Results 111 to 120 of about 76,101 (196)

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

Adverse perinatal outcomes associated with macrosomia in nulliparous women: A multicenter cohort study. [PDF]

open access: yesInt J Gynaecol Obstet
Peled T   +6 more
europepmc   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear   +7 more
wiley   +1 more source

Hemolytic Disease of the Fetus and Newborn: Fetal RHD Genotyping, Targeted Prophylaxis, and Prenatal Therapies

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Hemolytic disease of the fetus and newborn (HDFN) remains a significant concern in prenatal care primarily caused by maternal alloimmunization against fetal red blood cell antigens, most commonly the D antigen. Noninvasive fetal RHD genotyping, used as a screening tool, enables targeted antenatal prophylaxis and has been implemented in several
Emilie Thorup   +4 more
wiley   +1 more source

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner   +11 more
wiley   +1 more source

Prenatal Detection of Fetal Abdominal Cysts: Can We Reassure Future Parents?

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aimed to evaluate the perinatal outcome of fetal abdominal cysts based on the timing of prenatal diagnosis and identify prenatal characteristics associated with postnatal surgical intervention. Methods Fetuses with prenatally detected isolated abdominal cysts referred between January 2007 and December 2022 were included ...
H. Heinrich   +8 more
wiley   +1 more source

Home - About - Disclaimer - Privacy