Clinical Follow-up of Pregnant Subjects Undergoing NIPT

To obtain pregnancy outcome data from patients screened for fetal genetic status using non-invasive pregnancy testing (NIPT).

Study Overview

• Status: Completed
• Conditions: Pregnancy
• Intervention / Treatment: Device: NIPT

Detailed Description

To obtain pregnancy outcome data from patients screened for fetal genetic status using non-invasive pregnancy testing (NIPT) to analyze the performance of routine assay enhancements and to identify characteristics associated with adverse obstetric outcome.

• Study Type: Observational
• Enrollment (Actual): 20000

Contacts and Locations

Study Locations

• United States
  • Massachusetts
    • Westborough, Massachusetts, United States, 01581
      • Integrated Genetics

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

The Study Population will consist of women 18 years of age and older who underwent testing with a Sequenom NIPT and whose pregnancies should have outcome based upon gestational age at the time of testing.

Description

Inclusion Criteria:

• Subject was pregnant and received NIPT from Sequenom/Integrated Genetics
• Subject was 18 years of age or older at the time of NIPT
• Pregnancy outcome is available

Exclusion Criteria:

• None

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
NIPT clinical outcome performance	Sensitivity	9 months
NIPT clinical outcome performance	Specificity	9 months
NIPT clinical outcome performance	Positive predictive value	9 months
NIPT clinical outcome performance	Negative predictive value	9 months

Collaborators and Investigators

• Sponsor: Sequenom, Inc.
• Collaborators: Integrated Genetics
• Investigators: Principal Investigator: Kimberly Fanelli, MS, CGC, Integrated Genetics

Study record dates

Study Major Dates

• Study Start (Actual): October 13, 2020
• Primary Completion (Actual): September 1, 2026
• Study Completion (Actual): September 2, 2026

Study Registration Dates

• First Submitted: October 14, 2020
• First Submitted That Met QC Criteria: October 19, 2020
• First Posted (Actual): October 20, 2020

Study Record Updates

• Last Update Posted (Actual): September 8, 2026
• Last Update Submitted That Met QC Criteria: September 2, 2026
• Last Verified: September 1, 2026

More Information

Terms related to this study

• Other Study ID Numbers: SCMM-RND-111

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No