Non-invasive prenatal testing: a review of international implementation and challenges

M Allyse, MA Minear, E Berson, S Sridhar… - … journal of women's …, 2015 - Taylor & Francis
Noninvasive prenatal genetic testing (NIPT) is an advance in the detection of fetal
chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant …

Facilitating informed choice about non-invasive prenatal testing (NIPT): a systematic review and qualitative meta-synthesis of women's experiences

A Cernat, C De Freitas, U Majid, F Trivedi… - BMC pregnancy and …, 2019 - Springer
Background Non-invasive prenatal testing (NIPT) can be used to accurately detect fetal
chromosomal anomalies early in pregnancy by assessing cell-free fetal DNA present in …

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

W Dondorp, G De Wert, Y Bombard… - European Journal of …, 2015 - nature.com
This paper contains a joint ESHG/ASHG position document with recommendations
regarding responsible innovation in prenatal screening with non-invasive prenatal testing …

DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study

GE Palomaki, EM Kloza, GM Lambert-Messerlian… - Genetics in …, 2011 - nature.com
Purpose: Prenatal screening for Down syndrome has improved, but the number of resulting
invasive diagnostic procedures remains problematic. Measurement of circulating cell-free …

[HTML][HTML] Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis

L Zhang, Y Bao, M Riaz, J Tiller, D Liew, X Zhuang… - Genetics in …, 2019 - Elsevier
Purpose To consider the impact and cost-effectiveness of offering preventive population
genomic screening to all young adults in a single-payer health-care system. Methods We …

From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges

DW Bianchi - Nature medicine, 2012 - nature.com
Thus far, the focus of personalized medicine has been the prevention and treatment of
conditions that affect adults. Although advances in genetic technology have been applied …

Women's and health professionals' preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with …

M Hill, J Fisher, LS Chitty, S Morris - Genetics in medicine, 2012 - nature.com
Purpose: To compare the preferences of women and health professionals for key attributes
of noninvasive prenatal diagnosis for Down syndrome relative to current invasive tests …

Noninvasive prenatal diagnosis: pregnant women's interest and expected uptake

R Tischler, L Hudgins, YJ Blumenfeld… - Prenatal …, 2011 - Wiley Online Library
Objective To investigate pregnant women's level of future interest in noninvasive prenatal
diagnosis (NIPD) and what factors might affect expected uptake of this testing. Method …

Noninvasive prenatal genetic testing: current and emerging ethical, legal, and social issues

MA Minear, S Alessi, M Allyse, M Michie… - Annual review of …, 2015 - annualreviews.org
Noninvasive prenatal genetic testing (NIPT) for chromosomal aneuploidy involving the
analysis of cell-free fetal DNA became commercially available in 2011. The low false …

Ethics of routine: a critical analysis of the concept of 'routinisation'in prenatal screening

A Kater-Kuipers, ID de Beaufort, RJH Galjaard… - Journal of medical …, 2018 - jme.bmj.com
In the debate surrounding the introduction of non-invasive prenatal testing (NIPT) in prenatal
screening programmes, the concept of routinisation is often used to refer to concerns and …