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To collect samples for the purpose of developing and optimizing an in vitro noninvasive prenatal diagnostic (NIPD) test. The NIPD test employs circulating cell free (ccff) DNA extracted from whole blood samples collected from women who are pregnant with a fetus previously determined to have a chromosomal abnormality. The NIPD result will be compared to the standard test results obtained from other test methods such as karyotype, FISH, QF-PCR, and/or any commercially available NIPD test.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Pregnant Women | Pregnant women who have been definitively diagnosed as carrying a fetus with aneuploidy. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Maternal blood draw of 30 to 50ml | Other | Maternal blood draw of 30 to 50mls during pregnancy. Blood may be drawn up to 5 times during the pregnancy between weeks 8 and 36 gestation. |
| Measure | Description | Time Frame |
|---|---|---|
| NIPD result compared to standard test results | Result of NIPD test will be compared to the standard test results obtained by karyotype, FISH, QF-PCR, and/or commerical NIPD result. | baseline |
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Inclusion Criteria:
Exclusion Criteria:
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Pregnant women who have been definitively diagnosed by amniocentesis, CVS or QF/PCR as carrying a fetus with aneuploidy
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| Name | Affiliation | Role |
|---|---|---|
| Juan-Sebastian Saldivar, M.D. | Sequenom, Inc. | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Perinatal Care Associates | Phoenix | Arizona | 85013 | United States | ||
| St. Joseph's Hospital and medical Center |
Samples and data are used in research and development of a noninvasive prenatal test. However, sample data used in publications will be shared as per requirements of the journal.
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Plasma, white blood cells
| Phoenix |
| Arizona |
| 85013 |
| United States |
| Sharp Grossmount | San Diego | California | 91944 | United States |
| IGO | San Diego | California | 92121 | United States |
| San Diego Perinatal Center | San Diego | California | 92123 | United States |
| Women's Healthcare at Frost Street | San Diego | California | 92123 | United States |
| Reiter, Hill, Johnson and Nevin | Washington D.C. | District of Columbia | 20036 | United States |
| Fetal Diagnostic Institute of the Pacific | Honolulu | Hawaii | 96814 | United States |
| Spectrum Health | Grand Rapids | Michigan | 49503 | United States |
| Women and Infants Hospital of Rhode Island | Providence | Rhode Island | 02902-2499 | United States |
| ID | Term |
|---|---|
| D004314 | Down Syndrome |
| D000782 | Aneuploidy |
| 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 |
| D002869 | Chromosome Aberrations |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D058674 | Chromosome Duplication |
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