Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.
نویسندگان
چکیده
Wybo Dondorp*,1, Guido de Wert1, Yvonne Bombard2, Diana W Bianchi3, Carsten Bergmann4,5, Pascal Borry6, Lyn S Chitty7, Florence Fellmann8, Francesca Forzano9, Alison Hall10, Lidewij Henneman11, Heidi C Howard12, Anneke Lucassen13, Kelly Ormond14, Borut Peterlin15, Dragica Radojkovic16, Wolf Rogowski17, Maria Soller18, Aad Tibben19, Lisbeth Tranebjærg20,21,22, Carla G van El11 and Martina C Cornel11 on behalf of the European Society of Human Genetics (ESHG) and the American Society of Human Genetics (ASHG)
منابع مشابه
Comparison of noninvasive prenatal testing of cell‐free DNA in maternal blood and amniocentesis for evaluation of aneuploidy
Background: The aim of this study was to compare noninvasive prenatal testing (NIPT) of cell‐free DNA in maternal blood and amniocentesis in the diagnosis of aneuploidy. This study was designed to evaluate sensitivity, specificity, accuracy, positive predictive value and negative predictive value of NIPT for detection of aneuploidies compared gold standard test of amniocentesis. Materials and m...
متن کاملNon-invasive prenatal testing for rare chromosomal anomalies
Correspondence: Dr. C.A. Ionescu e-mail: antoniuginec@ yahoo.com After numerous clinical validation studies, non-invasive prenatal testing for fetal aneuploidy detection is now a clinical reality. While non-invasive prenatal testing was accepted due to the high accuracy for fetal trisomy (21, 18 and 13) detection, recent research showed that genome-wide analysis is able to detect other fetal an...
متن کاملImplementing non-invasive prenatal testing for aneuploidy in a national healthcare system: global challenges and national solutions
BACKGROUND Since the introduction of non-invasive prenatal testing (NIPT) in 2011, mainly by commercial companies, a growing demand for NIPT from the public and healthcare professionals has been putting pressure on the healthcare systems of various countries. This study identifies the challenges of establishing a responsible implementation of NIPT for aneuploidy in prenatal healthcare, by looki...
متن کاملOverview of the impact of noninvasive prenatal testing on diagnostic procedures.
Noninvasive prenatal testing (NIPT) has had a profound influence in the field of prenatal diagnosis since the 1997 discovery of cell-free fetal DNA in maternal blood. Research has progressed rapidly, with clinical data supporting laboratory studies showing that NIPT is highly sensitive and specific for fetal aneuploidy, resulting in marked uptake in the high-risk patient population. The superio...
متن کاملCell-free fetal DNA testing for fetal aneuploidy and beyond: clinical integration challenges in the US context.
The recent release of new, non-invasive prenatal tests for fetal aneuploidy using cell-free fetal DNA (cffDNA) has been hailed as a revolution in prenatal testing and has triggered significant commercial interest in the field. Ongoing research portends the arrival of a wide range of cffDNA tests. However, it is not yet clear how these tests will be integrated into well-established prenatal test...
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ورودعنوان ژورنال:
- European journal of human genetics : EJHG
دوره شماره
صفحات -
تاریخ انتشار 2015