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The primary purpose of this study is to collect maternal blood samples from pregnant women to develop a non-invasive prenatal diagnostic test based on fetal DNA isolated from maternal blood.
The investigators will seek to enroll subjects to collect the following types of samples:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Women with abnormal fetus | Women carrying fetus that is identified as chromosomally abnormal by CVS/Amniocentesis |
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| Women experiencing miscarriage | Women identified as miscarrying, prior to any D&C or D&E procedure |
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| Born children | The children born from women participating in other cohorts of the study. |
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| Male relatives | The male partners (and presumed biological father of any fetuses/children) of women participating in other cohorts of the study or the biological father's brother and/or father. |
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| Non-pregnant women | Healthy women who are not pregnant |
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| Pregnant women |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Blood draw | Procedure | Blood is drawn at the appropriate time given their cohort inclusion. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Fetal chromosome abnormality from a maternal plasma sample | Maternal plasma will be drawn at the time at which they present while pregnant as long as they are at least 6 weeks along. Additional samples (for confirmation of chromosome makeup) may also be drawn on that fetus when fetal sampling is possible (termination, miscarriage) or on the child at or shortly after birth. | From date of initial blood draw until the date of pregnancy end (miscarriage/termination) or time of birth, whichever came first, assessed up to 10 months |
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Inclusion Criteria:
Exclusion Criteria:
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Healthy non-pregnant women, pregnant women, male relatives, women undergoing miscarriage, and children born to participating women
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| Name | Affiliation | Role |
|---|---|---|
| Matthew Rabinowitz, PhD | Natera, Inc. | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Natera, Inc | Redwood City | California | 94063 | United States |
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| ID | Term |
|---|---|
| D012729 | Sex Chromosome Aberrations |
| D004314 | Down Syndrome |
| D000073839 | Trisomy 13 Syndrome |
| D000073842 | Trisomy 18 Syndrome |
| ID | Term |
|---|---|
| D002869 | Chromosome Aberrations |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D008607 | Intellectual Disability |
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| ID | Term |
|---|---|
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
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Maternal blood, paternal blood or cheek swab, paternal relative blood or cheek swab, fetal blood or tissue, POC tissue, and child cord blood or saliva.
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| Cheek swab/Saliva Sampling | Procedure | In lieu of blood draw, male relatives may donate cheek swab or saliva sample. Children born to participating women can donate cheek swab or saliva sample soon after birth. |
|
|
| 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 |
| D006330 | Heart Defects, Congenital |
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |