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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
Sponsor:
Information provided by (Responsible Party):
Natera, Inc.

Study Description
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Brief Summary:
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.

Condition or disease Intervention/treatment
Chromosome 13 Aneuploidy Chromosome 18 Aneuploidy Chromosome 21 Aneuploidy Sex Chromosome Aberrations Other Microdeletions Procedure: Blood draw Procedure: Cheek swab/Saliva Sampling

Detailed Description:

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 Design
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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

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort Intervention/treatment
Women with abnormal fetus
Women carrying fetus that is identified as chromosomally abnormal by CVS/Amniocentesis
 Procedure: Blood draw
Blood is drawn at the appropriate time given their cohort inclusion.
Other Names:
  • Non-Invasive Prenatal Diagnosis
  • NIPD
Women experiencing miscarriage
Women identified as miscarrying, prior to any D&C or D&E procedure
 Procedure: Blood draw
Blood is drawn at the appropriate time given their cohort inclusion.
Other Names:
  • Non-Invasive Prenatal Diagnosis
  • NIPD
Born children
The children born from women participating in other cohorts of the study.
 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:
  • Non-Invasive Prenatal Diagnosis
  • NIPD
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.
 Procedure: Blood draw
Blood is drawn at the appropriate time given their cohort inclusion.
Other Names:
  • Non-Invasive Prenatal Diagnosis
  • NIPD

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:
  • Non-Invasive Prenatal Diagnosis
  • NIPD
Non-pregnant women
Healthy women who are not pregnant
 Procedure: Blood draw
Blood is drawn at the appropriate time given their cohort inclusion.
Other Names:
  • Non-Invasive Prenatal Diagnosis
  • NIPD
Pregnant women Procedure: Blood draw
Blood is drawn at the appropriate time given their cohort inclusion.
Other Names:
  • Non-Invasive Prenatal Diagnosis
  • NIPD


Outcome Measures
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Primary Outcome Measures :
  1. 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
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.

Eligibility Criteria
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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
Study Population
Healthy non-pregnant women, pregnant women, male relatives, women undergoing miscarriage, and children born to participating women
Criteria

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
Contacts and Locations
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Information from the National Library of Medicine

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


Locations
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United States, California
Natera, Inc
Redwood City, California, United States, 94063
Sponsors and Collaborators
Natera, Inc.
Investigators
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Principal Investigator: Matthew Rabinowitz, PhD Natera, Inc.
More Information
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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
Keywords provided by Natera, Inc.:
Down syndrome
Trisomy 13
Trisomy 18
 Microdeletions
Pregnancy
Non-invasive
Additional relevant MeSH terms:
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Aneuploidy
Chromosome Aberrations
Sex Chromosome Aberrations
Pathologic Processes