Results 121 to 130 of about 4,096,588 (418)

Fetal Ultrasound Image Segmentation for Measuring Biometric Parameters Using Multi-Task Deep Learning [PDF]

arXiv, 2019
Ultrasound imaging is a standard examination during pregnancy that can be used for measuring specific biometric parameters towards prenatal diagnosis and estimating gestational age. Fetal head circumference (HC) is one of the significant factors to determine the fetus growth and health.
arxiv  

ISUOG Practice Guidelines: invasive procedures for prenatal diagnosis

Ultrasound in Obstetrics and Gynecology, 2016
These guidelines may have been translated, from the originals published by ISUOG, by recognized experts in the field and have been independently verified by reviewers with a relevant first language.
T. Ghi, A. Sotiriadis, P. Calda, F. Costa, N. Raine-Fenning, Z. Alfirevic, G. McGillivray   +6 more
semanticscholar   +1 more source

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

Deep Learning with Attention to Predict Gestational Age of the Fetal Brain [PDF]

arXiv, 2018
Fetal brain imaging is a cornerstone of prenatal screening and early diagnosis of congenital anomalies. Knowledge of fetal gestational age is the key to the accurate assessment of brain development. This study develops an attention-based deep learning model to predict gestational age of the fetal brain.
arxiv  

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Research into the intervention effect of folic acid on arsenic-induced heart abnormalities in fetal rats during the periconception period

BMC Cardiovascular Disorders, 2020
Background The incidence of CHD is the highest among birth defects and is increasing year to year. CHD seriously harms the health of infants and young children and presents a large economic burden to families and society.
Lin Na, Bai Q, Zhao Xiumei, Zhuang Lingzi, He Deqin, Zhuang Xuanxuan, Guo Huanhuan, Lin Yuan, Chen Xiujuan   +8 more
doaj   +1 more source

Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This exploratory cross‐sectional study aimed to estimate the family quality of life (FQoL) among 70 Brazilian families with children with Cornelia de Lange syndrome (CdLS). Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5‐point Likert tool
Aline Apis, Beatriz Carvalho Nunes, Thainá Vilella, Rafaela Catelan Martins Pereira, Rui Fernando Pilotto, Lucimar Retto da Silva de Avó, Maria Isabel Melaragno, Carla Maria Ramos Germano, Débora Gusmão Melo   +8 more
wiley   +1 more source

Identification of a novel pathogenic variant in the MYH3 gene in a five‐generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A)

Molecular Genetics & Genomic Medicine, 2020
Background Distal arthrogryposis (DA) is a group of rare Mendelian conditions that demonstrate heterogeneity with respect to genetics and phenotypes. Ten types of DAs, which collectively involve six genes, have been reported.
Jing Zhang, Wen‐Qi Chen, Si‐Wen Wang, Shao‐Xiong Wang, Mei Yu, Qing Guo, Ya‐Dong Yu   +6 more
doaj   +1 more source

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

Prenatal Diagnosis, 2015
Accurate prenatal diagnosis of genetic conditions can be challenging and usually requires invasive testing. Here, we demonstrate the potential of next‐generation sequencing (NGS) for the analysis of cell‐free DNA in maternal blood to transform prenatal ...
L. Chitty, S. Mason, A. Barrett, Fiona McKay, N. Lench, R. Daley, L. Jenkins   +6 more
semanticscholar   +1 more source