection is higher. Major congenital anomalies among offspring of infected mothers are rare, as the virus does not appear to be a significant teratogen. However, parvovirus B19 infection may cause significant fetal damage, and in rare cases, brain anomalies and neurodevelopmental insults, especially if infection occurs in the first 20 weeks of pregnancy. Parvovirus B19 is also an important cause of fetal loss, especially in the second half of pregnancy when spontaneous fetal loss from other causes is relatively rare...
March 15, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28383542/quantitative-clinical-characteristics-of-53-patients-with-mps-vii-a-cross-sectional-analysis
#3
Matthias Zielonka, Sven F Garbade, Stefan Kölker, Georg F Hoffmann, Markus Ries
PURPOSE: The main purpose of the study was to provide quantitative data regarding survival and diagnostic delay. Mucopolysaccharidosis (MPS) type VII (OMIM 253220) is a progressive neurometabolic disorder caused by deficiency of the lysosomal enzyme β-glucuronidase (GUS). Hard clinical end points have not been quantitatedMethods:We quantitatively analyzed published cases with MPS VII (N = 53/88 with sufficient data). Main outcome measures were onset of disease and survival. The role of biomarkers such as GUS residual enzyme activity and levels of storage material assessed as urinary excretion of glucosaminoglycans (GAG) as potential predictors of clinical outcomes were investigated...
April 6, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28381876/genetic-origin-of-%C3%AE-0-thalassemia-sea-deletion-in-southeast-asian-populations-and-application-to-accurate-prenatal-diagnosis-of-hb-bart-s-hydrops-fetalis-syndrome
#4
Wittaya Jomoui, Goonnapa Fucharoen, Kanokwan Sanchaisuriya, Patnaree Charoenwijitkul, Jitpanu Maneesarn, Xiangmin Xu, Supan Fucharoen
α(0)-thalassemia of SEA deletion (-(SEA)) is common among Southeast Asian and Chinese. Using haplotype and phylogenetic analyses, we examined the origin of this defect in Southeast Asian populations. Study was done on both normal and α(0)-thalassemia alleles in 3 ethnic groups including 96 Thai, 52 Laotian and 21 Cambodian. Five SNPs encompassing the (-(SEA)) including (rs3760053 T>G), (rs1211375 A>C), (rs3918352 A>G), (rs1203974 A>G) and (rs11248914 C>T) were examined using high-resolution melting assays...
April 6, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28381365/alpha-thalassemia-major-and-restrictive-foramen-ovale-in-a-preterm-neonate-without-severe-hydrops-fetalis
#5
Shih-Yun Hsu, Shih-Hsiang Cheng, Ren-Huei Fu
No abstract text is available yet for this article.
March 18, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28367357/resuscitation-with-intact-placental-circulation-in-a-preterm-infant-with-hydrops-fetalis
#6
Simone Pratesi, Iuri Corsini, Caterina Coviello, Silvia Perugi, Carlo Dani
A preterm infant with prenatal diagnosis of hydrops fetalis was spontaneously delivered at 30 weeks of gestational age in a tertiary level hospital. Prenatal echography pointed out severe bilateral pleural effusions and diffused subcutaneous edema. A neonatologist team, alerted at the expulsion stage of labor, assisted the neonate immediately after birth and bilateral hydrothorax was drained with intact placental circulation to avoid a nonrespiratory period and its possible detrimental hemodynamic effects. The newborn was well stabilized in the delivery room before cutting the umbilical cord and starting mechanical ventilation...
January 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28361594/an-unusual-hydrops-fetalis-associated-with-compound-heterozygosity-for-kr%C3%A3-ppel-like-factor-1-mutations
#7
Helena H L Lee, Annisa S L Mak, K O Kou, C F Poon, W S Wong, K H Chiu, Patrick K C Au, Kelvin Y K Chan, Anita S Y Kan, Mary H Y Tang, K Y Leung
Hydrops fetalis is commonly due to Hb Bart's (γ4) disease in South East Asia. Here, we report an unusual case of hydrops fetalis due to congenital dyserythropoietic anemia (CDA) associated with compound heterozygosity for Krüppel-like factor 1 (KLF1) gene mutations. Fetal cardiomegaly was first detected on routine mid-trimester scan in a pregnant woman with normal mean corpuscular volume (MCV) and Rhesus positive status. The fetus subsequently developed hydrops fetalis, and cordocentesis showed severe fetal anemia with a hemoglobin (Hb) level of 3...
November 2016: Hemoglobin
https://www.readbyqxmd.com/read/28336317/lethal-multiple-pterygium-syndrome-a-severe-phenotype-associated-with-a-novel-mutation-in-the-nebulin-gene
#8
Ebtesam Abdalla, Gianina Ravenscroft, Louay Zayed, Sarah J Beecroft, Nigel G Laing
Fetal akinesia deformation sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of fetal akinesia, intrauterine growth restriction, developmental abnormalities such as cystic hygroma, hydrops fetalis, pulmonary hypoplasia, occasional arthrogryposis, and pterygia. The pathogenetic mechanisms of fetal akinesia deformation sequence include neuropathy, muscular disorders, neuromuscular junction disorders, maternal myasthenia gravis, restrictive dermopathy and others...
