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This study is being conducted to provide clinically annotated samples to support continued improvements in the Ariosa Test content, methodology, specimen processing and quality control.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Euploid Subjects | Subject's with fetal euploidy confirmed by chromosome analysis | ||
| Aneuploid Subjects | Subject's with fetal aneuploidy confirmed by chromosome analysis |
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| Measure | Description | Time Frame |
|---|---|---|
| Detection of aneuploidy | 24 months |
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Inclusion Criteria:
Exclusion Criteria:
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Pregnant women planning to undergo chorionic villus sampling (CVS) and/or amniocentesis for the purpose of genetic evaluation of the fetus.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University California San Diego | San Diego | California | United States | |||
| Women's Healthcare Group of PA |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 22742782 | Background | Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB, Rodriguez MH, Williams J 3rd, Mitchell ME, Adair CD, Lee H, Jacobsson B, Tomlinson MW, Oepkes D, Hollemon D, Sparks AB, Oliphant A, Song K. 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 Aug;207(2):137.e1-8. doi: 10.1016/j.ajog.2012.05.021. Epub 2012 Jun 1. |
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| ID | Term |
|---|---|
| D000782 | Aneuploidy |
| D004314 | Down Syndrome |
| D000073842 | Trisomy 18 Syndrome |
| D000073839 | Trisomy 13 Syndrome |
| D014314 | Trisomy |
| D025063 | Chromosome Disorders |
| ID | Term |
|---|---|
| D002869 | Chromosome Aberrations |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D008607 | Intellectual Disability |
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Plasma
| Oaks |
| Pennsylvania |
| 19456 |
| United States |
| Regional Obestrical Consultants | Chattanooga | Tennessee | 37403 | United States |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D006330 | Heart Defects, Congenital |
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
| D058674 | Chromosome Duplication |