Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants.
Prenat Diagn
; 43(1): 3-13, 2023 01.
Article
em En
| MEDLINE
| ID: mdl-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 differentmethods:
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.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Fibrose Cística
/
Teste Pré-Natal não Invasivo
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Limite:
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Prenat Diagn
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Dinamarca