NCT01052688

Brief Summary

To collect samples for the purpose of developing and optimizing an in vitro noninvasive prenatal diagnostic (NIPD) test. The NIPD test employs circulating cell free (ccff) DNA extracted from whole blood samples collected from women who are pregnant with a fetus previously determined to have a chromosomal abnormality. The NIPD result will be compared to the standard test results obtained from other test methods such as karyotype, FISH, QF-PCR, and/or any commercially available NIPD test.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
150

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Nov 2009

Longer than P75 for all trials

Geographic Reach
1 country

10 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

November 1, 2009

Completed
3 months until next milestone

First Submitted

Initial submission to the registry

January 15, 2010

Completed
5 days until next milestone

First Posted

Study publicly available on registry

January 20, 2010

Completed
11.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

August 31, 2021

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

August 31, 2021

Completed
Last Updated

September 20, 2021

Status Verified

April 1, 2020

Enrollment Period

11.8 years

First QC Date

January 15, 2010

Last Update Submit

September 16, 2021

Conditions

Keywords

Down syndrome, aneuploidy, amniocentesis, chorionic villus sampling, Trisomy

Outcome Measures

Primary Outcomes (1)

  • NIPD result compared to standard test results

    Result of NIPD test will be compared to the standard test results obtained by karyotype, FISH, QF-PCR, and/or commerical NIPD result.

    baseline

Study Arms (1)

Pregnant Women

Pregnant women who have been definitively diagnosed as carrying a fetus with aneuploidy.

Other: Maternal blood draw of 30 to 50ml

Interventions

Maternal blood draw of 30 to 50mls during pregnancy. Blood may be drawn up to 5 times during the pregnancy between weeks 8 and 36 gestation.

Pregnant Women

Eligibility Criteria

Sexfemale
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Pregnant women who have been definitively diagnosed by amniocentesis, CVS or QF/PCR as carrying a fetus with aneuploidy

You may qualify if:

  • Subject is female
  • Subject is 18 years or older
  • Subject is no less than 8 and no more than 36 weeks gestation
  • Subject provides a signed and dated informed consent
  • Subject agrees to provide one or more 30-50mL blood sample(s) in accordance with the protocol
  • Subject has a current pregnancy in which the fetus is known to have chromosomal aneuploidy (e.g. T13, T18, T21)

You may not qualify if:

  • Non-singleton pregnancy in which only one fetus is known to have a chromosomal aneuploidy

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (10)

Perinatal Care Associates

Phoenix, Arizona, 85013, United States

Location

St. Joseph's Hospital and medical Center

Phoenix, Arizona, 85013, United States

Location

Sharp Grossmount

San Diego, California, 91944, United States

Location

IGO

San Diego, California, 92121, United States

Location

San Diego Perinatal Center

San Diego, California, 92123, United States

Location

Women's Healthcare at Frost Street

San Diego, California, 92123, United States

Location

Reiter, Hill, Johnson and Nevin

Washington D.C., District of Columbia, 20036, United States

Location

Fetal Diagnostic Institute of the Pacific

Honolulu, Hawaii, 96814, United States

Location

Spectrum Health

Grand Rapids, Michigan, 49503, United States

Location

Women and Infants Hospital of Rhode Island

Providence, Rhode Island, 02902-2499, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Plasma, white blood cells

MeSH Terms

Conditions

Down SyndromeAneuploidyTrisomy

Condition Hierarchy (Ancestors)

Intellectual DisabilityNeurobehavioral ManifestationsNeurologic ManifestationsNervous System DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesChromosome DisordersGenetic Diseases, InbornChromosome AberrationsPathologic ProcessesPathological Conditions, Signs and SymptomsChromosome Duplication

Study Officials

  • Juan-Sebastian Saldivar, M.D.

    Sequenom, Inc.

    STUDY DIRECTOR

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
CROSS SECTIONAL
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

January 15, 2010

First Posted

January 20, 2010

Study Start

November 1, 2009

Primary Completion

August 31, 2021

Study Completion

August 31, 2021

Last Updated

September 20, 2021

Record last verified: 2020-04

Data Sharing

IPD Sharing
Will not share

Samples and data are used in research and development of a noninvasive prenatal test. However, sample data used in publications will be shared as per requirements of the journal.

Locations