Results 61 to 70 of about 17,066 (189)

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

Strangulated diaphragmatic hernia [PDF]

Thorax, 1968
Seventy-six cases of strangulated diaphragmatic hernia were reported up to 1953. An additional 64 cases reported between 1953 and 1966 are reviewed in this paper. The incidence of strangulation in various types of congenital/traumatic, hiatal, and incisional herniae is discussed.
openaire   +2 more sources

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

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

Congenital diaphragmatic hernia

Emergency Medicine Journal, 2008
A female infant aged 5.5 months of Balkan origin arrived at the emergency department of our hospital with fever of 38.8°C, tachypnoea of 60 breaths per minute, heart rate of 110 beats per minute and oxygen saturation of 100%. The patient was admitted to the Paediatric Clinic and underwent full laboratory and culture tests, which were negative for ...
A A K, Kotis, P, Tsikouris, L, Guindaglia   +2 more
openaire   +4 more sources

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Prenatal Magnetic Resonance Imaging Assessment of Fetal Airway Dimensions: Establishing an Anthropometric Database

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Fetal airway anomalies can severely impair breathing at birth, potentially causing brain injury or death. Thus, early prenatal diagnosis is essential. While MRI is the most effective imaging modality for evaluating fetal airways, normative MRI data remain scarce.
Juliette Houssin, Ahmed El Ahmadi, Robinson Gravier‐Dumonceau, Richard Nicollas, Eric Moreddu   +4 more
wiley   +1 more source

Acute symptoms of depression and traumatic stress in men and women who terminate pregnancy after the detection of fetal anomaly: A prospective observational study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
Abstract Objective To assess acute and long‐term stress in men and women after the detection of fetal anomalies leading to pregnancy termination. Design Prospective observational study. Setting Tertiary referral centre for fetal medicine. Population From the initial sample of 180 pregnant women with a fetal anomaly detected by ultrasound examination, a
Mona Bekkhus, Aurora Oftedal, Guttorm Haugen, Berit Mortensen, Anne Kaasen   +4 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