Cell-free DNA screening and sex chromosome aneuploidies
نویسندگان
چکیده
منابع مشابه
Implementation 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...
متن کاملThe pseudoautosomal region and sex chromosome aneuploidies in domestic species.
The pseudoautosomal region (PAR) is a unique and specialized segment on the mammalian sex chromosomes with known functions in male meiosis and fertility. Detailed molecular studies of the region in human and mouse show dramatic differences between the 2 PARs. Recent mapping efforts in horse, dog/cat, cattle/ruminants, pig and alpaca indicate that the PAR also varies in size and gene content bet...
متن کاملClinical 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, ...
متن کاملPerformance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies.
OBJECTIVES To report clinical implementation of cell-free DNA (cfDNA) analysis of maternal blood in screening for trisomies 21, 18 and 13 in twin pregnancies and examine variables that could influence the failure rate of the test. METHODS cfDNA testing was performed in 515 twin pregnancies at 10-28 weeks' gestation. The failure rate of the test to provide results was compared with that in 184...
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...
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ژورنال
عنوان ژورنال: Prenatal Diagnosis
سال: 2015
ISSN: 0197-3851
DOI: 10.1002/pd.4639