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Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing.
- Source :
-
Prenatal diagnosis [Prenat Diagn] 2018 Dec; Vol. 38 (13), pp. 1069-1078. Date of Electronic Publication: 2018 Nov 19. - Publication Year :
- 2018
-
Abstract
- Objective: To gather additional data on the ability to detect subchromosomal abnormalities of various sizes in single fetal cells isolated from maternal blood, using low-coverage shotgun next-generation sequencing for cell-based noninvasive prenatal testing (NIPT).<br />Method: Fetal trophoblasts were recovered from approximately 30 mL of maternal blood using maternal white blood cell depletion, density-based cell separation, immunofluorescence staining, and high-resolution scanning. These trophoblastic cells were picked as single cells and underwent whole genome amplification for subsequent genome-wide copy number analysis and genotyping to confirm the fetal origin of the cells.<br />Results: Applying our fetal cell isolation method to a series of 125 maternal blood samples, we detected on average 4.17 putative fetal cells/sample. The series included 15 cases with clinically diagnosed fetal aneuploidies and five cases with subchromosomal abnormalities. This method was capable of detecting findings that were 1 to 2 Mb in size, and all were concordant with the microarray or karyotype data obtained on a fetal sample. A minority of fetal cells showed evidence of genome degradation likely related to apoptosis.<br />Conclusion: We demonstrate that this cell-based NIPT method has the capacity to reliably diagnose fetal chromosomal abnormalities down to 1 to 2 Mb in size.<br /> (© 2018 The Authors Prenatal Diagnosis Published by John Wiley & Sons Ltd.)
- Subjects :
- Adult
Cell Separation
Chromosome Deletion
Female
Fluorescent Antibody Technique
Genotype
Humans
Karyotype
Male
Pregnancy
Prenatal Diagnosis
Single-Cell Analysis
Tissue Array Analysis
Young Adult
Chromosome Aberrations
DNA Copy Number Variations
Gene Deletion
Gene Duplication
Trophoblasts metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 1097-0223
- Volume :
- 38
- Issue :
- 13
- Database :
- MEDLINE
- Journal :
- Prenatal diagnosis
- Publication Type :
- Academic Journal
- Accession number :
- 30357877
- Full Text :
- https://doi.org/10.1002/pd.5377