Perspective study of non-invasive prenatal testing using cell-free fetal DNA in high-risk population

National Medical Journal of China

Volumn 95, Issue 11, 2015, Pages 849-852

  Ma, Jingmei ^a   Pan, Hong ^a   Fu, Jie ^a   Yu, Li ^a   Yang, Huixia ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

Amniocentesis; Non invasive prenatal testing; Prenatal diagnosis; Prenatal screening

Indexed keywords

ANEUPLOIDY; ARTICLE; CELL FREE SYSTEM; CHINA; CLINICAL TRIAL (TOPIC); DNA DETERMINATION; GESTATIONAL AGE; HIGH RISK PREGNANCY; HUMAN; KARYOTYPE; MAJOR CLINICAL STUDY; MATERNAL AGE; MEDICAL RECORD REVIEW; NON INVASIVE MEASUREMENT; NON INVASIVE PRENATAL TESTING; PRENATAL DIAGNOSIS; PROSPECTIVE STUDY; TRISOMY 13; TRISOMY 18; VALIDATION STUDY; CHROMOSOME 13; CHROMOSOME DISORDER; DOWN SYNDROME; FEMALE; FETUS; KARYOTYPING; PREGNANCY; RISK FACTOR; TRISOMY;

DNA;

ANEUPLOIDY; CELL-FREE SYSTEM; CHINA; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; DNA; DOWN SYNDROME; FEMALE; FETUS; GESTATIONAL AGE; HUMANS; KARYOTYPING; MATERNAL AGE; PREGNANCY; PRENATAL DIAGNOSIS; PROSPECTIVE STUDIES; RISK FACTORS; TRISOMY;

EID: 84940521118     PISSN: 03762491     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.0376-2491.2015.11.012     Document Type: Article

References (16)

1. American College of Obstetricians and Gynecologists. ACOC Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy [J]. Obstel Gynecol, 2007, 110 (6): 1459-1467.
2. Deborah A, Driscoll, Susan Gross, Prenatal screening for aneuploidy [J]. N Engl J Med, 2009, 360(24): 2556-2562.
3. Chiu RW, Chan KC, Gao Y, et al., Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma [J]. Proc Natl Acad Sci USA, 2008, 105: 20458-20463.
4. Agarwal A, Savres LC, Cho M.K., et al. Commercial landscape of noninvasive prenatal testing in the United States [J]. Prenat Diagn, 2013, 33(6): 521-531.
5. Norton ME, Brar H, Weiss J., et al. Non-Invasive Chromosomal Evaluation (NICE) study: results of a multicenter, prospective, Cohort study for detection of fetal trisomy 21 and trisomy 18 [J]. Am J Obstet Gynecol, 2012, 207(2): 137. e1-8.
6. Hui L, Teoh M, da Silva Costa F, et al. Clinical implementation of cell-free DNA-based aneuploidy screening: perspectives from a national audit [J]. Ultrasound Obstet Gynecol, 2015, 45 (1): 10-15.
7. Gregg AH, Gross SJ, Best R.G., et al, ACMC Statement on noninasive prenatal screening for fetal aneuploidv [J]. Genet Med, 2013. 15(5): 395-398.
8. Salomon LJ, Alfirevic Z, Audibert K., et al. ISUOC consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice [J]. Ultrasound Obstet Gynecol, 2014, 44(1): 122-123.
9. American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy [J]. Obstet Gynecol, 2012, 120 (6): 1532-1534.
10. Nicolaides KH, Syngelaki A, Ashoor G., et al. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population [J]. Am J Obstet Gynecol, 2012, 207(5): 371-376.
11. Song YJ, Liu CC, Qi H, et al Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective chinese population [J]. Prenat Diagn, 2013, 33(7): 700-706.
12. Nicolaides KH, Syngelaki A, Gil M., et al. Validation of targeted sequencing ol single-nucleotide polymorphism for non-invasive prenatal detection of aneuploidv of chromosomes 13, 18, 21, X and Y [J]. Prenat Diag, 2013, 33 (6): 575-579.
13. Bianchi DW, Parker KU DNA Sequencing versus Standard Prenatal Aneuploidy Screening [J]. N Engl J Med, 2014, 370 (9): 799-808.
14. Nicolaides KH, Wright D, Poon L.C., et al. First-trimester contingent screening lor trisomv 21 by biomarkers and maternal blood cell-free DNA testing [J]. Ultrasound Obstet Gynecol, 2013, 42 (1): 41-50.
15. Bianchi DW, Wilkins-Haug L. Integration of noninvasive DNA testing lor aneuploidy into prenatal care: what has happened Since the rubber met the road?. [J]. Clin Chem.2014, 60 (1): 78-87.
16. Song K, Musci TJ, Caughey AB Clinical utility and cost of noninvasive prenatal testing with efDNA analysis in high risk women based on a US population [J], J Matern Fetal Neonatal Med, 2013, 26(12): 1180-1185.