Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
18955 participants
OBSERVATIONAL
2012-03-31
2014-05-31
Brief Summary
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The performance characteristics of these two test modalities will be assessed relative to the clinical reference standard of genetic analysis of the fetus or phenotypic characterization and genetic analysis of the newborn.
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Detailed Description
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Conditions
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Study Design
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PROSPECTIVE
Study Groups
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Case
Patient with a trisomy 21 pregnancy confirmed by genetic testing.
No interventions assigned to this group
Control
Patients without a trisomy 21 pregnancy confirmed by either genetic testing or a normal newborn phenotype.
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
2. Subject is planning a hospital delivery.
3. Subject has a singleton pregnancy with a documented gestational age between 10 weeks, 0 days, and 14 weeks, 2 days, inclusive, at the time of the study blood sample collection.
4. Subject is planning to undergo combined first trimester prenatal screening that includes NT measurement, and when indicated, serum screening with total or free β-hCG and PAPP-A.
Exclusion Criteria
2. Subject has active or history of malignancy requiring major surgery and/or systemic chemotherapy.
3. Subject has a twin demise at any gestational age. Twin demise includes any reductions, spontaneous or elective, after sonographic identification of a second (or more) gestational sac. Any clinical, sonographic, or other testing that suggests twin demise would serve as an exclusion criterion.
18 Years
60 Years
FEMALE
No
Sponsors
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Perinatal Quality Foundation: Nuchal Translucency Quality Review
UNKNOWN
Roche Sequencing Solutions
INDUSTRY
Responsible Party
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Principal Investigators
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Mary E. Norton, MD
Role: PRINCIPAL_INVESTIGATOR
Stanford University
Ronald Wapner, MD
Role: PRINCIPAL_INVESTIGATOR
Columbia University
Locations
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Tucson Medical Center
Tucson, Arizona, United States
East Bay Perinatal Associates
Oakland, California, United States
Stanford University
Palo Alto, California, United States
Perinatal Diagnostic Center
Riverside, California, United States
University of California San Diego
San Diego, California, United States
California Pacific Medical Center
San Francisco, California, United States
University of California San Francisco
San Francisco, California, United States
The Institute of Prenatal Diagnosis and Reproductive Medicine
San Gabriel, California, United States
Christiana Care Health System
Newark, Delaware, United States
Altus Research
Lake Worth, Florida, United States
Fetal Diagnostic Institute of the Pacific
Honolulu, Hawaii, United States
Northshore University Health System
Evanston, Illinois, United States
Norton Healthcare
Louisville, Kentucky, United States
Brigham and Women's Hospital - Center for Fetal Medicine and Prenatal Genetics
Boston, Massachusetts, United States
Minnesota Perinatal Associates
Minneapolis, Minnesota, United States
Robert Wood Johnson School of Medicine
New Brunswick, New Jersey, United States
St. Peters University Medical Center
New Brunswick, New Jersey, United States
Columbia University
New York, New York, United States
Duke University Medical Center
Durham, North Carolina, United States
Northwest Perinatal Center
Portland, Oregon, United States
Oregon Health Sciences University
Portland, Oregon, United States
Abington Memorial Hospital
Abington, Pennsylvania, United States
Thomas Jefferson Univeristy Hospital
Philadelphia, Pennsylvania, United States
Women's Health Care Group of Pennsylvania
Wynnewood, Pennsylvania, United States
Partners in Obstetrics and Gynecology
Pawtucket, Rhode Island, United States
Medical College of Wisconsin
Milwaukee, Wisconsin, United States
University Hospitals Leuven
Leuven, , Belgium
Early Risk Assessment Program - University of Alberta
Calgary, Alberta, Canada
Ottawa Hospital and Research Institute
Ottawa, Ontario, Canada
Mount Sinai University
Toronto, Ontario, Canada
University of Toronto
Toronto, Ontario, Canada
University of Perugia
Perugia, , Italy
Leiden University Medical Center
Leiden, , Netherlands
Maastricht University Medical Center
Maastricht, , Netherlands
Sahlgrenska University Medical Center
Gothenburg, , Sweden
Karolinska University Hospital
Stockholm, , Sweden
Countries
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References
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American College of Obstetricians and Gynecologists. Guidelines for Perinatal Care, Sixth Edition, October 2007.
Nicolaides KH. A model for a new pyramid of prenatal care based on the 11 to 13 weeks' assessment. Prenat Diagn. 2011 Jan;31(1):3-6. doi: 10.1002/pd.2685. No abstract available.
Malone FD, Canick JA, Ball RH, Nyberg DA, Comstock CH, Bukowski R, Berkowitz RL, Gross SJ, Dugoff L, Craigo SD, Timor-Tritsch IE, Carr SR, Wolfe HM, Dukes K, Bianchi DW, Rudnicka AR, Hackshaw AK, Lambert-Messerlian G, Wald NJ, D'Alton ME; First- and Second-Trimester Evaluation of Risk (FASTER) Research Consortium. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med. 2005 Nov 10;353(19):2001-11. doi: 10.1056/NEJMoa043693.
