Results 171 to 180 of about 517,738 (337)

Automatic Respiratory and Bulk Patient Motion Corrected 3D Fetal MRI

open access: yesMagnetic Resonance in Medicine, EarlyView.
ABSTRACT PurposeTo develop a framework (ACROBATIC) for correcting motion in 3D radial fetal MRI. MethodsData were simulated (N = 200) and acquired in utero (N = 11, gestational age: 32 ± 2 weeks). Motion due to maternal respiration was estimated by extracting a self‐gating signal and applying focused navigation.
Robin Ferincz   +8 more
wiley   +1 more source

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear   +6 more
wiley   +1 more source

<i>In utero</i> thirdhand smoke exposure modulates platelet function in a sex-dependent manner

open access: gold, 2021
Hamdy Ali   +8 more
openalex   +2 more sources

Hemophilia A: An Ideal Disease for Prenatal Therapy

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Hemophilia A (HA) is the most common inherited coagulation defect. Current state‐of‐the‐art treatment consists of frequent administration of prophylactic infusions of coagulation factor VIII (FVIII) protein or bispecific antibodies that replace the cofactor function of FVIIIa to maintain hemostasis. However, these treatments are far from ideal,
Christopher D. Porada   +2 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

Diagnostic Accuracy of Estimated Fetal Weight Discordance in Predicting Birthweight Discordance in Monochorionic Twins: A Retrospective Cohort Study

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic accuracy of sonographic estimated fetal weight discordance (EFWD) ≥ 20% in predicting birthweight discordance (BWD) ≥ 20% (i.e., selective fetal growth restriction [sFGR]) in monochorionic (MC) twin pregnancies.
Jip A. Spekman   +8 more
wiley   +1 more source

In Utero Diagnosis of Niemann–Pick Type C in the Absence of Family History

open access: green, 2015
Estelle Colin   +10 more
openalex   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa   +7 more
wiley   +1 more source

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