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

Hereditary Diseases Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT05453474
• Other study ID #: N-20180001 (cbNIPT v2)
• Status: Completed
• Phase: N/A
• Start date: August 8, 2021
• Est. completion date: June 27, 2023

Study information

• Verified date: January 2024
• Source: Aalborg University Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 48
• Est. completion date: June 27, 2023
• Est. primary completion date: June 27, 2023
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Female
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Pregnancy following preimplantation genetic testing

Exclusion Criteria:

• None

Related Conditions & MeSH terms

• Genetic Diseases, Inborn
• Hereditary Diseases

Intervention

Genetic:
• Whole genome amplification
DNA is amplified by whole genome amplification

Locations

Country	Name	City	State
Denmark	Fertility Unit, Aalborg University Hospital	Aalborg

Sponsors (3)

Lead Sponsor	Collaborator
Aalborg University Hospital	Aarhus University Hospital, ARCEDI Biotech

Country where clinical trial is conducted

Denmark, 

References & Publications (1)

Toft CLF, Ingerslev HJ, Kesmodel US, Hatt L, Singh R, Ravn K, Nicolaisen BH, Christensen IB, Kolvraa M, Jeppesen LD, Schelde P, Vogel I, Uldbjerg N, Farlie R, Sommer S, Ostergard MLV, Jensen AN, Mogensen H, Kjartansdottir KR, Degn B, Okkels H, Ernst A, Pe — View Citation

Outcome

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

External Links

•   ARCEDI Biotech homepage