Results 51 to 60 of about 3,638 (166)

Result of Prospective Validation of the Trisomy Test^® for the Detection of Chromosomal Trisomies

Diagnostics, 2019
Noninvasive prenatal testing (NIPT) is one of the most common prenatal screening tests used worldwide. Trisomy Test® belongs to NIPT tests based on low-coverage whole-genome sequencing.
Martina Sekelska, Anita Izsakova, Katarina Kubosova, Petra Tilandyova, Erika Csekes, Zaneta Kuchova, Michaela Hyblova, Maria Harsanyova, Marcel Kucharik, Jaroslav Budis, Tomas Szemes, Gabriel Minarik   +11 more
doaj   +1 more source

Preferences of Pregnant Women and Healthcare Professionals on First‐Trimester Ultrasound Screening for Fetal Anomalies: A Discrete Choice Experiment

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The first‐trimester anomaly scan (FTAS) allows early detection of fetal structural anomalies. Decisions on timing and scan protocol influence its performance. Understanding how pregnant women and healthcare professionals value these aspects is essential for shaping screening programs.
Eline E. R. Lust, Kim Bronsgeest, Ian Smith, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Mireille N. Bekker, Monique C. Haak   +9 more
wiley   +1 more source

Noninvasive Prenatal Testing Using Fetal Fraction Enrichment—A Pilot Study

Clinical and Experimental Obstetrics & Gynecology
Background: To evaluate the clinical performance and clinical implementation of noninvasive prenatal testing (NIPT) using fetal fraction (FF) enrichment.
Yun Chen, Yunli Lai, Jian Yi, Shang Yi, Xiaoshan Huang, Yanqing Tang, Jiasun Su, Yiping Shen, Hongwei Wei   +8 more
doaj   +1 more source

Model-based analysis of costs and outcomes of non-invasive prenatal testing for Down's syndrome using cell free fetal DNA in the UK National Health Service.

PLoS ONE, 2014
BackgroundNon-invasive prenatal testing (NIPT) for Down's syndrome (DS) using cell free fetal DNA in maternal blood has the potential to dramatically alter the way prenatal screening and diagnosis is delivered. Before NIPT can be implemented into routine
Stephen Morris, Saffron Karlsen, Nancy Chung, Melissa Hill, Lyn S Chitty   +4 more
doaj   +1 more source

First‐Trimester Down Syndrome Screening in Renal‐Transplanted Pregnant Women: Blood Creatinine Levels Impact False‐Positive Rate

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Over the past few decades, several thousand pregnancies following kidney transplantation have been monitored but few studies have reported on first‐trimester Down syndrome screening. This study aimed to assess the performance of such screening and its relationship with renal function.
Clément Burgy, Lisa Chanourdie, Béatrice Guyard‐Boileau, Anne‐Laure Hebral, Annelise Genoux, Marie‐Sophie Combis, Paul Guerby, Christophe Vayssiere, Safouane M. Hamdi   +8 more
wiley   +1 more source

Expanded non-invasive prenatal testing offers better detection of fetal copy number variations but not chromosomal aneuploidies.

PLoS ONE
PurposeTo evaluate the clinical performance of expanded non-invasive prenatal testing (NIPT-plus) and compare its effectiveness in screening for chromosomal aneuploidies with that of NIPT.MethodsScreening results, confirmatory invasive testing results ...
Shaozhe Yang, Yuan Zhuang, Junfeng Li, Xiuhong Fu   +3 more
doaj   +1 more source

Fetal Fraction Signatures: A Quality Control Tool to Detect Potentially Confounding Situations in NonInvasive Prenatal Diagnosis of Monogenic Conditions

Clinical Genetics, EarlyView.
Noninvasive prenatal diagnosis for monogenic diseases (NIPD‐M) to detect inherited mutations is performed in parallel with fetal fraction signatures, to detect various anomalies that may compromise diagnosis. An extra regression analysis may be necessary to resolve mosaic situations. ABSTRACT Noninvasive prenatal diagnosis relies on the analysis of the
Jean‐Louis Blouin, Claudine Rieubland, Thierry Nouspikel   +2 more
wiley   +1 more source

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman, Annie Perraud, Ester Garne, Ingeborg Barisic, David Tucker, Elisa Ballardini, Lea Bruneau, Clara Cavero‐Carbonell, Ianis Cousin, Miriam Gatt, Katya Kovacheva, Anna Latos‐Bielenska, Mary O'Mahony, Isabelle Monier, Isabelle Perthus, Riccardo Pertile, Anke Rissmann, Florence Rouget, Michelle Santoro, Joanna Sichitiu, Christine Verellen‐Dumoulin, Wladimir Wertelecki, Diana Wellesley, Joan K. Morris   +23 more
wiley   +1 more source

Disparities in integrating non-invasive prenatal testing into antenatal healthcare in Australia: a survey of healthcare professionals

BMC Pregnancy and Childbirth
Background Non-invasive prenatal testing (NIPT) has been clinically available in Australia on a user-pays basis since 2012. There are numerous providers, with available tests ranging from targeted NIPT (only trisomies 21, 18, and 13 +/- sex chromosome ...
Molly Johnston, Lisa Hui, Hilary Bowman-Smart, Michelle Taylor-Sands, Mark D. Pertile, Catherine Mills   +5 more
doaj   +1 more source

Analysis of the accuracy of Z-scores of non-invasive prenatal testing for fetal Trisomies 13, 18, and 21 that employs the ion proton semiconductor sequencing platform

Molecular Cytogenetics, 2018
Background Non-invasive prenatal testing (NIPT) is frequently being used to screen for trisomies 13, 18 and 21 for prenatal diagnosis. However, NIPT performs poorly when compared with invasive testing and thus should not be used to diagnose trisomies ...
Yuan Tian, Linlin Zhang, Weifang Tian, Jinshuang Gao, Liting Jia, Shihong Cui   +5 more
doaj   +1 more source