Results 211 to 220 of about 355,554 (310)

A Cross‐Organ Symphony of Human Immune System Maturation

Organ Medicine, EarlyView.
Zhan‐Li Chen
wiley   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +1 more source

An interpretable deep learning model for first-trimester fetal cardiac screening. [PDF]

NPJ Digit Med
Lei W, Wen C, Li H, Yang S, Shen K, Yuan H, Li H, Xu H, Gao X, Zhang S, Yang Z, Ye M, Du B, Wu Q.   +13 more
europepmc   +1 more source

“The Way We Do Things is Unsustainable”—Exploring Symptoms of Burnout Among Healthcare Professionals in Prenatal Genomics

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives This research explored a cross‐country comparison of qualitative and quantitative data assessing the experiences of prenatal genomic healthcare professionals (HCP) in Australia and the Netherlands. Method The interview script included open‐ended questions on work experience, validated scales on compassion fatigue and stress, and ...
Maayke de Koning, Sarah Long, Marit de Vries, Holly Evans, Lauren Kelada, Monique Haak, Gemma Fernihough, Gijs Santen, Manon Suerink, Tony Roscioli   +9 more
wiley   +1 more source

Radiomics analysis of early pregnancy ultrasound images to predict viability at the end of first trimester. [PDF]

Sci Rep
Murugesu S, Linton-Reid K, Barcroft J, Pikovsky M, Saso S, Aboagye EO, Bourne T.   +6 more
europepmc   +1 more source

First trimester abortion.

Minnesota medicine, 1974
J E, Hodgson, K C, Portman
openaire   +1 more source

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source

First-trimester maternal folate and vitamin B12 concentrations and their associations with first-trimester placental growth: the Rotterdam Periconception Cohort. [PDF]

Hum Reprod
van Vliet MM, Schoenmakers S, Willemsen SP, Sinclair KD, Steegers-Theunissen RPM.   +4 more
europepmc   +1 more source

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