Results 181 to 190 of about 173,062 (307)

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review

Prenatal Diagnosis, EarlyView.
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim, Alexander Gibbs, Elizabeth Scotchman, Graeme Smith, Lyn S. Chitty, Natalie J. Chandler   +5 more
wiley   +1 more source

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders [PDF]

, 2017
Andrews, Marisa V, et al,, Grange, Dorothy K   +2 more
core   +2 more sources

Experience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study. [PDF]

J Cardiothorac Surg
Liu X, Yang L, Cui J, Liao M, Hou Z, Zhao M, Wang L.   +6 more
europepmc   +1 more source

Fetal Instability and Resuscitative Management During Fetal Intervention: A Retrospective, Descriptive Analysis of 245 Fetal Cardiac and Spina Bifida Procedures

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The heterogeneity of fetal surgery has led to variability in the nature and frequency of fetal instability. Understanding these differences is critical for optimizing management. Methods We reviewed all fetal atrial septal interventions (FASI) and fetoscopic myelomeningocele (fMMC) repairs with fetal instability performed at our ...
Claire A. Naus, Betul Yilmaz Furtun, Jessian L. Munoz, Rebecca M. Johnson, Carolyn A. Altman, Michael A. Belfort, Luc Joyeux, Alice King, David G. Mann, Shaine Morris, Athar M. Qureshi, Magdalena Sanz Cortes, William E. Whitehead, Caitlin D. Sutton   +13 more
wiley   +1 more source

Jervell and Lange‐Nielsen Syndrome Related Clinical Genetics and Experimental Models

Pediatric Discovery, EarlyView.
ABSTRACT Jervell and Lange‐Nielsen syndrome (JLNS) is defined by electrocardiographic QT prolongation and sensorineural hearing loss, caused by homozygous or compound heterozygous variants in KCNQ1 and/or KCNE1. KCNQ1 encodes the alpha subunit Kv7.1 of the ion channels accountable for slow delayed rectifier potassium currents (IKs), whereas KCNE1 ...
Yafei Zhou, Christopher L.‐H. Huang, Ying Yang, Yanmin Zhang   +3 more
wiley   +1 more source

Prenatal ultrasound diagnosis of poland syndrome [PDF]

, 2004
D'ARMIENTO, MARIA, MARTINELLI, PASQUALE, PALADINI, DARIO   +2 more
core   +1 more source

Understanding and managing dextrocardia with <i>situs inversus</i>: A case report. [PDF]

Biomed Rep
Dinesh N, Sreeramaiah MH, Matta Ravi SC, Hampapura Lakkappa Gowda K.   +3 more
europepmc   +1 more source

The transformative potential of artificial intelligence in pediatric medicine: Current applications, methodological challenges, and future directions

Pediatric Investigation, EarlyView.
Artificial intelligence (AI) offers transformative potential for paediatric diagnosis and treatment, yet implementation faces unique challenges, including data scarcity, algorithmic bias, and children's developmental physiology. This review examines current applications and charts a path toward transparent, equitable, and trustworthy AI in child health.
Ruisong Wang, Xiaoman Ding, Wanyue Zhang, Tieliu Shi   +3 more
wiley   +1 more source

Congenital Peritoneopericardial Diaphragmatic Hernia in a Dog: Ventral Advancement Diaphragmatic Technique for Repair. [PDF]

Case Rep Vet Med
Perez-Bello JD.
europepmc   +1 more source

Sympatho‐Excitation in Pulmonary Hypertension: The Potential Role of Pulmonary Arterial Baroreceptors: An Acute Physiologic Intervention Study

Respirology, EarlyView.
Pulmonary arterial baroreceptors reflexively stimulate sympathetic nerve activity (SNA) in response to elevated pulmonary artery pressure and distension. In pulmonary hypertension patients, changes in muscle SNA were proportional to changes in pulmonary haemodynamics following nebulised iloprost.
Michael J. Plunkett, Ana L. C. Sayegh, Robert A. Lewis, Tanya J. McWilliams, Sasiharan Sithamparanathan, Julian F. R. Paton, James P. Fisher   +6 more
wiley   +1 more source