January 18, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28318049/kaposiform-hemangioendothelioma-presenting-as-hydrops-fetalis
#9
Elena Sobrino-Fernández, Minia Campos-Domínguez, Rebeca Gregorio-Hernández, Jorge Huerta-Aragonés, Cristina Beléndez-Bieler, Ángel Lancharro-Zapata, María Luisa Franco-Fernández, Belén Bernardo-Atienza, Manuel Sánchez-Luna
We describe the case of a 33-week preterm infant who developed nonimmune hydrops fetalis secondary to a kaposiform hemangioendothelioma (KHE). The tumor was successfully treated with vincristine, prednisone, ticlopidine, and aspirin. KHE can be an unusual cause of hydrops fetalis; in such cases, diagnosis can be challenging since generalized edema can obscure KHE.
March 20, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28277912/fetal-hemoglobin-bart-s-hydrops-fetalis-pathophysiology-prenatal-diagnosis-and-possibility-of-intrauterine-treatment
#10
Phudit Jatavan, Nipon Chattipakorn, Theera Tongsong
This review aimed to comprehensively summarize current available reports regarding the ultrasound markers and biomarkers in predicting fetal Hb Bart's disease and evaluate the potential role of cardiac function assessment in a clinical practice. This review involves various methods in prenatal predicting fetal Hb Bart's disease or alpha-thalassemia major and attempts to provide valuable insights regarding the underlying mechanisms responsible for heart failure in Hb Bart's fetuses. Moreover, this information may be used to predict the cardiac function before the development of hydrops fetalis...
March 1, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28265962/treatment-of-fetal-supraventricular-tachycardia
#11
REVIEW
Bridget B Zoeller
Fetal arrhythmia is a common reason for referral to fetal cardiology. Fetal supraventricular tachycardia can be subdivided into several groups with the most common being re-entrant supraventricular tachycardia and atrial flutter. Fetal tachycardia can lead to hydrops fetalis, which increases the risk of fetal demise, perinatal morbidities, and premature delivery. The diagnosis of fetal tachycardia can be a challenge as a traditional electrocardiogram cannot be completed on a fetus, and other methods must be used by fetal echocardiogram...
January 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28258976/congenital-pulmonary-lymphangiectasia
#12
Shi-Min Yuan
Congenital pulmonary lymphangiectasia (CPL) is a rare but fatal disease, usually having an onset from the first few hours to days after birth. Inconsistent nomenclatures were used for CPL in the past decades. Patients often present with intractable respiratory failure, hydrops fetalis and even sudden death. The etiologies of CPL remain unclear. Previous hypotheses suggested that CPL might be caused by conditions preventing normal regression of the lymphatics after the 18th-20th week of gestation. Up-to-date biological studies on lymphatic development, lymphatic valve formation and occurrence of hydrops fetalis revealed possible causative relations with mutations of genes of the vascular endothelial growth factor receptor (VEGFR), RAS/MAPK, PI3K/AKT and NF-κB signaling pathways...
March 4, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28212097/design-and-testing-of-a-transcutaneous-rf-recharging-system-for-a-fetal-micropacemaker
#13
Adriana N Vest, Li Zhou, Xuechen Huang, Viktoria Norekyan, Yaniv Bar-Cohen, Ramen H Chmait, Gerald Eli Loeb
We have developed a rechargeable fetal micropacemaker in order to treat severe fetal bradycardia with comorbid hydrops fetalis. The necessarily small form factor of the device, small patient population, and fetal anatomy put unique constraints on the design of the recharging system. To overcome these constraints, a custom high power field generator was built and the recharging process was controlled by utilizing pacing rate as a measure of battery state, a feature of the relaxation oscillator used to generate stimuli...
April 2017: IEEE Transactions on Biomedical Circuits and Systems
https://www.readbyqxmd.com/read/28180938/compound-heterozygous-gata5-mutations-in-a-girl-with-hydrops-fetalis-congenital-heart-defects-and-genital-anomalies
#14
Maja Hempel, Teresa Casar Tena, Thilo Diehl, Martina S Burczyk, Tim M Strom, Christian Kubisch, Melanie Philipp, Davor Lessel
GATA5 belongs to the GATA family of transcription factors characterized by highly evolutionarily conserved zinc-finger DNA-binding domains. Mouse models have implicated a role of GATA5 during mammalian embryogenesis, including proper heart development and gender-specific regulation of female genitourinary tract formation. Previous studies have found an association of heterozygous missense alterations in GATA5 with a broad variety of heart diseases; however, the clinical relevance of the identified susceptibility variants has remained unclear...
