Use of cell-free DNA to screen for Down's syndrome

New England Journal of Medicine

Volumn 372, Issue 17, 2015, Pages 1666-1667

  Chitty, Lyn S ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CELL FREE SYSTEM; CHROMOSOME ABERRATION; CHROMOSOME REARRANGEMENT; COPY NUMBER VARIATION; CULTURAL FACTOR; DOWN SYNDROME; EDITORIAL; FEMALE; HEALTH CARE ORGANIZATION; HIGH RISK PREGNANCY; HUMAN; MOSAICISM; PREDICTIVE VALUE; PREGNANCY TERMINATION; PRIORITY JOURNAL; SCREENING TEST; SENSITIVITY AND SPECIFICITY; SEX CHROMOSOME; SOCIAL ASPECT; TRISOMY 21; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES;

DNA;

DNA; DOWN SYNDROME; FEMALE; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 84928494208     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMe1502441     Document Type: Editorial

References (12)

1. Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 2011;31:7-15.
2. Chandrasekharan S, Minear MA, Hung A, Allyse M. Non-invasive prenatal testing goes global. Sci Transl Med 2014;6:231fs15.
3. Twiss P, Hill M, Daley R, Chitty LS. Non-invasive prenatal testing for Down syndrome. Semin Fetal Neonatal Med 2014; 19:9-14.
4. American College of Obstetricians and Gynecologists Committee on Genetics. Committee opinion no. 545: noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol 2012;120:1532-4.
5. Benn P, Borrell A, Crossley J, et al. Aneuploidy screening: a position statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, January 2011. Prenat Diagn 2011;31:519-22.
6. Norton ME, Jacobsson B, Swamy GK, et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med 2015;372:1589-97.
7. Wang JC, Sahoo T, Schonberg S, et al. Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases. Genet Med 2015;17:234-6.
8. Wang Y, Chen Y, Tian F, et al. Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Clin Chem 2014;60:251-9.
9. Cheung SW, Patel A, Leung TY. Accurate description of DNA-based noninvasive prenatal screening. N Engl J Med 2015;372:1675-7.
10. Snyder MW, Simmons LE, Kitzman JO, et al. Copy-number variation and false positive prenatal aneuploidy screening results. N Engl J Med 2015;372:1639-45.
11. Taglauer ES, Wilkins-Haug L, Bianchi DW. Review: cell-free fetal DNA in the maternal circulation as an indication of placental health and disease. Placenta 2014;35:Suppl:S64-S68.
12. Allyse M, Minear MA, Berson E, et al. Non-invasive prenatal testing: a review of international implementation and challenges. Int J Womens Health 2015;7:113-26.