Results 161 to 170 of about 131,149 (244)

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

A Cross‐Organ Symphony of Human Immune System Maturation

Organ Medicine, EarlyView.
Zhan‐Li Chen
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

Significance of Pregnancy-Associated Plasma Protein-A Combined with Four-Dimensional Umbilical Artery Doppler in Fetal Growth Restriction: A Case-Control Study. [PDF]

Int J Womens Health
Yan X, He Y, Wang Y, Wang H.
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

Cesarean Scar Implantation in the Evolution of Placenta Accreta Spectrum: Implications for Recognition and Clinical Management. [PDF]

O G Open
Timor-Tritsch IE, Fox KA, Afshar Y.
europepmc   +1 more source

Prenatal Detection of Fetal Abdominal Cysts: Can We Reassure Future Parents?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aimed to evaluate the perinatal outcome of fetal abdominal cysts based on the timing of prenatal diagnosis and identify prenatal characteristics associated with postnatal surgical intervention. Methods Fetuses with prenatally detected isolated abdominal cysts referred between January 2007 and December 2022 were included ...
H. Heinrich, E. W. M. Grijseels, R. Bakx, R. R. Gorter, E. van den Boogaard, E. van Leeuwen, A. Elvan‐Taşpınar, I. H. Linskens, E. Pajkrt   +8 more
wiley   +1 more source

Hemodynamic changes in pregnancies with impaired fetal growth: A systematic review and meta-analysis. [PDF]

Acta Obstet Gynecol Scand
Kempener BMJG, Jorissen LM, Mulder EG, Ghossein-Doha C, van Drongelen J, Scholten RR, Lees CC, de Haas S, Janssen EBNJ, Spaanderman MEA.   +9 more
europepmc   +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

Clinical Grading of Artificial Intelligence‐Based 3D Fetal Brain Segmentations: A Cross‐Vendor Evaluation of Deep Learning in Fetal Neuroimaging

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the performance of automated (sub)cortical fetal brain segmentation methods on a novel 3D ultrasound dataset acquired from a different vendor, and to introduce a clinician‐focused visual evaluation framework complementary to the widely used Dice Similarity Coefficient (DSC).
Moska Aliasi, Linde S. Hesse, Madeleine K. Wyburd, Maartje C. Snoep, Renee M. Smit, Ana I. L. Namburete, Monique C. Haak   +6 more
wiley   +1 more source