Results 271 to 280 of about 97,243 (292)

Global modulation of gene expression and transcriptome size in aneuploid combinations of maize. [PDF]

Proc Natl Acad Sci U S A
Yang H, Brennan V, Gao Z, Liu J, Boadu F, Cheng J, Birchler JA.   +6 more
europepmc   +1 more source

Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia

Prenatal Diagnosis, Volume 45, Issue 12, Page 1651-1659, November 2025.
ABSTRACT Objective Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole‐exome sequencing (WES) for genetic diagnosis.
Yan Lü, Yi Yu, Jiazhen Chang, Mengmeng Li, Xueting Yang, Xiya Zhou, Na Hao, Hua Meng, Zhenghong Li, Lishuang Ma, Hui You, Shan Jian, Ying Wang, Shengjie Li, Yiqing Yu, Kaili Yin, Mingming Wang, Yulin Jiang, Qingwei Qi   +18 more
wiley   +1 more source

Integrating the Continuum of Genetic Testing From Fetus to Neonate: A Review of Prenatal Genetic Testing and the Overlap With Newborn Testing. [PDF]

Prenat Diagn
Harris S, Vora NL.
europepmc   +1 more source

A Prospective Evaluation of the Diagnostic Utility for Low‐Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis

Prenatal Diagnosis, Volume 45, Issue 12, Page 1525-1538, November 2025.
ABSTRACT Objective The present study aimed to evaluate the efficacy of LC‐GS in detecting clinically relevant chromosomal abnormalities in comparison with conventional CMA within a prenatal context. Methods We conducted a prospective study involving 200 amniotic fluid samples.
Yan Yin, Yuxia He, Chun Chen, Yanyan He, Jin Wang, Shengfang Qin, Hongna Wang, Kun Ma, Dahui Hu, Rui Xiao, Gang Wang, Xueyan Wang   +11 more
wiley   +1 more source

Residual Risks of Fetal Chromosome Aberrations When Cell‐Free DNA Prenatal Screening Is Normal: A Retrospective Study

Prenatal Diagnosis, Volume 45, Issue 12, Page 1559-1571, November 2025.
ABSTRACT Objectives To estimate the residual risk of fetal chromosomal aberrations in pregnant women with normal cell‐free DNA (cfDNA) screening results to refine prenatal counseling. Methods A retrospective single‐center study was conducted between April‐2017 and March‐2021. In total, 46,007 women received a normal cfDNA screening result.
Adriana I. Iglesias, Diane Van Opstal, Florentine F. Thurik, Mark Drost, Marjolein J. A. Weerts, Marieke Joosten, Karin E. M. Diderich, Vyne van der Schoot, Myrthe van den Born, Robert‐Jan H. Galjaard, Stefanie van Veen, Eveline Goedegebuur‐Zwalua, Sabina de Weerd, Anneke Dijkman, Dimitri Papatsonis, Jérôme M. J. Cornette, Sander Galjaard, Maarten F. C. M. Knapen, Krista Prinsen, Attie T. J. I. Go, Kyra E. Stuurman, Malgorzata I. Srebniak   +21 more
wiley   +1 more source

Clinical Insights Regarding the Targeted Chromosomal Region for Mosaicism and Aneuploidy in Embryos in IVF Treatment and Literature Review. [PDF]

Diagnostics (Basel)
Doroftei B, Savuca A, Anton N, Maftei R, Cretu AM, Bivoleanu AR, Doroftei M, Ilea C.   +7 more
europepmc   +1 more source

Prenatal Metabolomics Analysis and Fetal Congenital Anomalies and Genetic Conditions: A Review of Current Literature

Prenatal Diagnosis, Volume 45, Issue 12, Page 1544-1558, November 2025.
ABSTRACT Fetal congenital anomalies and genetic disorders complicate 3%–5% of pregnancies and can have a significant impact on pregnancy outcomes. Precise and individualized prenatal diagnosis is crucial for effective counseling and management.
Sarah Araji, Onur Turkoglu, Mohamad Ali Maktabi, Tracy Ashby, Ignatia B. Van den Veyver   +4 more
wiley   +1 more source

Molecular Analysis of Cerebrospinal Fluid Tumor-Derived DNA to Aid in the Diagnosis and Targeted Treatment of Breast Cancer Brain Metastasis. [PDF]

Diseases
Youssef M, Larson A, Udhane V, Keo V, Schilter KF, Nie Q, Reddi HV.   +6 more
europepmc   +1 more source

Middle Cerebral Artery Peak Systolic Velocity in Fetuses With Transposition of the Great Arteries

Prenatal Diagnosis, Volume 45, Issue 12, Page 1615-1620, November 2025.
ABSTRACT Objective To examine peak systolic velocity in the middle cerebral artery (MCA‐PSV) in fetuses with transposition of the great arteries (TGA) and evaluate if TGA is associated with fetal anemia. Method A retrospective, exploratory study with inclusion of singleton fetuses born with TGA at Copenhagen University Hospital Rigshospitalet 2016–2023.
Ditte S. Jørgensen, Charlotte K. Ekelund, Lone Nørgaard, Frederikke H. Sander, Jesper Steensberg, Karin Sundberg, Niels Vejlstrup, Olav B. Petersen, Cathrine Vedel   +8 more
wiley   +1 more source

Chloroplast genome diversity and phylogenetic insights of Saccharum spontaneum across Southeast Asia

PLANTS, PEOPLE, PLANET, Volume 7, Issue 6, Page 1834-1844, November 2025.
Climate change and threats to global food security have increased the urgency of conserving genetic resources in key crops like sugarcane. In this study, we analyzed the chloroplast genomes of wild sugarcane to assess their genetic diversity and population structure. We found a high level of diversity, regardless of geographic location, and patterns of
Sicheng Li, Zhen Wang, Chaohua Xu, Lijun Zhang, Baoqing Zhang, Yuxin Huang, Xin Lu, Weixing Duan, Xiping Yang   +8 more
wiley   +1 more source