Clinical Perspective of Cell-Free DNA Testing for Fetal Aneuploidies
نویسندگان
چکیده
منابع مشابه
Clinical perspective of cell-free DNA testing for fetal aneuploidies.
Cell-free DNA testing in maternal blood provides the most effective method of screening for trisomy 21, with a reported detection rate of 99% and a false positive rate of less than 0.1%. After many years of research, this method is now commercially available and is carried out in an increasing number of patients, and there is an expanding number of conditions that can be screened for. However, ...
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National guidelines recommend that all pregnant women be offered screening for fetal chromosomal abnormalities, the majority of which are aneuploidies (an abnormal number of chromosomes). The trisomy syndromes are aneuploidies involving 3 copies of 1 chromosome. Trisomies 21 (T21), 18 (T18), and 13 (T13) are the most common forms of fetal aneuploidy that survive to birth. Noninvasive prenatal s...
متن کاملIntroducing a New and Simple Protocol for Capillary Electrophoresis of Cell Free Fetal Double Stranded DNA
Isolation of cell free fetal DNA (cffDNA) from maternal serum usually leads to very low concentrations of DNA impeding further resolving through conventional methods of electrophoresis. Although several protocols have been described for capillary electrophoresis (CE) of double stranded DNA, they usually need using special polymers or coated capillaries which degrade over time. Herein, we propos...
متن کاملAnalysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis.
OBJECTIVE To review clinical validation or implementation studies of maternal blood cell-free (cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 and sex chromosome aneuploidies. METHODS Searches of PubMed, EMBASE and The Cochrane Library were performed to identify all peer-reviewed articles on cfDNA testing in screening for aneuploidies between January...
متن کاملImplementation of maternal blood cell-free DNA testing in early screening for aneuploidies.
OBJECTIVE To explore the feasibility of routine maternal blood cell-free (cf) DNA testing in screening for trisomies 21, 18 and 13 at 10 weeks' gestation. METHOD In this prospective study, women attending The Fetal Medicine Centre in London, UK, between October 2012 and April 2013, with singleton pregnancy and live fetus with CRL 32-45 mm, were screened for trisomies 21, 18 and 13 by cfDNA te...
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ژورنال
عنوان ژورنال: Fetal Diagnosis and Therapy
سال: 2014
ISSN: 1015-3837,1421-9964
DOI: 10.1159/000362940