Evaluation of a Novel Assay for Detection of the Fetal Marker RASSF1A: Facilitating Improved Diagnostic Reliability of Noninvasive Prenatal Diagnosis

PLoS ONE

Volumn 7, Issue 9, 2012, Pages

  White, Helen E ^a,b   Dent, Carolyn L ^a   Hall, Victoria J ^a   Crolla, John A ^a   Chitty, Lyn S ^c,d  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

TESTIS DETERMINING FACTOR;

ARTICLE; CONTROLLED STUDY; DELIVERY; DIAGNOSTIC ACCURACY; DNA DETERMINATION; DNA EXTRACTION; DNA MARKER; DNA METHYLATION; FALSE POSITIVE RESULT; FEMALE; FETUS; GENE; GENE AMPLIFICATION; GESTATIONAL AGE; HUMAN; MALE; MATERNAL PLASMA; NON INVASIVE PROCEDURE; PREGNANCY OUTCOME; PREGNANT WOMAN; PRENATAL DIAGNOSIS; RASSF1A GENE; REAL TIME POLYMERASE CHAIN REACTION; RELIABILITY; RESTRICTION MAPPING; SEX DETERMINATION;

ADOLESCENT; ADULT; CELL CYCLE PROTEINS; CELL-FREE SYSTEM; DNA; FEMALE; HUMANS; MALE; PREGNANCY; PRENATAL DIAGNOSIS; REAL-TIME POLYMERASE CHAIN REACTION; REPRODUCIBILITY OF RESULTS; SEX DETERMINATION ANALYSIS; TUMOR SUPPRESSOR PROTEINS; YOUNG ADULT;

EID: 84866386220     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0045073     Document Type: Article

References (21)

1. Mujezinovic F, Alfirevic Z, (2007) Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review. Obstet Gynecol 110: 687-694.
2. Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, et al. (1997) Presence of fetal DNA in maternal plasma and serum. Lancet 350: 485-487.
3. Alberry M, Maddocks D, Jones M, Abdel Hadi M, Abdel-Fattah S, et al. (2007) Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast. Prenat Diagn 27: 415-418.
4. Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, et al. (1998) Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 62: 768-775.
5. Lo YM, Zhang J, Leung TN, Lau TK, Chang AM, et al. (1999) Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet 64: 218-224.
6. Hill M, Finning K, Martin P, Hogg J, Meaney C, et al. (2011) Non-invasive prenatal determination of fetal sex: translating research into clinical practice. Clin Genet 80: 68-75.
7. Forest M, Morel Y, David M, (1998) Prenatal treatment of congenital adrenal hyperplasia. Trends Endocrinol Metab 9: 284-289.
8. Daniels G, Finning K, Martin P, Massey E, (2009) Noninvasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospects. Prenat Diagn 29: 101-107.
9. Chiu RWK, Lau TK, Leung TN, Chow KCK, Chui DHK, et al. (2002) Prenatal exclusion of beta thalassaemia major by examination of maternal plasma. Lancet 360: 998-1000.
10. Raymond FL, Whittaker J, Jenkins L, Lench N, Chitty LS, (2010) Molecular prenatal diagnosis: the impact of modern technologies. Prenat Diagn 30: 674-681.
11. Chitty LS, Griffin DR, Meaney C, Barrett A, Khalil A, et al. (2011) New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma. Ultrasound Obstet Gynecol 37: 283-289.
12. Chan KCA, Ding C, Gerovassili A, Yeung SW, Chiu RWK, et al. (2006) Hypermethylated RASSF1A in maternal plasma: a universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis. Clin Chem 52: 2211-2218.
13. Pertl B, Sekizawa A, Samura O, Orescovic I, Rahaim PT, et al. (2000) Detection of male and female fetal DNA in maternal plasma by multiplex fluorescent polymerase chain reaction amplification of short tandem repeats. Hum Genet 106: 45-49.
14. Page-Christiaens GCML, Bossers B, van der Schoot CE, de Haas M, (2006) Use of bi-allelic insertion/deletion polymorphisms as a positive control for fetal genotyping in maternal blood: first clinical experience. Ann N Y Acad Sci 1075: 123-129.
15. Dhallan R, Guo X, Emche S, Damewood M, Bayliss P, et al. (2007) A non-invasive test for prenatal diagnosis based on fetal DNA present in maternal blood: a preliminary study. Lancet 369: 474-481.
16. Scheffer PG, van der Schoot CE, Page-Christiaens GC, Bossers B, van Erp F, et al. (2010) Reliability of fetal sex determination using maternal plasma. Obstet Gynecol 115: 117-126.
17. Hindson BJ, Ness KD, Masquelier DA, Belgrader PI, Heredia NJ, et al. (2011) A high-throughput droplet digital PCR system for absolute quantitation of DNA copy number. Analytical Chemistry 83: 8604-8610.
18. Chitty LS, van der Schoot CE, Hahn S, Avent ND, (2008) SAFE-the Special Non-invasive Advances in Fetal and Neonatal Evaluation Network: aims and achievements. Prenat Diagn 28: 83-88.
19. Zimmermann B, El-Sheikhah A, Nicolaides K, Holzgreve W, Hahn S, (2005) Optimized real-time quantitative PCR measurement of male fetal DNA in maternal plasma. Clin Chem 51: 1598-1604.
20. Tong YK, Jin S, Chiu RW, Ding C, Chan KC, et al. (2010) Noninvasive prenatal detection of trisomy 21 by an epigenetic-genetic chromosome-dosage approach. Clin Chem 56: 90-98.
21. Mattocks CJ, Morris MA, Matthijs G, Swinnen E, Corveleyn A, et al. (2010) A standardized framework for the validation and verification of clinical molecular genetic tests. Eur J Hum Genet 18: 1276-1288.