Cell Based Non Invasive Prenatal Testing as an Alternative to Chorionic Villus Sampling Following Preimplantation Genetic Testing

Evaluation of Cell-based Non-invasive Prenatal Testing as an Alternative to Chorionic Villus Sampling as a Tool to Confirm the Pregnancy With an Unaffected Fetus Following Preimplantation Genetic Testing

The study aims to investigate whether cell-based non-invasive prenatal testing (cbNIPT) can be used as an alternative to invasive chorionic villus sampling (CVS) in patients who achieve pregnancy following preimplantation genetic testing for monogenic disorders (PGT-M).

Study Overview

• Status: Completed
• Conditions: Preimplantation Genetic Diagnosis; Prenatal Diagnoses
• Intervention / Treatment: Procedure: Cell-based non-invasive prenatal testing

• Study Type: Interventional
• Enrollment (Actual): 8
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Christian Liebst Frisk Toft, Molecular Biologist; Phone Number: +45 26245209; Email: christian.toft@rn.dk

Study Locations

• Denmark
  • Aalborg, Denmark, 9000
    • Fertility Unit, Aalborg University Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Achieved pregnancy following preimplantation genetic testing

Exclusion Criteria:

• None

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Intervention group; This arm has blood collected either at the time of CVS.	Procedure: Cell-based non-invasive prenatal testing; Blood sampling.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Agreement between cbNIPT and CVS (The gold standard)	How do the cbNIPT results compare to the results of the genetic test following CVS	Immidiately after the results from cbNIPT and CVS has been obtained

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Effectiveness of fetal cell isolation	How large a fraction of the potential fetal cells isolated is verified by genetic testing to be of fetal origin.	Immidiately after genetic testing of the isolated fetal cells
Effectiveness of testing the genetic variant of interest	How often does the test on a fetal cell yield a result that allows determination of the mutational status of the embryo with respect to the genetic variant of interest.	Immidiately after genetic testing of the isolated fetal cells

Collaborators and Investigators

• Sponsor: Aalborg University Hospital
• Collaborators: Aarhus University Hospital; Rigshospitalet, Denmark; Horsens Hospital; Kolding Sygehus; Viborg Regional Hospital; Randers Regional Hospital; ARCEDI Biotech

Study record dates

Study Major Dates

• Study Start (Actual): June 18, 2018
• Primary Completion (Actual): November 21, 2019
• Study Completion (Actual): November 21, 2019

Study Registration Dates

• First Submitted: September 23, 2020
• First Submitted That Met QC Criteria: October 9, 2020
• First Posted (Actual): October 12, 2020

Study Record Updates

• Last Update Posted (Estimated): January 31, 2024
• Last Update Submitted That Met QC Criteria: January 30, 2024
• Last Verified: January 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Disease
• Other Study ID Numbers: N-20180001

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: IPD is shared upon request to the principal investigator.
• IPD Sharing Time Frame: Upon request
• IPD Sharing Access Criteria: Contact via principal investigator
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; SAP; ICF; ANALYTIC_CODE; CSR

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No