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Whole blood samples will be collected from high-risk pregnant women to validate the clinical performance of the SEQureDx Trisomy 21 Test.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| High risk pregnant subjects undergoing an invasive procedure | Women with one or more high risk factors for fetal chromosome 21 aneuploidy scheduled to undergo an invasive procedure for fetal karyotype determination. | ||
| High risk subjects electing not to undergo invasive procedure | Women with one or more high risk factors for fetal chromosome 21 aneuploidy who elect not to undergo an invasive procedure for fetal karyotype determination. |
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| Measure | Description | Time Frame |
|---|---|---|
| Clinical Assay Performance | Each subject will provide a single blood sample prior to undergoing an amniocentesis/CVS that will be processed to plasma and stored frozen until the end of the study. Frozen plasma samples will then be analyzed using the SEQureDx Trisomy Test and the sensitivity and specificity of the assay will be determined by comparing the plasma test results to the fetal karyotyping results obtained via aminiocentesis or CVS. A subject's participation ends after the results of the fetal karyotype are obtained and recorded. | Performance of the assay will be based upon a single blood sample collected during the only study visit from a high risk pregnancy prior to the subject undergoing an invasive procedure (amniocentesis or CVS) to confirm fetal karyotype. |
| Measure | Description | Time Frame |
|---|---|---|
| Subject selection bias assessment | All subjects that enter the study are at high risk for fetal aneuploidy. However, sensitivity and specificity of the assay will be based upon those subjects that have a confirmed fetal karyotype obtained by amniocentesis/CVS. Subject selection bias assessment will be done by comparing SEQureDx Trisomy T21 Test results between women who agree to undergo an invasive procedure to obtain fetal karyotype and women who elect not to undergo an invasive procedure. |
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Inclusion Criteria:
Exclusion Criteria:
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Pregnant women between 10 and 22 weeks of gestation inclusive who have one or more high risk indicators for fetal chromosome 21 aneuploidy.
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| Name | Affiliation | Role |
|---|---|---|
| Juan-Sebastian Saldivar, MD | Sequenom Laboratories | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of South Alabama | Mobile | Alabama | 36604-3302 | United States | ||
| Visions Clinical Research Tuscon |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 22281937 | Background | Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med. 2012 Mar;14(3):296-305. doi: 10.1038/gim.2011.73. Epub 2012 Feb 2. | |
| 22005709 |
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Whole blood specimens will be collected and processed to plasma. DNA will be extracted from the plasma.
| A single blood sample will be collected at a single clinic visit from high risk pregnancies that refuse to undergo an invasive procedure. |
| Tucson |
| Arizona |
| 85712 |
| United States |
| Obstetrix Medical Group of California | Campbell | California | 95008 | United States |
| Long Beach Memorial Medical Center | Long Beach | California | 90806 | United States |
| Cedars-Sinai Medical Center | Los Angeles | California | 90048 | United States |
| San Gabriel Valley Perinatal Medical Center | Monterey Park | California | 91754 | United States |
| Scripps Clinic Carmel Valley | San Diego | California | 92130 | United States |
| South Florida Perinatal | Miami | Florida | 33175 | United States |
| Southeast Perinatal Associates - Miramar | Miramar | Florida | 33029 | United States |
| Southeast Perinatal Associates - Weston | Sunrise | Florida | 33323 | United States |
| Hawaii Pacific Health | Honolulu | Hawaii | 96813 | United States |
| University of Iowa Health Care | Iowa City | Iowa | 52242 | United States |
| University of Kansas Medical Center | Kansas City | Kansas | 66160 | United States |
| Norton Healthcare | Louisville | Kentucky | 40207 | United States |
| Willis-Knighton Physician Network | Shreveport | Louisiana | 71118 | United States |
| University of Maryland | Baltimore | Maryland | 21201 | United States |
| William Beaumont Hospital | Royal Oak | Michigan | 48073 | United States |
| Saint Lukes Hospital of Kansas City | Kansas City | Missouri | 64111 | United States |
| Jersey Shore University Medical Center | Neptune City | New Jersey | 07753 | United States |
| Saint Peter's Hospital | New Brunswick | New Jersey | 08901 | United States |
| Virtua Health | Sewell | New Jersey | 08080 | United States |
| Virtua Health | Voorhees Township | New Jersey | 08043 | United States |
| University of Cincinnati | Cincinnati | Ohio | 45267 | United States |
| Complete Healthcare for Women | Columbus | Ohio | 43231 | United States |
| University of Oklahoma Health Sciences Center | Oklahoma City | Oklahoma | 73104 | United States |
| Regional Obstetrical Consultants | Chatanooga | Tennessee | 37403 | United States |
| Obstetrix Medical Group of Washington, Inc. | Seattle | Washington | 98104 | United States |
| North York General Hospital | Toronto | Ontario | Canada |
| Chuq/Chul | Québec | Quebec | G1V 4G2 | Canada |
| 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. |
| 21310373 | Background | 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. |
| ID | Term |
|---|---|
| D004314 | Down Syndrome |
| D014314 | Trisomy |
| ID | Term |
|---|---|
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D000782 | Aneuploidy |
| D002869 | Chromosome Aberrations |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D058674 | Chromosome Duplication |
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