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 Jeppesen^1,2, Dorte Launholt Lildballe^2,3, Lotte Hatt¹, Jakob Hedegaard¹, Ripudaman Singh¹, Christian Liebst Frisk Toft^4,5, Palle Schelde¹, Anders Sune Pedersen^1,3, Michael Knudsen^1,3, Ida Vogel^2,6

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

Abstract:

Objectives:

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.

Methods:

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.

Results:

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

Conclusion:

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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