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Utility of fetal whole exome sequencing in the etiological evaluation and outcome of nonimmune hydrops fetalis

Prenatal Diagnosis, 2021
Nonimmune hydrops fetalis (NIHF) has varied etiology. We assessed the etiological spectrum and evaluated the utility of fetal whole exome sequencing (fWES) for the diagnosis of NIHF.
Alec Reginald Errol Correa   +7 more
semanticscholar   +1 more source

The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing

Prenatal Diagnosis, 2021
To explain the importance of identifying an etiology for the pathological finding of nonimmune hydrops fetalis (NIHF) and to explore the impact of exome sequencing in recurrent NIHF.
T. Wagner   +9 more
semanticscholar   +1 more source

Nonimmune hydrops fetalis: Genetic analysis and clinical outcome

Prenatal Diagnosis, 2020
To investigate the genetic causes and clinical outcomes of nonimmune hydrops fetalis (NIHF).
Q. Deng   +8 more
semanticscholar   +1 more source

Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review

Journal of Inherited Metabolic Disease, 2020
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.
Mona M Makhamreh   +4 more
semanticscholar   +1 more source

Hydrops fetalis associated with anti‐CD36 antibodies in fetal and neonatal alloimmune thrombocytopenia: Possible underlying mechanism

Transfusion Medicine, 2020
In the present study, we asked whether anti‐CD36 antibodies impair the maturation of erythropoietic stem cells to mature red blood cells (RBCs), leading to anaemia and hydrops fetalis (HF).
Yongbin Wu   +8 more
semanticscholar   +1 more source

Noninvasive Prenatal Detection of Hemoglobin Bart hydrops fetalis via maternal plasma dispensed with parental haplotyping using the Semiconductor Sequencing Platform (SSP).

American Journal of Obstetrics and Gynecology, 2020
BACKGROUND Thalassemia is one of most common monogenetic diseases in the south of China and Southeast Asia. Hemoglobin Bart's hydrops fetalis syndrome was caused by a homozygous SEA deletion (--/--) in the HBA gene.
Jiexia Yang   +17 more
semanticscholar   +1 more source

Hydrops fetalis in a cohort of 3,137 stillbirths and second trimester miscarriages

American Journal of Medical Genetics. Part A, 2019
Hydrops fetalis was diagnosed in 277 (9%) of 3,137 fetuses referred to the Wisconsin Stillbirth Service Program (WiSSP) for etiologic evaluation of stillbirth or second trimester miscarriage.
E. McPherson
semanticscholar   +1 more source

Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.

Clinica chimica acta; international journal of clinical chemistry, 2018
PURPOSES Hydrops fetalis is a life-threatening fetal condition, and 85% of all cases are classified as nonimmune hydrops fetalis (NIHF). Up to 15% of NIHF cases may be due to inborn errors of metabolism (IEM), but a large proportion of cases linked to ...
Bénédicte Sudrié-Arnaud   +21 more
semanticscholar   +1 more source

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