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

NCT05453474 | Completed

• 1 other identifier: N-20180001 (cbNIPT v2)
• Study Type: interventional
• Target: 48
• Locations: 1 country
• Sites: 1

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.

Conditions

Hereditary Diseases

Keywords

cell-based non-invasive prenatal testing; Hereditary disorders

Outcome Measures

Primary Outcomes (3)

• 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

• 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)

• Specificity and sensitivity of single cell analysis.

  Evaluation of the sensitivity and specificity of single cell analysis.

  Within 2 years

Study Arms (2)

WGA

EXPERIMENTAL

DNA from the cells are amplified by whole genome amplification prior to genetic testing.

Genetic: Whole genome amplification

No-WGA

NO INTERVENTION

DNA from the cells are tested directly without whole genome amplification

Interventions

Whole genome amplification GENETIC

DNA is amplified by whole genome amplification

WGA

Eligibility Criteria

• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Pregnancy following preimplantation genetic testing

You may not qualify if:

• None

Sponsors & Collaborators

• Aalborg University Hospital: lead
• Arcedi Biotech: collaborator
• Aarhus University Hospital: collaborator

Study Sites (1)

Fertility Unit, Aalborg University Hospital

Aalborg, 9000, Denmark

Location

Related 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, Pedersen IS. Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing. J Assist Reprod Genet. 2021 Aug;38(8):1959-1970. doi: 10.1007/s10815-021-02104-5. Epub 2021 Mar 7.

  PMID: 33677749 RESULT

Related Links

• ARCEDI Biotech homepage

MeSH Terms

Conditions

Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal investigator, Molecular Biologist, ph.d.

Model Details: All patients had either one or two blood samples collected. Each blood sampled had either all cells lyzed or cells were split between lysis and whole genome amplification. Hence, the study is considered to have to seperate analysis each with two arms.

Study Record Dates

• First Submitted: February 17, 2022
• First Posted: July 12, 2022
• Study Start: August 8, 2021
• Primary Completion: June 27, 2023
• Study Completion: June 27, 2023
• Last Updated: January 31, 2024

Record last verified: 2024-01

Data Sharing

• IPD Sharing: Will not share

Locations

DK (1)