Noninvasive Screening for Affected Pregnancies: Assay Development & Optimization in Affected Pregnancies

Completed

• Conditions: Down Syndrome; Aneuploidy
• Interventions: Other: Maternal blood draw of 30 to 50ml

• Registration Number: NCT01052688
• Lead Sponsor: Sequenom, Inc.

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2009-11
• Study First Submitted: 2010-01-15
• Study First Submitted QC: 2010-01-19
• Study First Posted: 2010-01-20
• Status Verified: 2020-04
• Primary Completion: 2021-08-31
• Study Completion: 2021-08-31
• Last Update Submitted: 2021-09-16
• Last Update Posted: 2021-09-20

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Female
• Target Recruitment: 150

Inclusion Criteria

• 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)

Exclusion Criteria

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Pregnant Women	Maternal blood draw of 30 to 50ml	Pregnant women who have been definitively diagnosed as carrying a fetus with aneuploidy.

Primary Outcome Measures

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

Trial Locations

Locations (10)

Perinatal Care Associates; 🇺🇸 Phoenix, Arizona, United States

IGO; 🇺🇸 San Diego, California, United States

St. Joseph's Hospital and medical Center; 🇺🇸 Phoenix, Arizona, United States

Women's Healthcare at Frost Street; 🇺🇸 San Diego, California, United States

Sharp Grossmount; 🇺🇸 San Diego, California, United States

Fetal Diagnostic Institute of the Pacific; 🇺🇸 Honolulu, Hawaii, United States

San Diego Perinatal Center; 🇺🇸 San Diego, California, United States

Spectrum Health; 🇺🇸 Grand Rapids, Michigan, United States

Women and Infants Hospital of Rhode Island; 🇺🇸 Providence, Rhode Island, United States

Reiter, Hill, Johnson and Nevin; 🇺🇸 Washington, District of Columbia, United States