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

ObjectivesCystic 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. MethodsBlood 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. ResultsIn all 27 cases, cell-based NIPT provided a result using both methods in agreement with the invasive test result. ConclusionThis study shows that cell-based NIPT for CF screening provides a reliable result without the need for partner- and proband samples.

Automated summary

This study shows that cell-based noninvasive prenatal test (NIPT) provides reliable results for cystic fibrosis screening, without the need for partner and proband samples.