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

NCT ID: NCT05453474

Last Updated: 2024-01-31

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

48 participants

Study Classification

INTERVENTIONAL

Study Start Date

2021-08-08

Study Completion Date

2023-06-27

Brief Summary

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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

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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

Conditions

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Hereditary Diseases

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

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.
Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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WGA

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

Group Type EXPERIMENTAL

Whole genome amplification

Intervention Type GENETIC

DNA is amplified by whole genome amplification

No-WGA

DNA from the cells are tested directly without whole genome amplification

Group Type NO_INTERVENTION

No interventions assigned to this group

Interventions

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Whole genome amplification

DNA is amplified by whole genome amplification

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

* Pregnancy following preimplantation genetic testing

Exclusion Criteria

* None
Eligible Sex

FEMALE

Accepts Healthy Volunteers

Yes

Sponsors

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Arcedi Biotech

INDUSTRY

Sponsor Role collaborator

Aarhus University Hospital

OTHER

Sponsor Role collaborator

Aalborg University Hospital

OTHER

Sponsor Role lead

Responsible Party

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Christian Liebst Frisk Toft

Principal investigator, Molecular Biologist, ph.d.

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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Fertility Unit, Aalborg University Hospital

Aalborg, , Denmark

Site Status

Countries

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Denmark

References

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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.

Reference Type RESULT
PMID: 33677749 (View on PubMed)

Related Links

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https://arcedi.com/

ARCEDI Biotech homepage

Other Identifiers

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N-20180001 (cbNIPT v2)

Identifier Type: -

Identifier Source: org_study_id

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