1 Implementing prenatal diagnosis of cystic fibrosis based on cell-free fetal DNA
نویسندگان
چکیده
منابع مشابه
Implementing Prenatal Diagnosis Based on Cell-Free Fetal DNA: Accurate Identification of Factors Affecting Fetal DNA Yield
OBJECTIVE Cell-free fetal DNA is a source of fetal genetic material that can be used for non-invasive prenatal diagnosis. Usually constituting less than 10% of the total cell free DNA in maternal plasma, the majority is maternal in origin. Optimizing conditions for maximizing yield of cell-free fetal DNA will be crucial for effective implementation of testing. We explore factors influencing yie...
متن کاملCell-free fetal DNA and non-invasive prenatal diagnosis.
Currently in the UK, prenatal diagnosis of genetic conditions and Down’s syndrome requires invasive diagnostic tests such as amniocentesis and chorionic villus sampling (CVS). Procedural related miscarriage rates of about 1% have been quoted for these tests which are not usually done before 11 weeks’ gestation. Annually in the UK, 32 000 women have an invasive diagnostic test as a result of oth...
متن کاملConfirmation of prenatal diagnosis of cystic fibrosis by DNA typing of fetal tissues.
Tissues from eight fetuses, diagnosed on the basis of amniotic fluid microvillar enzyme assay as having cystic fibrosis, were conserved in frozen storage for up to three years. Adequate samples of undegraded DNA could be extracted from small intestine, lung, and liver. DNA typing, with restriction fragment length polymorphisms tightly linked to the cystic fibrosis gene, showed all eight diagnos...
متن کاملNon-invasive prenatal diagnosis of fetal trisomy 21 using cell-free fetal DNA in maternal blood
Since the existence of cell-free fetal DNA (cff-DNA) in maternal circulation was discovered, it has been identified as a promising source of fetal genetic material in the development of reliable methods for non-invasive prenatal diagnosis (NIPD) of fetal trisomy 21 (T21). Currently, a prenatal diagnosis of fetal T21 is achieved through invasive techniques, such as chorionic villus sampling or a...
متن کاملGenetic characterisation of circulating fetal cells allows non-invasive prenatal diagnosis of cystic fibrosis.
OBJECTIVES Cystic fibrosis (CF) is an autosomal recessive disease due to mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The purpose of this study was to develop a molecular method to characterise both paternal and maternal CFTR alleles in DNA from circulating fetal cells (CFCs) isolated by ISET (isolation by size of epithelial tumour/trophoblastic cells). ME...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2016
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(16)30241-7