Results 201 to 210 of about 117,835 (329)

Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole‐exome sequencing (WES) for genetic diagnosis.
Yan Lü   +18 more
wiley   +1 more source

Metabolomics can provide new insights into perinatal nutrition

open access: yesActa Paediatrica, Volume 112, Issue 2, Page 233-241, February 2023., 2023
Abstract Perinatal nutrition is a key factor related to the Developmental Origin of Health and Disease hypothesis, which states that each and every event that happens during the periconceptional period and pregnancy can affect the health status of an individual.
Roberta Pintus   +3 more
wiley   +1 more source

Антенатальная диагностика тощей пуповины

open access: yes, 2011
Дефіцит вартонової драглі (тонкої пуповини) призводить до достатньо великої кількості ускладнень як під час вагітності, так і під час пологів, у зв’язку з чим антенатальна діагностика даної аномалії пуповини представляє особливу цінність.
Гагаев, Ч.Г.   +4 more
core  

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

The panorama of cerebral palsy in Sweden part XIII shows declining prevalence in birth‐years 2011–2014

open access: yesActa Paediatrica, Volume 112, Issue 1, Page 124-131, January 2023., 2023
Abstract Aim To describe epidemiology and characteristics of cerebral palsy (CP) in western Sweden 1954–2014. Methods Population‐based study covering 105 935 live births in the area in 2011–2014. Birth characteristics, neuroimaging findings and outcome were analysed and prevalence calculated.
Kate Himmelmann, Magnus Påhlman
wiley   +1 more source

Correlation of vitamin A levels in umbilical cord blood with neonatal pulmonary diseases

open access: yesPediatrics and Neonatology
Objective: To study the relationship between umbilical cord blood vitamin A (VA) and neonatal lung diseases and explore the impact of umbilical cord blood VA on neonatal lung diseases.
Yu Wei   +4 more
doaj  

Assessment of Learning Curve for Radiofrequency Ablation in Twin Reversed Arterial Perfusion Sequence: A Simulation Model Study

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This study characterized the procedural learning curve of novice practitioners in mastering radiofrequency ablation (RFA) in a simulated twin reversed arterial perfusion sequence (TRAPS) model. Method Twelve novices practiced RFA in a TRAPS model, which was evaluated for validity.
Tanchanok Chaiperm   +6 more
wiley   +1 more source

Home - About - Disclaimer - Privacy