Cell-based Non-invasive Prenatal Testing as an Alternative to Invasive Chorionic Villus Sampling

January 30, 2024 updated by: Christian Liebst Frisk Toft, Aalborg University Hospital

Cell-based Non-invasive Prenatal Testing - Evaluation of Time of Blood Sampling and Whole Genome Amplification Prior to Genetic Testing

The study aims to evaluate cell-based non-invasive prenatal testing (cbNIPT) as an alternative to invasive chorionic villus sampling (CVS) in patients who achieve pregnancy following preimplantation genetic testing for hereditary disorders.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

The study has three main objects:

  1. to evaluate the optimal time of blood sampling (gestational week 7-8 or 11-14)
  2. to evaluate whole genome amplification prior to genetic analysis og isolated fetal cells (only relevant for monogenic disorders)
  3. evaluating specificity and sensitivity

Study Type

Interventional

Enrollment (Actual)

48

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

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

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Description

Inclusion Criteria:

  • Pregnancy following preimplantation genetic testing

Exclusion Criteria:

  • None

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: Non-Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: WGA
DNA from the cells are amplified by whole genome amplification prior to genetic testing.
Genetic: Whole genome amplification
DNA is amplified by whole genome amplification
No Intervention: No-WGA
DNA from the cells are tested directly without whole genome amplification

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Evaluation of the fetal cell yield when blood sampling is performed at Gestational weeks 7-8 compared to gestational weeks 11-14.
Time Frame: Within 2 years
Evaluation of whether cbNIPT be performed in gestational week 7-8.
Within 2 years
Specificity and sensitivity of single cell analysis.
Time Frame: Within 2 years
Evaluation of the sensitivity and specificity of single cell analysis.
Within 2 years
Percentage of test with an informative test result from genetic testing following whole genome amplification or direct testing without whole genome amplification.
Time Frame: Within 2 years (since data analysis is carried out later than sample collection)
Analysis of whether genetic testing on whole genome amplified material is inferior to genetic testing directly on DNA purified from single cells.
Within 2 years (since data analysis is carried out later than sample collection)

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Aalborg University Hospital

Collaborators

Aarhus University Hospital
Arcedi Biotech

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 8, 2021

Primary Completion (Actual)

June 27, 2023

Study Completion (Actual)

June 27, 2023

Study Registration Dates

First Submitted

February 17, 2022

First Submitted That Met QC Criteria

July 7, 2022

First Posted (Actual)

July 12, 2022

Study Record Updates

Last Update Posted (Actual)

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

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • N-20180001 (cbNIPT v2)

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

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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