Selectie van internationale publicaties:
Pertile MD, et al. Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease. Sci Transl Med. 2017;30:9.
Taylor-Phillips S, et al. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis. BMJ Open, 2016;6: p. e010002.
Chitty L, et al. Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down’s syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units. BMJ 2016;354:i3426.
Bianchi DW. Should we ‘open the kimono‘ to release the results of rare autosomal aneuploidies following noninvasive prenatal whole genome sequencing? Prenat Diagn. 2017 ;37:123-125.
Hill M, J et al. Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals. Eur J Hum Genet. 2016; 24:968-75.
Norton, ME, et al. Cell-free DNA Analysis for Noninvasive Examination of Trisomy. New Eng J Med, 2015;372:1589-1597.
Bianchi DW, et al., Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies. JAMA, 2015;314:162-169
Amant et al. Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing. JAMA Oncol 2015;1:814-9.
Gil MM, et al., Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound in Obstetrics & Gynecology 2015;45:249-266
Yaron Y, et al. Current Status of Testing for Microdeletion Syndromes and Rare Autosomal Trisomies Using Cell-Free DNA Technology. Obstet Gynecol. 2015;126(5):1095-9.
Bayindir B, et al. Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management. Eur J Hum Genet 2015;23:1286-93.
Benn P, et al. Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn. 2015;35:725-34
Bianchi DW. Pregnancy: Prepare for unexpected prenatal test results. Nature 2015522(7554):29-30
Bianchi DW et al. DNA sequencing versus standard prenatal aneuploidy screening
Bianchi DW et al. Integration of Noninvasive DNA Testing for Aneuploidy into Prenatal Care: What Has Happened Since the Rubber Met the Road Clinical Chemistry 2013
Ashoor G et al. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks’ gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynaecology 2013.
Nicolaides K.H. et al. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population AJOG 2012.
Hill M et al. Women’s and health professionals’ preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests. Genet Med. 2012
Bianchi DW. From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges. Nature Med 2012;18:1041-51.
Lo YM. Non-invasive prenatal diagnosis by massively parallel sequencing of maternal plasma DNA. Open Biology 2012; 2:120086.
Norton ME et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18.
Bianchi DW, et al. Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing Obstet Gynecol 2012.
Chiu RW, Proc Natl Acad Sci U S A. 2008 Dec 23;105(51):20458-63.
Chiu RW, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity. BMJ 2011;342:c7401.
Chen EZ, et al. Noninvasive prenatal diagnosis of foetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS ONE 6:e21791 (2011).
Palomaki GE, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011;13:913-20.
Sparks AB, et al. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy Prenat Diagn. 2012;3;23-9.