Non-invasive Prenatal Diagnostic Validation Study (NIPD)

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Natera, Inc.
ClinicalTrials.gov Identifier:
NCT01574781
First received: April 2, 2012
Last updated: June 28, 2013
Last verified: June 2013
  Purpose

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

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Development of Non-invasive Prenatal Diagnostic Test Based on Fetal DNA Isolated From Maternal Blood

Resource links provided by NLM:


Further study details as provided by Natera, Inc.:

Primary Outcome Measures:
  • 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 ] [ Designated as safety issue: No ]
    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.


Enrollment: 1781
Study Start Date: September 2011
Study Completion Date: April 2013
Primary Completion Date: April 2013 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
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

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).
  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
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
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01574781

Locations
United States, California
Natera, Inc
Redwood City, California, United States, 94063
Sponsors and Collaborators
Natera, Inc.
Investigators
Principal Investigator: Matthew Rabinowitz, PhD Natera, Inc.
  More Information

No publications provided

Responsible Party: Natera, Inc.
ClinicalTrials.gov Identifier: NCT01574781     History of Changes
Other Study ID Numbers: GSN012
Study First Received: April 2, 2012
Last Updated: June 28, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by Natera, Inc.:
Down syndrome
Trisomy 13
Trisomy 18
Microdeletions
Pregnancy
Non-invasive

Additional relevant MeSH terms:
Aneuploidy
Chromosome Aberrations
Chromosome Disorders
Sex Chromosome Aberrations
Pathologic Processes
Congenital Abnormalities
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on July 31, 2014