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

Non-invasive prenatal diagnosis: progress and potential

(2014) Rebecca Daley et al.   Archives of Disease in Childhood-Fetal and Neonatal Edition

A cost-effectiveness analysis comparing different strategies to implement noninvasive prenatal testing into a Down syndrome screening program

(2014) Alice C. Ayres et al.   AUSTRALIAN & NEW ZEALAND JOURNAL OF OBSTETRICS & GYNAECOLOGY

Prenatal Screening: An Ethical Agenda for the Near Future

(2014) Antina de Jong et al.   BIOETHICS

A New Ethical Landscape of Prenatal Testing: Individualizing Choice to Serve Autonomy and Promote Public Health: A Radical Proposal

(2014) Christian Munthe   BIOETHICS

Psychological Aspects of Individualized Choice and Reproductive Autonomy in Prenatal Screening

(2014) Jenny Hewison   BIOETHICS

For Your Interest? The Ethical Acceptability of Using Non-Invasive Prenatal Testing to Test ‘Purely for Information’

(2014) Zuzana Deans et al.   BIOETHICS

Explaining variation in Down’s syndrome screening uptake: comparing the Netherlands with England and Denmark using documentary analysis and expert stakeholder interviews

(2014) Neeltje MTH Crombag et al.   BMC HEALTH SERVICES RESEARCH

Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening

(2014) Rachèl V van Schendel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Measuring informed choice in population-based reproductive genetic screening: a systematic review

(2014) Alice Grace Ames et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The consequences of implementing non-invasive prenatal testing in Dutch national health care: a cost-effectiveness analysis

(2014) Lean Beulen et al.   European Journal of Obstetrics & Gynecology and Reproductive Biology

Interventions to enhance informed choices among invitees of screening programmes—a systematic review

(2014) Heleen M.E. van Agt et al.   EUROPEAN JOURNAL OF PUBLIC HEALTH

Introducing WISECONDOR for noninvasive prenatal diagnostics

(2014) Roy Straver et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Israeli Society of Medical Genetics NIPT Committee Opinion 072013: Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma for Detection of Fetal Aneuploidy

(2014) Rachel Michaelson-Cohen et al.   FETAL DIAGNOSIS AND THERAPY

Analysis of Cell-Free DNA in Maternal Blood in Screening for Aneuploidies: Meta-Analysis

(2014) M.M. Gil et al.   FETAL DIAGNOSIS AND THERAPY

Prenatal Whole Genome Sequencing

(2014) Greer Donley et al.   HASTINGS CENTER REPORT

Prenatal-screening companies expand scope of DNA tests

(2014) Erika Check Hayden   NATURE

DNA Sequencing versus Standard Prenatal Aneuploidy Screening

(2014) Diana W. Bianchi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Noninvasive Prenatal Testing for Microdeletion Syndromes and Expanded Trisomies

(2014) Neeta L. Vora et al.   OBSTETRICS AND GYNECOLOGY

Association of Combined First-Trimester Screen and Noninvasive Prenatal Testing on Diagnostic Procedures

(2014) Sebastian Larion et al.   OBSTETRICS AND GYNECOLOGY

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

(2014) Stephen Morris et al.   PLoS One

The price of performance: a cost and performance analysis of the implementation of cell-free fetal DNA testing for Down syndrome in Ontario, Canada

(2014) N. Okun et al.   PRENATAL DIAGNOSIS

Including ethical considerations in models for first-trimester screening for pre-eclampsia

(2014) J.M. Jørgensen et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Non-invasive prenatal testing for trisomy 13: more harm than good?

(2014) E. J. Verweij et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

ISUOG consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice

(2014) L.J. Salomon et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Detection of fetal sex chromosome aneuploidy by massively parallel sequencing of maternal plasma DNA: initial experience in a Chinese hospital

(2014) H. Yao et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Screening for trisomies 21, 18 and 13 by cell-free DNA analysis of maternal blood at 10-11 weeks' gestation and the combined test at 11-13 weeks

(2014) M. S. Quezada et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol

(2014) Melissa Hill et al.   BMC Pregnancy and Childbirth

Introducing the non-invasive prenatal test for trisomy 21 in Belgium: a cost-consequences analysis

(2014) Mattias Neyt et al.   BMJ Open

Integration of Noninvasive DNA Testing for Aneuploidy into Prenatal Care: What Has Happened Since the Rubber Met the Road?

(2013) D. W. Bianchi et al.   CLINICAL CHEMISTRY

Maternal Mosaicism Is a Significant Contributor to Discordant Sex Chromosomal Aneuploidies Associated with Noninvasive Prenatal Testing

(2013) Y. Wang et al.   CLINICAL CHEMISTRY

The ‘thousand-dollar genome’: an ethical exploration

(2013) Wybo J Dondorp et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Whole-genome sequencing in health care

(2013) Carla G van El et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Maternal Plasma Cell-Free Fetal and Maternal DNA at 11-13 Weeks' Gestation: Relation to Fetal and Maternal Characteristics and Pregnancy Outcomes

(2013) L.C.Y. Poon et al.   FETAL DIAGNOSIS AND THERAPY

Genetic medicine and incidental findings: it is more complicated than deciding whether to disclose or not

(2013) Gillian Crawford et al.   GENETICS IN MEDICINE

ACMG statement on noninvasive prenatal screening for fetal aneuploidy

(2013)   GENETICS IN MEDICINE

Impact of prenatal technologies on the sex ratio in India: an overview

(2013) Kamlesh Madan et al.   GENETICS IN MEDICINE

ESHRE Task Force on ethics and Law 20: sex selection for non-medical reasons

(2013) W. Dondorp et al.   HUMAN REPRODUCTION

Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012

(2013) E. Mersy et al.   HUMAN REPRODUCTION UPDATE

Reproductive options for prospective parents in families with Huntington's disease: clinical, psychological and ethical reflections

(2013) C. E. M. de Die-Smulders et al.   HUMAN REPRODUCTION UPDATE

Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors

(2013) Patricia L. Devers et al.   Journal of Genetic Counseling

A New Era in Noninvasive Prenatal Testing

(2013) Stephanie Morain et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ethical and Policy Issues in Genetic Testing and Screening of Children

(2013) et al.   PEDIATRICS

Are health professionals ready for direct-to-consumer genetic and genomic testing?

