Non-invasive Prenatal Diagnostic Validation Study (NIPD)

June 28, 2013 updated by: Natera, Inc.

Development of Non-invasive Prenatal Diagnostic Test Based on Fetal DNA Isolated From Maternal Blood

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Actual)

1781

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • California
      • Redwood City, California, United States, 94063
        • Natera, Inc

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Healthy non-pregnant women, pregnant women, male relatives, women undergoing miscarriage, and children born to participating women

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Pregnant women
Procedure: Blood draw
Blood is drawn at the appropriate time given their cohort inclusion.
Other Names:
  • NIPD
  • Non-Invasive Prenatal Diagnosis
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:
  • NIPD
  • Non-Invasive Prenatal Diagnosis
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:
  • NIPD
  • Non-Invasive Prenatal Diagnosis
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:
  • NIPD
  • Non-Invasive Prenatal Diagnosis
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:
  • NIPD
  • Non-Invasive Prenatal Diagnosis
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:
  • NIPD
  • Non-Invasive Prenatal Diagnosis
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:
  • NIPD
  • Non-Invasive Prenatal Diagnosis

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Natera, Inc.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

September 1, 2011

Primary Completion (Actual)

April 1, 2013

Study Completion (Actual)

April 1, 2013

Study Registration Dates

First Submitted

April 2, 2012

First Submitted That Met QC Criteria

April 9, 2012

First Posted (Estimate)

April 10, 2012

Study Record Updates

Last Update Posted (Estimate)

July 2, 2013

Last Update Submitted That Met QC Criteria

June 28, 2013

Last Verified

June 1, 2013

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • GSN012

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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