Results 131 to 140 of about 95,739 (341)

Combining Detailed Fetal Anatomy Scanning in the NT Window Versus Early Second Trimester Scanning at 14–16 Weeks

Journal of Ultrasound in Medicine, EarlyView.
Objectives First‐trimester ultrasound has evolved to incorporate a detailed fetal anatomy scan (FAS) with nuchal translucency (NT) screening. Many institutions use a 2‐visit protocol: NT followed by detailed FAS at 14–16 weeks. We aimed to evaluate whether integrating detailed FAS into the NT window (12 + 5 to 13 + 6 weeks) is non‐inferior in ...
Tomer Shwartz, Sarah M. Cohen, Michal Lipschuetz, Hila Hochler, Yaron Zalel, Dan V. Valsky, Simcha Yagel   +6 more
wiley   +1 more source

Selection forces underlying aneuploidy patterns in cancer

Molecular & Cellular Oncology
Aneuploidy, the presence of an aberrant number of chromosomes, has been associated with tumorigenesis for over a century. More recently, advances in karyotyping techniques have revealed its high prevalence in cancer: About 90% of solid tumors and 50–70 ...
Tamara C. Klockner, Christopher S. Campbell   +1 more
doaj   +1 more source

The development of aneuploidy in somatic cells of experimentally produced triploid larches [PDF]

, 1966
Z. M. Illies
openalex   +1 more source

Chromosomal instability and genomic alterations in cholangiocarcinoma from Northeastern Thailand

The Journal of Pathology, EarlyView.
Abstract Cholangiocarcinoma (CCA) is a lethal cancer of the bile duct and is a major health concern in several parts of the world, including northeastern Thailand, where CCA incidence is the highest due to the endemic liver fluke Opisthorchis viverrini.
Raksawan Deenonpoe, Molly A Guscott, Sasithorn Watcharadetwittaya, Isabel L McNeill, Daniela Moralli, Nadeem Shaikh, Sarah E McClelland   +6 more
wiley   +1 more source

Chromosomal Aneuploidy, Mosaicism and Eugenics [PDF]

, 1969
H Zellweger
openalex   +1 more source

Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia

Prenatal Diagnosis, EarlyView.
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

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

Accurate estimation of homologue-specific DNA concentration-ratios in cancer samples allows long-range haplotyping [PDF]

, 2011
Interpretation of allelic copy measurements at polymorphic markers in cancer samples presents distinctive challenges and opportunities. Due to frequent gross chromosomal alterations occurring in cancer (aneuploidy), many genomic regions are present at ...
Gad Getz, Matthew Meyerson, Scott L. Carter   +2 more
core   +1 more source

Can an Animation Improve Parents' Knowledge and How Does It Compare to Written Information? Development and Survey Evaluation of an Animation for Parents About Prenatal Sequencing

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To develop and evaluate an animation for parents about prenatal sequencing. Methods A total of 428 participants who had been pregnant, or whose partner had been pregnant, in the past 24 months. Parents, patient organisation representatives and clinicians co‐designed the animation describing prenatal sequencing (pS). Participants were
Morgan Daniel, Hannah McInnes‐Dean, Wing Han Wu, Jane Fisher, Caroline Lafarge, Kerry Leeson‐Beevers, Celine Lewis, Sophie Peet, Dagmar Tapon, Sarah L. Wynn, Lyn S. Chitty, Melissa Hill, Michelle Peter   +12 more
wiley   +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, EarlyView.
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