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

Aalborg University Hospital

Status: Completed

Conditions: Hereditary Diseases

Treatments: Genetic: Whole genome amplification

Study type: Interventional

Funder types: Other

Identifiers

NCT05453474

N-20180001 (cbNIPT v2)

Details and patient eligibility

About

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.

Full 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

Enrollment: 48 patients

Sex: Female

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Pregnancy following preimplantation genetic testing

Exclusion criteria

• None

Trial design

Primary purpose: Diagnostic

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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48 participants in 2 patient groups

WGA

Experimental group

Description:

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

Treatment:

Genetic: Whole genome amplification

No-WGA

No Intervention group

Description:

DNA from the cells are tested directly without whole genome amplification