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

Not Applicable

Completed

• Conditions: Hereditary Diseases
• Interventions: Genetic: Whole genome amplification

• Registration Number: NCT05453474
• Lead Sponsor: Aalborg University Hospital

Brief Summary

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.

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 Timeline

• Study Start: 2021-08-08
• Study First Submitted: 2022-02-17
• Study First Submitted QC: 2022-07-07
• Study First Posted: 2022-07-12
• Primary Completion: 2023-06-27
• Study Completion: 2023-06-27
• Status Verified: 2024-01
• Last Update Submitted: 2024-01-30
• Last Update Posted: 2024-01-31

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Female
• Target Recruitment: 48

Inclusion Criteria

• Pregnancy following preimplantation genetic testing

Exclusion Criteria

• None

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
WGA	Whole genome amplification	DNA from the cells are amplified by whole genome amplification prior to genetic testing.

Primary Outcome Measures

Name	Time	Method
Evaluation of the fetal cell yield when blood sampling is performed at Gestational weeks 7-8 compared to gestational weeks 11-14.	Within 2 years	Evaluation of whether cbNIPT be performed in gestational week 7-8.
Specificity and sensitivity of single cell analysis.	Within 2 years	Evaluation of the sensitivity and specificity of single cell analysis.
Percentage of test with an informative test result from genetic testing following whole genome amplification or direct testing without whole genome amplification.	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.

Trial Locations

Locations (1)

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