Results 101 to 110 of about 184,401 (299)

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

Thoracoscopic operations in children [PDF]

, 2014
published_or_final_versio
CT Lau, Jessie Leung, Kenneth KY Wong, null null, Theresa WC Hui   +4 more
core   +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

Pulmonary vascular development in congenital diaphragmatic hernia

European Respiratory Review, 2018
Congenital diaphragmatic hernia (CDH) is a rare congenital anomaly characterised by a diaphragmatic defect, persistent pulmonary hypertension (PH) and lung hypoplasia.
D. Mous, Heleen M. Kool, R. Wijnen, D. Tibboel, R. Rottier   +4 more
semanticscholar   +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

Efficacy of lung volume optimization maneuver monitored by optoelectronic pletismography in the management of congenital diaphragmatic hernia [PDF]

, 2017
Newborns affected by congenital diaphragmatic hernia (CDH) need cardio-respiratory stabilization before undergoing surgical repair. Open lung strategy is a well-established approach to optimize lung volume in preterm infants with Respiratory Distress ...
Aliverti, A, Bresesti, I, Castoldi, F, Cavigioli, F, Lista, G, Lo Mauro, A, Lupo, E   +6 more
core   +2 more sources

Congenital Diaphragmatic hernia – a review

Maternal Health, Neonatology and Perinatology, 2017
Congenital Diaphragmatic hernia (CDH) is a condition characterized by a defect in the diaphragm leading to protrusion of abdominal contents into the thoracic cavity interfering with normal development of the lungs.
Praveen K. Chandrasekharan, Munmun Rawat, Rajeshwari Madappa, D. Rothstein, S. Lakshminrusimha   +4 more
semanticscholar   +1 more source

Resolution of a persistent pneumothorax by blood patch pleurodesis in a cat (Felis catus) with primary pulmonary lymphoma

Veterinary Record Case Reports, EarlyView.
Abstract An 18‐year‐old, spayed, female, domestic shorthair cat was presented to our hospital with acute dyspnoea following an episode of vomiting. Thoracic radiography revealed a severe pneumothorax. Despite multiple thoracocenteses, the pneumothorax persisted. Under general anaesthesia, computed tomography revealed multiple pulmonary masses.
Yuki Hoshino, Reina Fujiwara, Masaaki Katayama, Kohei Nakata, Takahiro Nagumo, Yumiko Kagawa   +5 more
wiley   +1 more source

Laparoscopic treatment of bowel obstruction as a late presentation of traumatic diaphagmatic hernia: case report

Medicina, 2016
Design of the study: Case report. Objectives: To present, through a case report, a post-traumatic diaphragmatic hernia with late diagnosis and reinforce the importance of systematic research of diaphragmatic injury in thoracoabdominal trauma.
Ianê C. Diniz, Milena M. Rodrigues, Thainá S. M. Silva, Carolina B. Lucena, Fábio Colagrossi Paes Barbosa   +4 more
doaj   +1 more source