- [Resource Hub](/) - [Publication](/?resource-type=publication#library) - Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing # Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing Vossaert L, Wang Q, Salman R, Zhuo X, Qu C, Henke D, et al. Prenatal Diagnosis . 2018;38(13):1069-1078. DOI [10.1002/pd.5377](https://doi.org/10.1002/pd.5377). PMID 30357877. PMCID PMC6587831. How to cite ### AMA Vossaert L, Wang Q, Salman R, Zhuo X, Qu C, Henke D, et al. Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing. Prenat Diagn . 2018;38(13):1069-1078. doi:10.1002/pd.5377 ### APA Vossaert, L., Wang, Q., Salman, R., Zhuo, X., Qu, C., Henke, D., et al. (2018). Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing. Prenatal Diagnosis , 38(13), 1069-1078. https://doi.org/10.1002/pd.5377 ### BibTeX @article{vossaert2018reliable, title = {Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing}, author = {Vossaert, Liesbeth and Wang, Qun and Salman, Roseen and Zhuo, Xinming and Qu, Chunjing and Henke, David and others}, journal = {Prenatal Diagnosis}, volume = {38}, number = {13}, pages = {1069-1078}, year = {2018}, doi = {10.1002/pd.5377}, pmid = {30357877} } Standard prenatal screening reads cell-free DNA from a maternal blood draw, but that DNA is a mix of maternal and fetal fragments. It flags common whole-chromosome problems well, yet small deletions and duplications are harder to see and usually need an invasive follow-up test to confirm. This group instead isolated whole fetal cells — trophoblasts — from about 30 mL of maternal blood, which yields pure fetal DNA. Across 125 samples they recovered on average 4.17 fetal cells each and sequenced them one cell at a time. The single-cell data detected deletions and duplications from 1.2 to 18.9 Mb, every one matching the amniocentesis or chorionic villus result, and it separated two genotypes in a case of confined placental mosaicism. [Read publication at Prenatal Diagnosis](https://pmc.ncbi.nlm.nih.gov/articles/PMC6587831/) ## Key findings - Fetal cells were recovered from nearly every sample. Across 125 maternal blood samples the method found an average of 4.17 putative fetal trophoblasts per sample (0.18 cells/mL), enough to analyze as single cells. - Single fetal cells resolved deletions and duplications down to the low-megabase range. Single-cell whole-genome amplification and low-coverage sequencing detected subchromosomal changes from 1.2 to 18.9 Mb, including an 18.9 Mb 4p (Wolf-Hirschhorn) deletion and a 1.2 Mb Xp gain. - Every finding of 1 Mb or larger matched the invasive diagnostic result. For the four cases with abnormalities of at least 1 Mb, all copy-number calls were concordant with the microarray or karyotype data from amniocentesis or chorionic villus sampling. ## CyteFinder in the methods “After the depletion step, all nucleated cells were separated based on density centrifugation, fixed, and stained. All samples were spread on CyteSlides (RareCyte, 800 000 cells/well) and scanned on the CyteFinder instrument (RareCyte), as previously described.” — Vossaert et al., Prenatal Diagnosis (2018), Methods, “Trophoblast enrichment and isolation” Disclosure: RareCyte is listed as an author affiliation on the publication cited above. Disclosure: RareCyte is named in the competing-interests statement of the publication cited above. ## Why it matters for CyteFinder users If your work turns on finding a few specific cells in a crowded background, this study shows the CyteFinder doing it in one of the harder settings there is. A fetal trophoblast is a single cell among the roughly 800,000 spread across a slide, and the instrument had to scan every well, read the cytokeratin and CD45 stains, and mark the cells worth picking. The rare-cell problem here is fetal rather than a tumor cell, but the demand on your instrument is the same: locate a scarce, specifically stained cell across a whole slide, then hand off clean coordinates for single-cell retrieval. What followed is the proof the detection held up — the picked cells yielded enough DNA for whole-genome amplification and sequencing, and calls down to 1.2 Mb agreed with the invasive diagnostic result. For CyteFinder users, the takeaway is that the scan-and-identify step you rely on for circulating tumor cells carries over to any rare cell you can stain, which widens where the instrument pays its way. 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