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

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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.

Original languageEnglish
JournalPrenatal Diagnosis
Pages (from-to)3-13
Number of pages11
Publication statusPublished - Jan 2023

    Research areas

  • Cystic Fibrosis/diagnosis, Female, Fetus, Genetic Testing/methods, Humans, Noninvasive Prenatal Testing, Pregnancy, Prenatal Diagnosis/methods, Trophoblasts

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