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

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.