Results 91 to 100 of about 47,394 (257)

Optical genome mapping enhanced by refined variant interpretation in pediatric acute lymphoblastic leukemia

The Journal of Pathology, EarlyView.
Abstract Reliable detection of structural variants (SVs) and copy number variations (CNVs) is crucial in the contemporary diagnostics of pediatric B‐cell acute lymphoblastic leukemia (B‐ALL). However, limitations of commonly used conventional and molecular cytogenetic methods may hinder the accurate genetic characterization of patients.
Anna Bekő, Borbála Péterffy, Alex Hughes, Janka Sára Jakab, Irén Haltrich, Kristóf Balázs Árvai, Gábor Bedics, Katalin Csonka, Gergő Papp, Dóra Kapczár, Bettina Aranka Bohusné Barta, Lajos László Hegyi, Gábor Szalóki, Gábor Barna, András Matolcsy, Bálint Egyed, Zsuzsanna Hevessy, Anne Benard‐Slagter, Sander Palit, Suvi Savola, Csaba Bödör, Donát Alpár   +21 more
wiley   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

The Utilisation of Genetic Counselling Services Amongst Prenatal Healthcare Providers in Gauteng, South Africa

Prenatal Diagnosis, EarlyView.
ABSTRACT Introduction Congenital anomalies and genetic disorders contribute substantially to perinatal morbidity and mortality, particularly in low‐ and middle‐income countries. Prenatal healthcare providers play a key role in identifying affected pregnancies and referring to patients for genetic counselling; however, referral practices remain ...
Megan Duvenhage, Katryn Fourie, Monica Araujo   +2 more
wiley   +1 more source

Novel and High‐Throughput Method of Isolating Single Fetal Cells Using FACS for NIPT

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate fluorescence activated cell sorting (FACS) as a method of single‐cell isolation of rare circulating fetal cells from maternal blood for use in cell‐based non‐invasive prenatal testing (cbNIPT). Method Blood samples (30 mL) were collected from 75 ‘low‐risk’ pregnant women (gestational age 10–15 weeks).
Ripudaman Singh, Bolette Hestbek Nicolaisen, Mathias Kølvraa, Inga Baasch Christensen, Mads Tang Dalsgaard, Lars Henning Pedersen, Niels Uldbjerg, Ida Vogel, Lotte Hatt, Katarina Ravn   +9 more
wiley   +1 more source

Comparative modeling reveals the molecular determinants of aneuploidy fitness cost in a wild yeast model

Cell Genomics
Summary: Although implicated as deleterious in many organisms, aneuploidy can underlie rapid phenotypic evolution. However, aneuploidy will be maintained only if the benefit outweighs the cost, which remains incompletely understood. To quantify this cost
Julie Rojas, James Hose, H. Auguste Dutcher, Michael Place, John F. Wolters, Chris Todd Hittinger, Audrey P. Gasch   +6 more
doaj   +1 more source

Parental Decision‐Making and Pregnancy Outcomes After Increased First‐Trimester Nuchal Translucency: A 12‐Year Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe diagnostic trajectories and parental decision‐making following increased first‐trimester nuchal translucency (NT), according to NT thickness. Method This 12‐year retrospective cohort study was conducted at a French tertiary Prenatal Diagnosis and Fetal Medicine Center and included 316 singleton pregnancies with first ...
Benjamin Birene, Jean‐Paul Bory, Eloi Dondeyne, Anne Charbonneau, Clémence Jacquin, Emilie Landais, Mohamed Dakin, Olivier Graesslin   +7 more
wiley   +1 more source

Human Papillomavirus-Induced Chromosomal Instability and Aneuploidy in Squamous Cell Cancers

Viruses
Chromosomal instability (CIN) and aneuploidy are hallmarks of cancer. CIN is defined as a continuous rate of chromosome missegregation events over the course of multiple cell divisions.
Samyukta Mallick, Yeseo Choi, Alison M. Taylor, Pippa F. Cosper   +3 more
doaj   +1 more source

Diagnostic Testing After Positive Cell‐Free DNA Screening for Sex Chromosome Aneuploidies: Clinical and Socioeconomic Determinants

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To assess socioeconomic and medical factors associated with prenatal confirmatory diagnostic testing after positive prenatal cell‐free (cfDNA) screening for sex chromosome aneuploidies (SCA) in a diverse contemporary patient cohort.
Blair K. Stevens, Sarah Araji, Mohamad Ali Maktabi, Randy Liu, Lauren Westerfield, Michael Wassef, Dejian Lai, Ignatia B. Van den Veyver, Meera Krishnan, Charlotte Lawrence, Siddharth K. Prakash   +10 more
wiley   +1 more source

The Diagnosis and Prenatal Management of Non‐RHD Alloimmunizations

Prenatal Diagnosis, EarlyView.
ABSTRACT Red blood cell (RBC) alloimmunization remains a relevant cause of hemolytic disease of the fetus and newborn (HDFN). Although RhD immunization has significantly decreased since the implementation of systematic prophylaxis, it is still the main cause of alloimmunization in pregnancy.
Mar Bennasar, Antoni Borrell
wiley   +1 more source

Prenatal aneuploidy screening in a low-risk Hispanic population: price elasticity and cost-effectivenessAJOG Global Reports at a Glance

AJOG Global Reports
BACKGROUND: In October 2015, the Massachusetts Medicaid program temporarily stopped reimbursement for procedures in which the International Classification of Diseases, Tenth Edition, code for serum aneuploidy screening used by certain communities was ...
Caitlin M. Clifford, MD, Neil Askew, MS, Diane Smith, MD, Jesus Iniguez, MD, Andrew Smith, MD, Michael D. House, MD, Ashley A. Leech, PhD, MS   +6 more
doaj   +1 more source