February 8, 2017: Human Genetics
https://www.readbyqxmd.com/read/28180200/acoustic-radiation-force-impulse-elastosonography-of-placenta-in-maternal-red-blood-cell-alloimmunization-a-preliminary-and-descriptive-study
#15
Orkun Cetin, Erbil Karaman, Harun Arslan, Ibrahim Akbudak, Recep Yıldızhan, Ali Kolusarı
AIMS: Maternal red blood cell alloimmunization is an important cause of fetal morbidity and mortality in the perinatal period, despite well-organized prophylaxis programs. The objective of the study was to evaluate placental elasticity by using Acoustic Radiation Force Impulse (ARFI) in Rhesus (Rh) alloimmunized pregnant women with hydropic and nonhydropic fetuses and to compare those with healthy pregnant women. MATERIAL AND METHODS: This case-control and descriptive study comprised twenty-eight healthy pregnant women, 14 Rh alloimmunized pregnant women with nonhydropic fetuses, and 16 Rh alloimmunized pregnant women with hydropic fetuses in the third trimester of pregnancy...
January 31, 2017: Medical Ultrasonography
https://www.readbyqxmd.com/read/28174644/interstitial-deletion-of-chromosome-1-1p21-1p12-in-an-infant-with-congenital-diaphragmatic-hernia-hydrops-fetalis-and-interrupted-aortic-arch
#16
Masitah Ibrahim, Matthew Hunter, Lucy Gugasyan, Yuen Chan, Atul Malhotra, Arvind Sehgal, Kenneth Tan
We report a case of an infant with congenital diaphragmatic hernia (CDH) and hydrops fetalis who died from hypoxic respiratory failure. Autopsy revealed type B interrupted aortic arch (IAA). Microarray revealed a female karyotype with deletion of chromosome 1p21.1p12. There may be an association between 1p microdeletion, CDH, and IAA.
February 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28064267/chemical-pleurodesis-with-oxytetracycline-in-congenital-chylothorax
#17
Alpana Utture, Vinayak Kodur, Jayashree Mondkar
BACKGROUND: Congenital chylothorax is an accumulation of chyle in the pleural space that may present in neonatal period with respiratory distress. CASE CHARACTERISTICS: A 34-week preterm who presented with massive congenital chylothorax complicated with hydrops fetalis. OUTCOME: The neonate was treated successfully by pleurodesis with Oxytetracycline. MESSAGE: Pleurodesis with oxytetracycline seems to be effective in treatment of congenital chylothorax...
December 15, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/28057638/an-international-registry-of-survivors-with-hb-bart-s-hydrops-fetalis-syndrome
#18
REVIEW
Duantida Songdej, Christian Babbs, Douglas R Higgs
Hemoglobin (Hb) Bart's hydrops fetalis syndrome (BHFS) resulting from α(0)-thalassemia is considered a universally fatal disorder. However, over the last 3 decades, improvements in intrauterine interventions and perinatal intensive care have resulted in increasing numbers of BHFS survivors. We have initiated an international registry containing information on 69 patients, of which 31 are previously unpublished. In this perspective, we analyze the available clinical information to document the natural history of BHFS...
March 9, 2017: Blood
https://www.readbyqxmd.com/read/28043830/fetal-primary-cardiac-tumors-during-perinatal-period
#19
REVIEW
Shi-Min Yuan
Fetal primary cardiac tumors are rare, but they may cause complications, which are sometimes life threatening, including arrhythmias, hydrops fetalis, ventricular outflow/inflow obstruction, cardiac failure, and even sudden death. Among fetal primary cardiac tumors, rhabdomyomas are most common, followed by teratomas, fibromas, hemangiomas, and myxomas. Everolimus, a mammalian target of rapamycin inhibitor, has been reported to be an effective drug to cause tumor remission in three neonates with multiple cardiac rhabdomyomas...
October 28, 2016: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28040135/pallister-killian-syndrome-cytogenetics-and-molecular-investigations-of-mosaic-tetrasomy-12p-in-prenatal-chorionic-villus-and-in-amniocytes-strategy-of-prenatal-diagnosis
#20
Francesco Libotte, Domenico Bizzoco, Ivan Gabrielli, Alvaro Mesoraca, Pietro Cignini, Salvatore Giovanni Vitale, Ilaria Marilli, Ferdinando Antonio Gulino, Agnese Maria Chiara Rapisarda, Claudio Giorlandino
OBJECTIVE: Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment, hearing loss, epilepsy, hypotonia, craniofacial dysmorphism, pigmentary skin anomalies, epilepsy, and a variety of congenital malformations. Prenatally, PKS can be suspected in the presence of ultrasound anomalies: diaphragmatic hernia, rhizomelic micromelia, hydrops fetalis, fetal overweight, ventriculomegaly in the central nervous system, congenital heart defects, or absent visualization of the stomach...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
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