Nicolaides KH, Spencer K, Avgidou K, Faiola S, Falcon O. Multicenter study of first-trimester screening for trisomy 21 in 75 821 pregnancies: results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening. Ultrasound Obstet Gynecol. 2005 Mar;25(3):221-6. doi: 10.1002/uog.1860.
Cicero S, Rembouskos G, Vandecruys H, Hogg M, Nicolaides KH. Likelihood ratio for trisomy 21 in fetuses with absent nasal bone at the 11-14-week scan. Ultrasound Obstet Gynecol. 2004 Mar;23(3):218-23. doi: 10.1002/uog.992.
Borrell A. The ductus venosus in early pregnancy and congenital anomalies. Prenat Diagn. 2004 Sep;24(9):688-92. doi: 10.1002/pd.958.
Faiola S, Tsoi E, Huggon IC, Allan LD, Nicolaides KH. Likelihood ratio for trisomy 21 in fetuses with tricuspid regurgitation at the 11 to 13 + 6-week scan. Ultrasound Obstet Gynecol. 2005 Jul;26(1):22-7. doi: 10.1002/uog.1922.
Sonek J, Borenstein M, Dagklis T, Persico N, Nicolaides KH. Frontomaxillary facial angle in fetuses with trisomy 21 at 11-13(6) weeks. Am J Obstet Gynecol. 2007 Mar;196(3):271.e1-4. doi: 10.1016/j.ajog.2006.10.891.
ACOG Committee on Practice Bulletins. ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007 Jan;109(1):217-27. doi: 10.1097/00006250-200701000-00054.
American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol. 2007 Dec;110(6):1459-67. doi: 10.1097/01.AOG.0000291570.63450.44.
Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, Lu V, McCullough R, McCarthy E, Nygren AO, Dean J, Tang L, Hutchison D, Lu T, Wang H, Angkachatchai V, Oeth P, Cantor CR, Bombard A, van den Boom D. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol. 2011 Mar;204(3):205.e1-11. doi: 10.1016/j.ajog.2010.12.060. Epub 2011 Feb 18.
Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, Wainscoat JS. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997 Aug 16;350(9076):485-7. doi: 10.1016/S0140-6736(97)02174-0.
Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A. 2008 Oct 21;105(42):16266-71. doi: 10.1073/pnas.0808319105. Epub 2008 Oct 6.
Chiu RW, Chan KC, Gao Y, Lau VY, Zheng W, Leung TY, Foo CH, Xie B, Tsui NB, Lun FM, Zee BC, Lau TK, Cantor CR, Lo YM. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci U S A. 2008 Dec 23;105(51):20458-63. doi: 10.1073/pnas.0810641105. Epub 2008 Dec 10.
Chiu RW, Sun H, Akolekar R, Clouser C, Lee C, McKernan K, Zhou D, Nicolaides KH, Lo YM. Maternal plasma DNA analysis with massively parallel sequencing by ligation for noninvasive prenatal diagnosis of trisomy 21. Clin Chem. 2010 Mar;56(3):459-63. doi: 10.1373/clinchem.2009.136507. Epub 2009 Dec 21.
Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Deciu C, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011 Nov;13(11):913-20. doi: 10.1097/GIM.0b013e3182368a0e.
Dhallan R, Guo X, Emche S, Damewood M, Bayliss P, Cronin M, Barry J, Betz J, Franz K, Gold K, Vallecillo B, Varney J. A non-invasive test for prenatal diagnosis based on fetal DNA present in maternal blood: a preliminary study. Lancet. 2007 Feb 10;369(9560):474-81. doi: 10.1016/S0140-6736(07)60115-9.
Tong YK, Jin S, Chiu RW, Ding C, Chan KC, Leung TY, Yu L, Lau TK, Lo YM. Noninvasive prenatal detection of trisomy 21 by an epigenetic-genetic chromosome-dosage approach. Clin Chem. 2010 Jan;56(1):90-8. doi: 10.1373/clinchem.2009.134114. Epub 2009 Oct 22.
Ghanta S, Mitchell ME, Ames M, Hidestrand M, Simpson P, Goetsch M, Thilly WG, Struble CA, Tomita-Mitchell A. Non-invasive prenatal detection of trisomy 21 using tandem single nucleotide polymorphisms. PLoS One. 2010 Oct 8;5(10):e13184. doi: 10.1371/journal.pone.0013184.
Norton ME, Jacobsson B, Swamy GK, Laurent LC, Ranzini AC, Brar H, Tomlinson MW, Pereira L, Spitz JL, Hollemon D, Cuckle H, Musci TJ, Wapner RJ. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med. 2015 Apr 23;372(17):1589-97. doi: 10.1056/NEJMoa1407349. Epub 2015 Apr 1.
Related Links
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Click here for more information about Ariosa Diagnostics
Other Identifiers
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TD007
Identifier Type: -
Identifier Source: org_study_id
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