The utilization of circulating cell-free fetal DNA testing and decrease in invasive diagnostic procedures: An institutional experience

Journal of Perinatology

Volumn 34, Issue 10, 2014, Pages 750-753

  Pettit, K E ^a   Hull, A D ^a   Korty, L ^a   Jones, M C ^a   Pretorius, D H ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADULT; ANEUPLOIDY; ARTICLE; CELL FREE SYSTEM; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC TEST; HIGH RISK PATIENT; HUMAN; INVASIVE PROCEDURE; MAJOR CLINICAL STUDY; RETROSPECTIVE STUDY; AMNIOCENTESIS; BLOOD; DOWN SYNDROME; FEMALE; GENETIC SCREENING; GENETICS; MALE; MATERNAL AGE; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES; SENSITIVITY AND SPECIFICITY; STATISTICS AND NUMERICAL DATA; UNIVERSITY HOSPITAL;

ACADEMIC MEDICAL CENTERS; ADULT; AMNIOCENTESIS; ANEUPLOIDY; CELL-FREE SYSTEM; COHORT STUDIES; DNA; DOWN SYNDROME; FEMALE; GENETIC TESTING; HUMANS; MALE; MATERNAL AGE; PREGNANCY; PRENATAL DIAGNOSIS; RETROSPECTIVE STUDIES; SENSITIVITY AND SPECIFICITY;

EID: 84927176931     PISSN: 07438346     EISSN: 14765543     Source Type: Journal    
DOI: 10.1038/jp.2014.102     Document Type: Article

References (23)

1. Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997; 350(9076): 485-487.
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 validity study. BMJ 2011; 342: c7401.
3. Ehrich M, Deciu C, Zwiefelhofer 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(3): 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(11): 913-920.
5. Sparks AB, Wang ET, Struble CA, Barrett W, Stokowski R, McBride C et al. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn 2012; 32(1): 3-9.
6. Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012; 207(2): 137.e1-e8.
7. Nicolaides KH, Syngelaki A, Gil M, Atanasova V, Markova D. 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): 575-579.
8. American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol 2012; 120(6): 1532-1534.
9. American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol 2007; 110(6): 1459-1467.
10. Eddleman KA, Malone FD, Sullivan L, Dukes K, Berkowitz RL, Kharbutli Y et al. Pregnancy loss rates after midtrimester amniocentesis. Obstet Gynecol 2006; 108 (5): 1067-1072.
11. Zaretsky M, Hickman A, McIntire D. The impact on maternal fetal medicine practice procedures after implementation of non-invasive aneuploidy screening by circulating cell-free DNA analysis. Am J Obstet Gynecol 2013; 208(1): S253.
12. Chetty S, Garabedian MJ, Norton ME. Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening. Prenat Diagn 2013; 33 (6): 542-546.
13. Bombard AT. Circulating Cell-Free Nucleic Acid Technology: Noninvasive Prenatal Testing for Fetal Aneuploidies. The NIPT Consortium Meeting: Yokohama, Japan, 2013.
14. Gil MM, Quezada MS, Bregant B, Ferraro M, Nicolaides KH. Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound Obstet Gynecol 2013; 42(1): 34-40.
15. Nicolaides KH, Wright D, Poon LC, Syngelaki A, Gil MM. First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing. Ultrasound Obstet Gynecol 2013; 42(1): 41-50.
16. Benacerraf BR, Harlow B, Frigoletto FD Jr. Are choroid plexus cysts an indication for second-trimester amniocentesis? Am J Obstet Gynecol 1990; 162(4): 1001-1006.
17. Dagklis T, Plasencia W, Maiz N, Duarte L, Nicolaides KH. Choroid plexus cyst, intracardiac echogenic focus, hyperechogenic bowel and hydronephrosis in screening for trisomy 21 at 11 + 0 to 13 + 6 weeks. Ultrasound Obstet Gynecol 2008; 31(2): 132-135.
18. Agathokleous M, Chaveeva P, Poon LC, Kosinski P, Nicolaides KH. Meta-analysis of second-trimester markers for trisomy 21. Ultrasound Obstet Gynecol 2013; 41(3): 247-261.
19. Kaijomaa M, Ulander VM, Ryynanen M, Stefanovic V. The significance of the second trimester sonographic soft markers in pregnancies after normal first trimester screening. Prenat Diagn 2013; 33(8): 804-806.
20. Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012; 367(23): 2175-2184.
21. Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med 2012; 14(3): 296-305.
22. Ashoor G, Syngelaki A, Poon LC, Rezende JC, Nicolaides KH. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol 2013; 41(1): 26-32.
23. Poon LC, Musci T, Song K, Syngelaki A, Nicolaides KH. Maternal Plasma Cell-Free Fetal and Maternal DNA at 11-13 Weeks' Gestation: Relation to Fetal and Maternal Characteristics and Pregnancy Outcomes. Fetal Diagn Ther 2013; 33(4): 215-223.