Non-invasive prenatal testing: use of cell-free fetal DNA in Down syndrome screening
نویسندگان
چکیده
منابع مشابه
Cell-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 کاملNon-invasive prenatal testing using cell-free fetal DNA in maternal circulation.
The identification of cell-free fetal DNA (cffDNA) in maternal circulation has made non-invasive prenatal testing (NIPT) possible. Maternal plasma cell free DNA is a mixture of maternal and fetal DNA, of which, fetal DNA represents a minor population in maternal plasma. Therefore, methods with high sensitivity and precision are required to detect and differentiate fetal DNA from the large backg...
متن کاملPerformance of non-invasive prenatal testing when fetal cell-free DNA is absent
Numerous studies have validated the accuracy of non-invasive prenatal testing (NIPT) using fetal cell-free DNA (cfDNA) to assess the risk of fetal aneuploidies early in pregnancy1, and we have used this technology in our practice since 2012 in both lowand high-risk women2. We are aware that several factors influence the fraction of fetal cfDNA present in maternal blood. Such factors include ges...
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Background: Prenatal diagnosis for Fetal Chromosomal anomalies currently relies on assessment of risk followed by a combination of biochemical and nuchal translucency. Trisomy 21 is the most common trisomy that is associated with intellectual disability. Pregnant women who receive a prenatal diagnosis of trisomy 21 currently have the option of continuing or terminating their pregnancy, but no f...
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...
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ژورنال
عنوان ژورنال: British Journal of General Practice
سال: 2017
ISSN: 0960-1643,1478-5242
DOI: 10.3399/bjgp17x691625