The last decade has seen tremendous growth and utilization of fetal echocardiography. In order to assess the indications and yield of fetal echocardiography at West Virginia University, all fetal echocardiograms performed during a seven-year period were reviewed. There were 931 fetal echocardiograms performed on 803 women during this time period and there was a large increase in referral rate as has been seen in other regions. The highest yield of abnormalities was seen in fetuses referred secondary to the finding of an abnormal fetal cardiac exam on routine screening ultrasound (55.6%), or fetal anomalies of other organs (8.2%). These two indications alone were responsible for 77.8% of identified cases of congenital heart disease by fetal echocardiography during this time period. The resultant findings highlight the need for thorough obstetrical screening ultrasound, including the four chamber view of the heart.
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Echocardiography
February 2025
Department of Obstetrics and Gynecology, Ministry of Health, Ankara City Hospital, Ankara, Turkey.
Purpose: To investigate fetal cardiac functions and remodeling in pregnancies conceived via in vitro fertilization (IVF).
Methods: This prospective case-control study included 40 singleton IVF pregnancies and 46 uncomplicated control pregnancies at 28-36 weeks of gestation. The IVF group consisted of pregnancies applied to the outpatient clinic, excluding those with anatomical or chromosomal abnormalities.
Front Genet
January 2025
Department of Neurology, West China Hospital of Sichuan University, Chengdu, China.
Background: Patent foramen ovale (PFO) is a congenital defect between the atria, resulting in abnormal hemodynamics. We conducted a genome-wide association study (GWAS) to identify common genetic variants associated with PFO.
Methods: We performed a whole genome sequencing in a discovery cohort of 3,227 unrelated Chinese participants screened for PFO via contrast transthoracic echocardiography (cTTE).
Anal Chem
January 2025
Hunan Provincial Key Laboratory of Micro & Nano Materials Interface Science, College of Chemistry and Chemical Engineering, Central South University, Changsha 410083, China.
Microelectrodes offer exceptional sensitivity, rapid response, and versatility, making them ideal for real-time detection and monitoring applications. Photoelectrochemical (PEC) sensors have shown great value in many fields due to their high sensitivity, fast response, and ease of operation. Nevertheless, conventional PEC sensing relies on cumbersome external light sources and bulky electrodes, hindering its miniaturization and implantation, thereby limiting its application in real-time disease monitoring.
View Article and Find Full Text PDFAm J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
View Article and Find Full Text PDFChildren (Basel)
December 2024
Division of Pediatric Cardiology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
Echocardiography is the main modality in diagnosing acquired and congenital heart disease (CHD) in fetal and pediatric patients. However, operator variability, complex image interpretation, and lack of experienced sonographers and cardiologists in certain regions are the main limitations existing in fetal and pediatric echocardiography. Advances in artificial intelligence (AI), including machine learning (ML) and deep learning (DL), offer significant potential to overcome these challenges by automating image acquisition, image segmentation, CHD detection, and measurements.
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