Results 11 to 20 of about 10,890 (132)

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

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source

Uses of Bovine Pericardium in General Surgery

ANZ Journal of Surgery, EarlyView.
Bovine pericardium is a versatile biologic material with expanding applications across general surgery. ABSTRACT Background Bovine pericardium (BP) is increasingly utilised in complex surgical reconstruction because of its favourable biological and mechanical properties.
William A. Ziaziaris, Makaela Bowman, Paul D. Morris, Kilian G. M. Brown, Michael J. Solomon, Jerome M. Laurence   +5 more
wiley   +1 more source

A review of congenital diaphragmatic hernia [PDF]

Australasian Journal of Ultrasound in Medicine, 2013
AbstractBackground: Congenital diaphragmatic hernia (CDH) is a simple diaphragmatic defect that is seen frequently in antenatal scans. Though the surgical repair is relatively easy in the neonate, the mortality is high due to pulmonary hypoplasia and pulmonary vascular changes.Materials and Methods: The goals of prenatal imaging are to establish the ...
Marlow, Jay, Thomas, Joseph
openaire   +2 more sources

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum

Clinical Genetics, EarlyView.
Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Lucía Miranda‐Alcaraz, Simone Carbonera, Mónica Mora‐Gómez, Natalia Gallego‐Zazo, Inmaculada Guillén, Elena Padilla, Gaia Visani, Alessia Asaro, Valeria Vásquez‐Amell, Mario Cazalla, Manuel Rodríguez‐Canó, Cristina Silván, Pedro Arias, Juan Andrés Jiménez‐Estrada, Tomás Valle, Alejandro Cruz‐Utrilla, Pilar Escribano‐Subías, Nuria Ochoa Parra, María Jesús del Cerro Marín, Julián Nevado, Spanish PAH Consortium, Pablo Lapunzina, Fabio Sirchia, Jair Tenorio‐Castano   +23 more
wiley   +1 more source

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

The management of congenital diaphragmatic hernia [PDF]

Canadian Anaesthetists’ Society Journal, 1966
On ne connait pas exactement la frequence de la hernie diaphragmatique congenitale, mais elle peut se presenter comme un cas d’extreme urgence chez le nouveau-ne. De 1959 a 1964, a 1’ “Hospital for Sick Children” de Toronto, on a opere d’urgence vingt-et-un nouveaux-nes durant les trente premieres heures de leur vie.
R E, Creighton, J S, Whalen, A W, Conn
openaire   +2 more sources

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Canine Congenital Diaphragmatic Hernia [PDF]

Journal of Veterinary Internal Medicine, 1988
Abstarct Congenital diaphragmatic hernia, affecting both sexes, was present in five of 27 puppies from three father-daughter matings. A purebred Golden Retriever was the common sire. The defect occurred in the left dorsolateral portion of the diaphragm, suggesting failure of closure of the left pleuroperitoneal canal during embryonic ...
B A, Valentine, B J, Cooper, A E, Dietze, D M, Noden   +3 more
openaire   +2 more sources

A Scoping Review of 5‐HT3 Antagonist Antiemetic Medication Safety in the Management of Nausea and Vomiting of Pregnancy

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 9, September 2026.
ABSTRACT Purpose The prescribing of 5‐hydroxytryptamine 3 receptor and type 3 serotonin receptor (5‐HT3) antagonists, particularly ondansetron, for nausea and vomiting in pregnancy (NVP) has increased globally. However, evidence on the safety of these medications in pregnancy remains unclear.
Shannon Morgan, Ebony Quintrell, Danielle J. Russell, Amina Rhaman, Aster Gebremedhin, Caitlin S. Wyrwoll, Erin Kelty   +6 more
wiley   +1 more source