Non-invasive Prenatal Diagnostic Validation Study (NIPD)
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ClinicalTrials.gov Identifier: NCT01574781 |
Recruitment Status :
Completed
First Posted : April 10, 2012
Last Update Posted : July 2, 2013
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Condition or disease | Intervention/treatment |
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Chromosome 13 Aneuploidy Chromosome 18 Aneuploidy Chromosome 21 Aneuploidy Sex Chromosome Aberrations Other Microdeletions | Procedure: Blood draw Procedure: Cheek swab/Saliva Sampling |
The investigators will seek to enroll subjects to collect the following types of samples:
- Up to 2,000 maternal blood samples along with their corresponding paternal blood, buccal or saliva samples (1,000 required for final analysis).
- Up to 200 maternal blood samples from carrying a fetus with a confirmed chromosomal abnormality or genetic disorder, along with their corresponding paternal blood, buccal or saliva samples (50 required for final analysis). For women who opted for termination, a genetic sample of the fetus may also be collected.
- Up to 1,000 buccal or saliva samples from paternal grandfathers and/or the biological father's brothers.
- Up to 1,000 cord, buccal or saliva samples from the born children.
- Up to 40 blood samples (20 non-pregnant females and 20 males) from healthy volunteers (20 required for final analysis)
- Up to 400 blood samples from women undergoing D&C procedure following a miscarriage along with corresponding paternal blood (or buccal or saliva samples) (200 required for final analysis).
Study Type : | Observational |
Actual Enrollment : | 1781 participants |
Time Perspective: | Prospective |
Official Title: | Development of Non-invasive Prenatal Diagnostic Test Based on Fetal DNA Isolated From Maternal Blood |
Study Start Date : | September 2011 |
Actual Primary Completion Date : | April 2013 |
Actual Study Completion Date : | April 2013 |

Group/Cohort | Intervention/treatment |
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Women with abnormal fetus
Women carrying fetus that is identified as chromosomally abnormal by CVS/Amniocentesis
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Procedure: Blood draw
Blood is drawn at the appropriate time given their cohort inclusion.
Other Names:
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Women experiencing miscarriage
Women identified as miscarrying, prior to any D&C or D&E procedure
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Procedure: Blood draw
Blood is drawn at the appropriate time given their cohort inclusion.
Other Names:
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Born children
The children born from women participating in other cohorts of the study.
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Procedure: Cheek swab/Saliva Sampling
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.
Other Names:
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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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Procedure: Blood draw
Blood is drawn at the appropriate time given their cohort inclusion.
Other Names:
Procedure: Cheek swab/Saliva Sampling 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.
Other Names:
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Non-pregnant women
Healthy women who are not pregnant
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Procedure: Blood draw
Blood is drawn at the appropriate time given their cohort inclusion.
Other Names:
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Pregnant women |
Procedure: Blood draw
Blood is drawn at the appropriate time given their cohort inclusion.
Other Names:
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- Fetal chromosome abnormality from a maternal plasma sample [ Time Frame: 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 ]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.
Biospecimen Retention: Samples With DNA

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | 18 Years and older (Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
- Pregnant women who volunteer to donate blood sample during the first -, second- and/or third trimester
- The biological father of the child (or the father's brother and/or father) has to be at least 18 years of age and consent to his blood, buccal, or saliva collection.
- Pregnant women whose fetus was diagnosed with a chromosomal abnormality or genetic disorder by either amniocentesis or chorionic villus sampling who volunteer to donate a blood sample.
- Pregnant women who volunteer to donate a blood sample after their spontaneous miscarriage prior to undergoing D&C procedure and who choose to utilize Natera's commercial products of conception molecular karyotyping service.
- Healthy volunteers (non-pregnant female and male) who volunteer to donate their blood sample.
- Umbilical cord blood or cheek swab/saliva samples from born children o Pregnant women who have participated in donating a blood sample during their pregnancy have the option to donate either an umbilical cord blood sample after child delivery, or a cheek swab or saliva sample from the born child using Natera's home kit.
Exclusion Criteria:
- Women carrying multiples

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01574781
United States, California | |
Natera, Inc | |
Redwood City, California, United States, 94063 |
Principal Investigator: | Matthew Rabinowitz, PhD | Natera, Inc. |
Responsible Party: | Natera, Inc. |
ClinicalTrials.gov Identifier: | NCT01574781 |
Other Study ID Numbers: |
GSN012 |
First Posted: | April 10, 2012 Key Record Dates |
Last Update Posted: | July 2, 2013 |
Last Verified: | June 2013 |
Down syndrome Trisomy 13 Trisomy 18 |
Microdeletions Pregnancy Non-invasive |
Aneuploidy Chromosome Aberrations Sex Chromosome Aberrations Pathologic Processes |