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

Not Applicable

Completed

• Conditions: Preimplantation Genetic Diagnosis; Prenatal Diagnoses
• Interventions: Procedure: Cell-based non-invasive prenatal testing

• Registration Number: NCT04584047
• Lead Sponsor: Aalborg University Hospital

Brief Summary

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).

Detailed Description

Not available

Study Timeline

• Study Start: 2018-06-18
• Primary Completion: 2019-11-21
• Study Completion: 2019-11-21
• Study First Submitted: 2020-09-23
• Study First Submitted QC: 2020-10-09
• Study First Posted: 2020-10-12
• Status Verified: 2024-01
• Last Update Submitted: 2024-01-30
• Last Update Posted: 2024-01-31

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 8

Inclusion Criteria

• Achieved pregnancy following preimplantation genetic testing

Exclusion Criteria

• None

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Intervention group	Cell-based non-invasive prenatal testing	This arm has blood collected either at the time of CVS.

Primary Outcome Measures

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

Secondary Outcome Measures

Name	Time	Method
Effectiveness of fetal cell isolation	Immidiately after genetic testing of the isolated fetal cells	How large a fraction of the potential fetal cells isolated is verified by genetic testing to be of fetal origin.
Effectiveness of testing the genetic variant of interest	Immidiately after genetic testing of the isolated fetal cells	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.

Trial Locations

Locations (1)

Fertility Unit, Aalborg University Hospital; 🇩🇰 Aalborg, Denmark