First and second trimester antenatal screening for Down's syndrome: the results of the serum, urine and ultrasound screening study (SURUSS). J Med Screen 2003;10(2):56-104.
First-trimester or second-trimester screening, or both, for Down'syndrome. N Engl J Med 2005 Nov;353(19):2001-2011.
Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review. Obstet Gynecol 2007 Sep;110(3):687-694.
Presence of fetal DNA in maternal plasma and serum. Lancet 1997 Aug;350(9076):485-487.
Presence of fetal RNA in maternal plasma. Clin Chem 2000 Nov;46(11):1832-1834.
Noninvasive prenatal diagnosis by fetal nucleic acid analysis in maternal plasma: the coming of age. Semin Fetal Neonatal Med 2011 Apr;16(2):88-93.
Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. Prenat Diagn 2002 Jul;22(7):609-615.
Analysis of fetal blood cells in the maternal circulation: challenges, ongoing efforts, and potential solutions. Stem Cells Dev 2004 Feb;13(1):93-99.
Non-invasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci US A 2008 Oct;105(42):266-271.
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci USA 2008 Dec;105(51):20458-20463.
Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 2011 Mar;204(3):205.e1-11.
Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles. Clin Chem 2011 Jan;57(1):92-101.
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011 Nov;13(11):913-920.
Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One 2011;6(7):e21791.
Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem 2011 Jul;57(7):1042-1049.
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med 2012 Mar;14(3):296-305.
Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012 May;119(5):890-901.
Maternal plasma DNA analysis with massively parallel sequencing by ligations for noninvasive prenatal diagnosis of trisomy 21. Clin Chem 2010 Mar; 56(3):459-463.
Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet 2009 Oct;41(10):1061-1067.
Substantial biases in ultra-short read data sets from high-throughput DNA sequencing. Nucleic Acid Res 2008 Sep;36(16):e105.
Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am J Ob Gyn 2012 Apr;206(4):322.e1-e5.
Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 2012 Nov;207(5):374.e1-e6.
Noninvasive chromosomal evaluation (NICE) study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gyn 2012 Aug;207(2):137.e1-e8.
Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn 2012 Jan;32(1):1-7.
Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012 Apr;206(4):319.e1-e9.
Noninvasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targets massively parallel sequencing of maternal plasma DNA. PLoS One 2012;7(5):e38154.
Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 2012 Dec;32(13):1233-1241.
Reliable concurrent calling of multiple genetic alleles and 24-chromosome ploidy without embryo freezing using Parental Support TM technology (PS). Fertil Steril 2008 Sep;90(Suppl 1):S23.
Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol. Hum Reprod 2010 Apr;25(4):1066-1075.
Smith's recognizable patters of human malformation. 6th ed. Philadelphia: Elsevier Health Sciences/Saunders; 2006. p 8-87.
Genetics in obstetrics and gynecology. Philadelphia: Elsevier Health Sciences/Saunders; 2002. p323-344.
Validation of targeted sequencing of single-nucleotide polymorphisms for noninvasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. Prenat Diagn 2013 Jun; 33(6):575-579.
A copy number variation morbidity map of developmental delay. Nat Genet 2011 Aug;43(9):838-846.
A multicenter, prospective, masked comparison of chromosomal microarray with standard karyotyping for routine and high risk prenatal diagnosis. Am J Obstet Gyn 2012 Jan;206(1):S2.
Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012. Hum Reprod Update 2013 Jul-Aug;19(4):318-329.
Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11105 pregnancies with mixed risk factors. Prenat Diagn 2012 Dec;32(13):1-8.
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. Prenat Diagn 2012 Jan;32(1):1-2.
Position Statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis, April 2013. Prenat Diagn 2013 Jul;33(7):622-629.
Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors. J Genet Couns 2013 Jun;22(3):291-295.
ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med 2013 May;15(5):395-398.
Ethical considerations for choosing between possible models for using NIPD for aneuploidy detection. J Med Ethics 2012 Oct;38(10):614-618.
Maternal serum protein profile and immune response protein subunits as markers for noninvasive prenatal diagnosis of trisomy 21, 18, and 13. Prenat Diagn 2013 Mar;33(3):223-231.
Noninvasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing. Prenat Diagn 2013 May;33(5):409-415.
Noninvasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencing in twin pregnancies. J Matern Fetal Neonatal Med 2013 Mar;26(4):434-437.
DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat Diagn 2012 Aug;32(8):730-734.