Results 231 to 240 of about 1,325,675 (292)

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal 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, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Feeding and swallowing difficulties in previously hospitalised premature infants in the neonatal intensive care unit: Perspectives from South African caregivers. [PDF]

S Afr J Commun Disord
Sawasawa C, Naidoo L, Sheik Hoosen S.
europepmc   +1 more source

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

Prenatal 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, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Biometric analysis of disc-fovea distance and optic disc diameter in premature infants using wide-field fundus imaging. [PDF]

Sci Rep
Kwak J, Son NH, Bang SP, Jang JH.
europepmc   +1 more source

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

Prenatal 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, Steffen Thorsen, Morten Hanefeld Dziegiel, Olav Bjørn Petersen, Frederik Banch Clausen   +4 more
wiley   +1 more source

A Case Report and Literature Review on Osteo-Oto-Hepato-Enteric Syndrome in Premature Infants Caused by UNC45A Deficiency. [PDF]

Mol Genet Genomic Med
Sun Z, Song Q, Zhang Z, Liu S, Yu R, Chen Y, Liu H, Wang L.   +7 more
europepmc   +1 more source

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal 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, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source

Spontaneous Intestinal Perforation in Extremely Premature Infants Exposed to Early Low-Dose Hydrocortisone. [PDF]

Acta Paediatr
Cambonie G, Jouffrey A, Tessier B, Combes C, Polito A, Gavotto A.   +5 more
europepmc   +1 more source

Translation and cross-cultural adaptation of the Dubowitz Neurological Examination for premature infants in a high-risk outpatient clinic in Brazil. [PDF]

J Pediatr (Rio J)
Massarollo ACD, Wendt GW, Ferreto LED, Vieira AP, Arruda G, Nobre JRDS, Massarollo MD, Mazzo DM, Segala EEP, Pascotto CR, Follador FAC.   +10 more
europepmc   +1 more source

Empowering health literacy in mothers of premature infants during the post-discharge period: a qualitative comparison of nurses' and mothers' perspectives through digital health platforms. [PDF]

BMC Pregnancy Childbirth
Atefeh S, Mahboobeh N, Asghar E, Hamed ZE.   +3 more
europepmc   +1 more source