Clinical Performance of NIPT in Multiple Gestation Pregnancies

Clinical Performance of NIPT (Noninvasive Prenatal Testing) in Multiple Gestation Pregnancies (SCMM-T21-110)

This study plans to evaluate the clinical performance of the MaterniT21 PLUS and/or GENOME Laboratory Developed Test, in the detection of fetal trisomy 21 in circulating cell-free DNA extracted from maternal blood samples obtained from women pregnant with a twin gestation.

Study Overview

• Status: Completed
• Conditions: Trisomy 21 in Fetus
• Intervention / Treatment: Device: MaterniT21 PLUS and GENOME Laboratory-Developed Tests

• Study Type: Observational
• Enrollment (Actual): 2000

Contacts and Locations

Study Locations

• United States
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • University of Pennsylvania

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: N/A
• Genders Eligible for Study: Female

• 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, were pregnant with a multiple gestation at the time of testing and whose pregnancies should have outcome based upon gestational age at the time of testing.

Description

Inclusion Criteria:

• subject pregnant with a multiple gestation and received NIPT from Sequenom Laboratories;
• subject was 18 or older at the time of NIPT

Exclusion Criteria:

• none

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Retrospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Pregnancies with multiple gestations	Device: MaterniT21 PLUS and GENOME Laboratory-Developed Tests; Both the MaterniT21 PLUS and GENOME are intended for use as laboratory developed test that analyze ccfDNA extracted from a maternal blood sample utilizing Massively Parallel Sequencing (MPS) technology.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Determination of sensitivity of NIPT detection of trisomy 21 among a population of women with twin gestations.	time from maternal blood draw to delivery
Determination of specificity of NIPT detection of trisomy 21 among a population of women with twin gestations.	time from maternal blood draw to delivery

Collaborators and Investigators

• Sponsor: University of Pennsylvania
• Collaborators: Sequenom, Inc/Laboratory Corporation of America Holdings

Study record dates

Study Major Dates

• Study Start (Actual): March 1, 2020
• Primary Completion (Actual): November 15, 2021
• Study Completion (Actual): June 19, 2022

Study Registration Dates

• First Submitted: July 22, 2020
• First Submitted That Met QC Criteria: July 22, 2020
• First Posted (Actual): July 28, 2020

Study Record Updates

• Last Update Posted (Estimate): December 7, 2022
• Last Update Submitted That Met QC Criteria: December 5, 2022
• Last Verified: December 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Congenital Abnormalities; Genetic Diseases, Inborn; Intellectual Disability; Abnormalities, Multiple; Chromosome Disorders; Chromosome Aberrations; Aneuploidy; Chromosome Duplication; Down Syndrome; Trisomy
• Other Study ID Numbers: SCMM-T21-110

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