Format

Send to

Choose Destination
Prenat Diagn. 2017 Nov;37(11):1120-1124. doi: 10.1002/pd.5150. Epub 2017 Oct 10.

On the road to replacing invasive testing with cell-based NIPT: Five clinical cases with aneuploidies, microduplication, unbalanced structural rearrangement, or mosaicism.

Author information

1
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
2
Center for Prenatal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.
3
ARCEDI Biotech ApS, Vejle, Denmark.
4
Department of Obstetrics and Gynecology, Aarhus University Hospital, Aarhus, Denmark.

Abstract

OBJECTIVE:

Trophoblastic fetal cells harvested from maternal blood have the capacity to be used for copy number analyses in a cell-based non-invasive prenatal test (cbNIPT). Potentially, this will result in increased resolution for detection of subchromosomal aberrations due to high quality DNA not intermixed with maternal DNA. We present 5 selected clinical cases from first trimester pregnancies where cbNIPT was used to demonstrate a wide range of clinically relevant aberrations.

METHOD:

Blood samples were collected from high risk pregnancies in gestational week 12 + 1 to 12 + 5. Fetal trophoblast cells were enriched and stained using fetal cell specific antibodies. The enriched cell fraction was scanned, and fetal cells were picked using a capillary-based cell picking instrument. Subsequently, whole genome amplification (WGA) was performed on fetal cells, and the DNA was analyzed blindly by array comparative genomic hybridization (aCGH).

RESULTS:

We present 5 cases where non-invasive cell-based prenatal test results are compared with aCGH results on chorionic villus samples (CVS), demonstrating aneuploidies including mosaicism, unbalanced translocations, subchromosomal deletions, or duplications.

CONCLUSION:

Aneuploidy and subchromosomal aberrations can be detected using fetal cells harvested from maternal blood. The method has the future potential of being offered as a cell-based NIPT with large high genomic resolution.

PMID:
28881392
DOI:
10.1002/pd.5150
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center