Results 191 to 200 of about 145,114 (299)

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

Impact of Maternal Body Mass Index (BMI) on the Performance of Non‐Invasive Prenatal Testing (NIPT)

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Noninvasive prenatal testing (NIPT) is widely used to screen for common fetal trisomies. Fetal fraction (FF), essential for NIPT accuracy, can be influenced by maternal obesity. This study analyzes NIPT results by obesity status and suggests strategies to improve performance. Method This observational retrospective study evaluated FF,
Kristina Valovicova   +10 more
wiley   +1 more source

Jervell and Lange‐Nielsen Syndrome Related Clinical Genetics and Experimental Models

open access: yesPediatric Discovery, EarlyView.
ABSTRACT Jervell and Lange‐Nielsen syndrome (JLNS) is defined by electrocardiographic QT prolongation and sensorineural hearing loss, caused by homozygous or compound heterozygous variants in KCNQ1 and/or KCNE1. KCNQ1 encodes the alpha subunit Kv7.1 of the ion channels accountable for slow delayed rectifier potassium currents (IKs), whereas KCNE1 ...
Yafei Zhou   +3 more
wiley   +1 more source

Dose Sildenafil Citrate Reduce the Incidence of Emergency Cesarean Section and Fetal Distress During Labor? A Randomized Double-Blinded Clinical Trial. [PDF]

open access: yesJ Reprod Infertil
Sharami SH   +5 more
europepmc   +1 more source

Epigallocatechin‐3‐Gallate Suppresses Glioma by Targeting Integrin αvβ3/FAK/ERK Signaling Axis and Matrix Metalloproteinases

open access: yesPhytotherapy Research, EarlyView.
EGCG suppresses glioma progression by targeting integrin αvβ3/FAK/ERK signaling and inhibiting MMP‐2/MMP‐9‐mediated ECM degradation, thereby blocking proliferation, migration, invasion, and promoting apoptosis. ABSTRACT Epigallocatechin‐3‐gallate (EGCG), the most abundant and biologically active catechin in green tea, has been widely reported to ...
Rui Sun   +7 more
wiley   +1 more source

Optimal umbilical artery Doppler chart for predicting placenta‐mediated fetal growth restriction

open access: yesUltrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective To compare the predictive accuracy of selected umbilical artery (UA) pulsatility index (PI) reference charts for outcomes associated with placenta‐mediated fetal growth restriction (FGR). Methods This was a retrospective cohort study of individuals with a singleton pregnancy who underwent UA Doppler assessment ≥ 20 weeks' gestation ...
A. Vayenas   +6 more
wiley   +1 more source

Changing trends in prenatal screening and treatment of cytomegalovirus infection in France: 7‐year national cohort study (2017–2023)

open access: yesUltrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objectives Cytomegalovirus (CMV) is the leading cause of congenital infectious neurosensory impairment. We aimed to present national epidemiological data on maternal CMV infection during pregnancy in France, focusing in particular on primary infection in the periconceptional period or first trimester, and to assess the impact of changes in ...
P. Coste‐Mazeau   +6 more
wiley   +1 more source

Home - About - Disclaimer - Privacy