Results 241 to 250 of about 911,944 (331)

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

Role of Ca²⁺/calmodulin and PI3K/AKT signaling pathways and active ingredients of BaoTaiYin in treatment of recurrent miscarriage. [PDF]

Front Mol Biosci
Ji L, Deng A, Chen H, Guo S, Wang P, Zhang R, Chen W, Fan T, Jiang L, Shen B.   +9 more
europepmc   +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

Progestogens in women with threatened miscarriage or recurrent miscarriage: A meta-analysis. [PDF]

Acta Obstet Gynecol Scand
Zhao Y, D'Souza R, Gao Y, Hao Q, Kallas-Silva L, Steen JP, Guyatt G.   +6 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

Unveiling the molecular mechanisms of recurrent miscarriage through endoplasmic reticulum stress related gene expression. [PDF]

Sci Rep
Yin X, Yang W, Xin M, Han Q, Guan S, He J.   +5 more
europepmc   +1 more source

Functional Sneeze: A Case Report

Movement Disorders Clinical Practice, EarlyView.
Alexandra Lodge, Barnaby J. Proctor, Jan Coebergh   +2 more
wiley   +1 more source

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu, Sen Zhao, Roni Zemet, Christian M. Parobek, Jefferson Cruz Sinson, Stacy Tankersley, Ignatia B. Van den Veyver, Pengfei Liu   +7 more
wiley   +1 more source

Recurrent miscarriage and low-titer antiphospholipid antibodies. [PDF]

Clin Rheumatol
Chen J, Yue J, Lu Y, Li T, Li X, Zhang JY.   +5 more
europepmc   +1 more source

Impact of Maternal Body Mass Index (BMI) on the Performance of Non‐Invasive Prenatal Testing (NIPT)

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Noninvasive prenatal testing (NIPT) is widely used to screen for common fetal trisomies. Fetal fraction (FF), essential for NIPT accuracy, can be influenced by maternal obesity. This study analyzes NIPT results by obesity status and suggests strategies to improve performance. Method This observational retrospective study evaluated FF,
Kristina Valovicova, Marike Polak, Sophie Ottema, Glenn Huijbregts, Marieke Joosten, Karin E. M. Diderich, Mark Drost, Sandra Heil, Sander Galjaard, Diane Van Opstal, Malgorzata Ilona Srebniak   +10 more
wiley   +1 more source