Cell-based non-invasive prenatal diagnosis in a pregnancy at risk of cystic fibrosis.

Abstract
Objective: We aimed to develop cell-based NIIPT for cystic fibrosis and test a pregnancy at risk of two common pathogenic variants. Method: A pregnant woman carrying monozygotic twins opted for prenatal testing as she and her partner were heterozygote carriers of F508del (c.1521:1523del). The partner was also positive for the CFTR-related variant R117H (c.350G>A). Fetal trophoblasts from maternal blood were enriched and isolated using antibodies and a capillary-based cell-picking instrument. Multiplex PCR-based fragment length analysis was performed on the extracted fetal DNA for STR-genotyping, fetal gender and F508del variant status. The R117H variant status was tested using SNaPshot analysis. This article is protected by copyright. All rights reserved. Results: The fetal origin of the isolated cells was varified by detection of two paternally inherited STR alleles and an Y chromosome marker, while no maternal DNA contamination was detected. The direct variant analysis detected F508del heterozygosity and the SNaPshot analysis for R117H detected only the normal allele. Thus, the results showed that the fetuses were healthy carriers of F508del, concordant with the findings of conventional prenatal testing. Conclusion: Cell-based NIPT could accurately state the fetal variant status and distinguish fetal trophoblasts from maternal cells. In the future, cell-based NIPT may provide an accurate less invasive alternative to chorionic villous sampling.


Metadata
Authors
Line Dahl Jeppesen, Lotte Hatt, Ripudaman Singh, Katarina Ravn, Mathias Kølvraa, Palle Schelde, Niels Uldbjerg, Ida Vogel, Dorte L Lildballe
Journal
Prenatal diagnosis
Publisher
Date
pm33150588
PM Id
33150588
PMC Id
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