Results 101 to 110 of about 12,197 (223)

Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij   +11 more
wiley   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell   +6 more
wiley   +1 more source

SÍNDROME HEMOFAGOCÍTICO SECUNDARIO A INFECCIÓN POR ERYTHROVIRUS B19 Y EMBARAZO

open access: yesRevista Chilena de Obstetricia y Ginecología, 2008
Antecedentes: El síndrome hemofagocítico es un desorden caracterizado por una proliferación benigna de los histiocitos y la fagocitosis de las células hematopoiéticas normales.
Eduardo Guzmán González   +3 more
doaj  

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum   +4 more
wiley   +1 more source

Wandering spleen presenting in the form of right sided pelvic mass and pain in a patient with AD-PCKD: a case report and review of the literature

open access: yesJournal of Medical Case Reports
Background Wandering spleen is a rare clinical entity in which the spleen is hypermobile and migrate from its normal left hypochondriac position to any other abdominal or pelvic position as a result of absent or abnormal laxity of the suspensory ...
Yitagesu aberra shibiru   +2 more
doaj   +1 more source

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu   +7 more
wiley   +1 more source

Tratamiento de la anemia con eritropoyetina humana recombinante cubana durante el embarazo en el trasplante renal

open access: yesRevista Cubana de Medicina, 2001
Se presentó el caso de una paciente de 24 años de edad y raza blanca con antecedentes de nefritis túbulo-intersticial crónica, vía por la cual llegó a la insuficiencia renal crónica grado IV.
Gerardo Borroto Díaz   +3 more
doaj  

In Utero HSC Transplantation for Sickle Cell Disease: A Potential Therapeutic Approach That Overcomes Complications of Current Therapies

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde   +4 more
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo   +4 more
wiley   +1 more source

Prenatal Diagnosis and Management of Kaposiform Hemangioendothelioma With Kasabach–Merritt Phenomenon: Imaging Features and First Experience With Maternal Sirolimus Therapy

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the prenatal diagnosis, evolution, and perinatal management of kaposiform hemangioendothelioma (KHE) complicated by the Kasabach–Merritt phenomenon (KMP), and to report the first documented use of maternal sirolimus therapy (MST) in this setting. Methods We retrospectively reviewed four fetuses with a prenatal soft‐tissue
Antoine Fraissenon   +11 more
wiley   +1 more source

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