Results 171 to 180 of about 128,890 (256)

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

Prenatal 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, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Resilience, perceived social support and coping style in mothers of infants with congenital anomalies: a cross-sectional, multicenter study. [PDF]

BMC Psychol
Zamaniashtiani F, Aliyari R, Fallahi M, Fomani FK, Kenner C, Tajalli S.   +5 more
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

Fetal Congenital Anomalies: Multi-Regional Magnetic Resonance Imaging Evaluation with Prenatal Ultrasound Correlation. [PDF]

Turk Arch Pediatr
Akyel NG, Ozgul H, Omac Birinci A, Arslanoglu T.   +3 more
europepmc   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Thoracic Abnormalities

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aims to identify the imaging findings specifically for thoracic anomalies in 1200 Micro‐CT cases, independent of whether the abnormality contributed to the main diagnosis or cause of death. Method We analyzed 1200 Micro‐CT scans in an unselected, consecutive cohort between 2017 and 2024 to identify thoracic anomalies ...
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Impact of major congenital anomalies on preterm birth and low birth weight. [PDF]

Sci Rep
Adam H, Ghenimi N, Minsart AF, Narchi H, Al Awar S, Al Hajeri OM, Elbarazi I, Al-Rifai RH, Ahmed LA.   +8 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

Support Needs of Parents of Children With Congenital Anomalies Across Europe: A EUROlinkCAT Survey. [PDF]

Child Care Health Dev
Marcus E, Latos-Bielenska A, Jamry-Dziurla A, Barišić I, Cavero-Carbonell C, Den Hond E, Garne E, Genard L, Santos AJ, Lutke LR, Dias CM, Páramo-Rodríguez L, Pedersen CN, Neville AJ, Niemann A, Odak L, Pierini A, Rissmann A, Rankin J, Morris JK.   +19 more
europepmc   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Patterns and Clinical Outcomes of Congenital Anomalies of the Kidney and Urinary Tract in Preterm Infants. [PDF]

Cureus
AlFaraj EM, Al Ghadeer HA, Al-Sannaa ZH, AlDar MH, Albattat FS.   +4 more
europepmc   +1 more source