Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing

Obstetrics and Gynecology

Volumn 119, Issue 6, 2012, Pages 1270-

  Benn, Peter ^a   Cuckle, Howard ^b   Pergament, Eugene ^c  

^a UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^b NewYork Presbyterian Hospital   (United States)

^c Northwestern Reproductive Genetics   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANEUPLOIDY; DIAGNOSTIC ACCURACY; DNA SEQUENCE; DOWN SYNDROME; EDWARDS SYNDROME; GENETIC ASSOCIATION; GENOME ANALYSIS; LETTER; MATERNAL PLASMA; PATAU SYNDROME; PRIORITY JOURNAL; TRISOMY;

ANEUPLOIDY; CHROMOSOME DISORDERS; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE ANALYSIS, DNA;

EID: 84861603429     PISSN: 00297844     EISSN: None     Source Type: Journal    
DOI: 10.1097/AOG.0b013e318258c401     Document Type: Letter

References (5)

1. Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012; Feb 22 [Epub ahead of print].
2. Chiu RW, Akolekar R, Zheng YW, Leung TY, Sun H, Chan KC, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validation study. Br Med J 2011;342: c7401.
3. Ehrich M, Deciu C, Zweifellhofer T, Tynan JA, Cagasan L, Tim R, et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 2011;204:205.e1-11.
4. Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011;13: 913-20.
5. Benn P, Borrell A, Cuckle H, Dugoff L, Gross S, Johnson J, et al. 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;32:1-2.