Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants

Jeppesen et al., 2022, Prenatal Diagnosis

Line Dahl Jeppesen1,2, Dorte Launholt Lildballe2,3, Lotte Hatt1, Jakob Hedegaard1, Ripudaman Singh1, Christian Liebst Frisk Toft4,5, Palle Schelde1, Anders Sune Pedersen1,3, Michael Knudsen1,3, Ida Vogel2,6

Prenatal Diagnosis, 2022


1ARCEDI, Vejle, Danmark

2Center for Fetal Diagnostics, Department of Clinical Medicine, Faculty of Health, Aarhus University, Aarhus, Denmark

3Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark

4Department of Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark

5Center for Preimplantation Genetic Testing, Aalborg University Hospital, Aalborg, Denmark

6Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark

DOI: 10.1002/pd.6276

PMID: 36447355



Cystic fibrosis (CF) is one of the most common severe autosomal recessive disorders. Prenatal or preconception CF screening is offered in some countries. A maternal blood sample in early pregnancy can provide circulating trophoblasts and offers a DNA source for genetic analysis of both the mother and the fetus. This study aimed to develop a cell-based noninvasive prenatal test (NIPT) to screen for the 50 most common CF variants.


Blood samples were collected from 30 pregnancies undergoing invasive diagnostics and circulating trophoblasts were harvested in 27. Cystic fibrosis testing was conducted using two different methods: by fragment length analysis and by our newly developed NGS-based CF analysis.


In all 27 cases, cell-based NIPT provided a result using both methods in agreement with the invasive test result.


This study shows that cell-based NIPT for CF screening provides a reliable result without the need for partner- and proband samples.  

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