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

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

Status

Completed

Phases

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT05453474

Enrollment

Registered

2022-07-12

Start date

2021-08-08

Completion date

2023-06-27

Last updated

2024-01-31

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hereditary Diseases

Keywords

cell-based non-invasive prenatal testing, Hereditary disorders

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

Interventions

GENETICWhole genome amplification

DNA is amplified by whole genome amplification

Study design

Allocation

NON_RANDOMIZED

Intervention model

PARALLEL

Primary purpose

DIAGNOSTIC

Masking

NONE

Intervention model description

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.

Eligibility

Sex/Gender

FEMALE

Healthy volunteers

Yes

Inclusion criteria

* Pregnancy following preimplantation genetic testing

Exclusion criteria

* None

Design outcomes

Primary

Measure	Time frame	Description
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.
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.
Specificity and sensitivity of single cell analysis.	Within 2 years	Evaluation of the sensitivity and specificity of single cell analysis.

Countries

Denmark

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026