1. Dar P et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based non-invasive prenatal aneuploidy testing (manuscript under review).

2. Pergament E et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort (manuscript in press).

3. Song Y et al. Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population. Prenat Diagn 2013; 33(7):700-6.

4. Nicolaides KH et al. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 2012; 207(5):374.e1-6.

5. Gil MM et al. Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound Obstet Gynecol 2013; 42(1):34-40.

6. Gregg A et al. ACMG policy statement on noninvasive prenatal screening for fetal aneuploidy. American College of Medical Genetics and Genomics (ACMG), 2013 Apr.

7. Nicolaides KH et al. Maternal Fetal Medicine Foundation Congress June 2013. Four samples of diandric triploidy identified as “triploidy or twins”; three samples of digynic triploidy identified as having abnormally low fetal fraction, correctly raising suspicion of triploidy.

8. Samango-Sprouse C et al. SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy. Prenat Diagn, 2013 June; 33(7):643-9.

9. Futch et al. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples Prenat Diagn 2013;33:569-74.

10. Bianchi et al. DNA Sequencing versus Standard Prenatal Aneuploidy Screening N Engl J Med 2014;370:799-808.

11. Porreco et al. Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA. Am J Obstet Gynecol 2014;210.

12. Verweij et al. European Non-Invasive Trisomy Evaluation (EU-NITE) study: a multicenter prospective cohort study for non-invasive fetal trisomy 21 testing, Prenat. Diagn. 2013;1-6.  

13. Jackson et al. Prenat Diagn 2013;33(Suppl. 1):1-26 (Abstract 9-6).

14. Illumina internal data (

15. Mazloom A et al. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat Diagn, 2013; 33(6):581-7.

16. Nicolaides KH et al. Assessment of fetal sex aneuploidy using directed cell-free DNA analysis. Fetal Diagn Ther, Epub 2013 Dec 11.

17. Nicolaides KH et al. Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X and Y.Prenat Diagn, 2013; 33(6):575-9.

18. Palomaki GE et al. DNA sequencing of maternal plasma reliably identified trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med2012; 3:296-305.

19. Sequenom internal data (

20. Bianchi DW et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012; 5:890-901.

21. Ashoor G et al. Chromosome-selective sequencing of maternal plasma cell-free DNA for first trimester detection of trisomy 18. Am J Obstet Gynecol 2012 Apr; 206(4)322.31-5.

22. Ashoor G et al. Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method. Ultrasound Obstet Gynecol 2-12; 207:1.e1-1.e6.

23. Ariosa internal data (

24. Sequenom’s product literature “The Enhanced Sequencing Series” 31-20187R1.0 1013

25. Verifi marketing communication

26. Natera internal data

27. Wang Y et al. Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Clinical Chemistry 2014; 60(1):251-9.

28.  Levy, B. et al.  Highly multiplexed targeted single-nucleotide polymorphism (SNP) amplification and sequencing as a method for identifying fetal chromosomal disorders from maternal cell-free DNA.  Presented ESHRE, July 9, 2013.

29.  Ley, B et al.  Use of targeted sequencing of SNPs to achieve highly accurate non-invasive detection of fetal aneuploidy of chromosomes 13, 18, 21 and sex chromosomes. Poster.

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