(2013) Heather Skirton et al.   Personalized Medicine

Review: Cell-free fetal DNA in the maternal circulation as an indication of placental health and disease

(2013) E.S. Taglauer et al.   PLACENTA

Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma

(2013) Eric Wang et al.   PRENATAL DIAGNOSIS

Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population

(2013) Yijun Song et al.   PRENATAL DIAGNOSIS

SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy

(2013) Carole Samango-Sprouse et al.   PRENATAL DIAGNOSIS

Clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population

(2013) Genevieve Fairbrother et al.   PRENATAL DIAGNOSIS

Best ethical practices for clinicians and laboratories in the provision of noninvasive prenatal testing

(2013) M. A. Allyse et al.   PRENATAL DIAGNOSIS

Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service

(2013) Tze Kin Lau et al.   PRENATAL DIAGNOSIS

Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma

(2013) Amin R. Mazloom et al.   PRENATAL DIAGNOSIS

Maternal cfDNA screening for Down syndrome - a cost sensitivity analysis

(2013) Howard Cuckle et al.   PRENATAL DIAGNOSIS

The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies

(2013) Jacob A. Canick et al.   PRENATAL DIAGNOSIS

Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies

(2013) Xuan Huang et al.   PRENATAL DIAGNOSIS

Non-Invasive Prenatal Testing for Down's Syndrome: Pregnant Women's Views and Likely Uptake

(2013) C. Lewis et al.   Public Health Genomics

First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing

(2013) K. H. Nicolaides et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies

(2013) M. M. Gil et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Non-invasive prenatal testing for aneuploidy: current status and future prospects

(2013) P. Benn et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Potential diagnostic consequences of applying non-invasive prenatal testing: population-based study from a country with existing first-trimester screening

(2013) O. B. Petersen et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population

(2012) Kypros H. Nicolaides et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Noninvasive prenatal testing for aneuploidy–ready for prime time?

(2012) Lyn S. Chitty et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Recommendations for the predictive genetic test in Huntington's disease

(2012) R MacLeod et al.   CLINICAL GENETICS

Non-invasive prenatal testing for single gene disorders: exploring the ethics

(2012) Zuzana Deans et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening

(2012) Maria Loane et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature

(2012) Kwon Chan Jeon et al.   GENETICS IN MEDICINE

Non-invasive prenatal screening of fetal sex chromosomal abnormalities: perspective of pregnant women

(2012) Tze Kin Lau et al.   Journal of Maternal-Fetal & Neonatal Medicine

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

(2012) Diana W Bianchi   NATURE MEDICINE

Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

(2012) Diana W. Bianchi et al.   OBSTETRICS AND GYNECOLOGY

Committee Opinion No. 545

(2012)   OBSTETRICS AND GYNECOLOGY

Experts' opinions on the benefit of an incidental prenatal diagnosis of sex chromosomal aneuploidy: a qualitative interview survey

(2012) J. J. P. M. Pieters et al.   PRENATAL DIAGNOSIS

Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors

(2012) Shan Dan et al.   PRENATAL DIAGNOSIS

Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011

(2012) Peter Benn et al.   PRENATAL DIAGNOSIS

Noninvasive Whole-Genome Sequencing of a Human Fetus

(2012) J. O. Kitzman et al.   Science Translational Medicine

Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics

(2012) G. Ashoor et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Non-invasive prenatal diagnosis for Down syndrome: no paradigm shift, just better testing… and it is already here!

(2012) E. J. Verweij et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Advances in prenatal screening: the ethical dimension

(2011) Antina de Jong et al.   NATURE REVIEWS GENETICS

Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy

(2010) Patricia Anne Boyd et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Update on Procedure-Related Risks for Prenatal Diagnosis Techniques

(2010) Ann Tabor et al.   FETAL DIAGNOSIS AND THERAPY

Using population-based data to predict the impact of introducing noninvasive prenatal diagnosis for Down syndrome

(2010) Marleen R Susman et al.   GENETICS IN MEDICINE

Routinisation and constraints on informed choice in a one-stop clinic offering first trimester chromosomal antenatal screening for Down’s syndrome

(2010) Maria Tsouroufli   MIDWIFERY

Increased nuchal translucency in euploid fetuses-what should we be telling the parents?

(2010) C.M. Bilardo et al.   PRENATAL DIAGNOSIS

Non-invasive prenatal testing: ethical issues explored

(2009) Antina de Jong et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetic testing in asymptomatic minors

(2009) Pascal Borry et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

An offer you can't refuse? Ethical implications of non-invasive prenatal diagnosis

(2009) Dagmar Schmitz et al.   NATURE REVIEWS GENETICS

Will the introduction of non-invasive prenatal diagnostic testing erode informed choices? An experimental study of health care professionals

(2009) Ananda van den Heuvel et al.   PATIENT EDUCATION AND COUNSELING

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

(2008) R. W. K. Chiu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

(2008) H. C. Fan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Non-invasive prenatal diagnosis and determination of fetal Rh status

(2008) C. Ellen van der Schoot et al.   Seminars in Fetal & Neonatal Medicine

Ethical aspects arising from non-invasive fetal diagnosis

(2008) Ainsley J. Newson   Seminars in Fetal & Neonatal Medicine