Results 51 to 60 of about 2,899 (173)

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

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

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

Prenatal Metabolomics Analysis and Fetal Congenital Anomalies and Genetic Conditions: A Review of Current Literature

Prenatal Diagnosis, EarlyView.
ABSTRACT Fetal congenital anomalies and genetic disorders complicate 3%–5% of pregnancies and can have a significant impact on pregnancy outcomes. Precise and individualized prenatal diagnosis is crucial for effective counseling and management.
Sarah Araji, Onur Turkoglu, Mohamad Ali Maktabi, Tracy Ashby, Ignatia B. Van den Veyver   +4 more
wiley   +1 more source

Elucidating the etiology of idiopathic spontaneous intraperitoneal hemorrhage

Journal of Forensic Sciences, EarlyView.
Abstract Free blood within the abdominal cavity (hemoperitoneum) presents a significant diagnostic and interpretive challenge. It may result from trauma or occur spontaneously in association with underlying disease conditions. When no source of fatal hemorrhage is identified, the implications extend across forensic, criminalistic, legal, and ethical ...
Dalibor Kovařík, Štěpánka Pohlová Kučerová, Lenka Zátopková, Petr Hejna, Martin Janík   +4 more
wiley   +1 more source

Nationwide Danish Register Based Study Showed a Stable Prevalence of Congenital Diaphragmatic Hernias From 1994 to 2021 but a Decrease in Syndromic Cases

Acta Paediatrica, EarlyView.
ABSTRACT Aim Congenital diaphragmatic hernia (CDH) is a severe malformation with high morbidity and mortality. This Danish study evaluated the birth prevalence, co‐occurring malformations, and temporal trends of CDH over nearly three decades. Methods Nationwide data from the Danish Biobank Register were used to identify liveborn infants diagnosed with ...
Ulrik Lausten‐Thomsen, Paula L. Hedley, Kristin M. Conway, Katrine M. Løfberg, Lars S. Johansen, Paul A. Romitti, Michael Christiansen   +6 more
wiley   +1 more source

Rol de la TC multicorte en las hernias diafragmáticas: Ensayo iconográfico Role of Multislice Computed Tomography in the evaluation of diaphragmatic hernias: Pictorial essay

Revista Argentina de Radiología, 2009
Las hernias diafragmáticas consisten en la migración de estructuras abdominales hacia el tórax a través de un defecto del diafragma. Ellas pueden tener origen congénito (de Morgagni y de Bochdalek) o adquirido, incluyendo las traumáticas o no traumáticas
Mario G. Santamarina, Stéfano Rinaldi Crespo, Alberto D. Baltazar, Mariano M. Volpacchio   +3 more
doaj  

Incidentally revealing of CHD in a 52 year-old man: Case report and literature review

Radiology Case Reports
Congenital hernia of the diaphragmatic dome is defined as a congenital embryopathy where all or part of the diaphragmatic dome fails to form during embryonic development.
Idriss Chami Khazraji, MD, Rayhana Charif Saibari, MD, Samia Bennani, MD, Amal Rami, PhD, Mohamed Amine Ait Achour, MD, Rajaa Lafhal, MD, Mustapha Noussair, PhD   +6 more
doaj   +1 more source

Long‐term gastrointestinal outcomes in pediatric intestinal malrotation patients following operative treatment

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Katie E. Corcoran, Sydney A. Martinez, Savas Tsikis, Mohammad A. Al‐Mamun, Intestinal Malrotation Clinician Group   +4 more
wiley   +1 more source

Outcomes for Congenital Diaphragmatic Hernia in Three Decades: A Report From a UK Surgical Centre

Acta Paediatrica, EarlyView.
ABSTRACT Aims Congenital diaphragmatic hernia (CDH) is associated with lung hypoplasia, pulmonary hypertension and high mortality. Three decades experience from a UK centre is reported. Methods Medical records of CDH newborns between February 1990 and November 2021 and attending a multidisciplinary clinic were examined. Survival and health outcomes are
Wan Teng Lee, Paul D. Losty
wiley   +1 more source