Prenatal diagnosis of fetal aneuploidies: post-genomic developments
نویسندگان
چکیده
منابع مشابه
prenatal diagnosis of fetal aneuploidies using qf-pcr in 333 cases
introduction: the most common chromosomal abnormalities detected in perinatal period are aneuploidies of chromosome 21, 18, 13, x and y. the aim of this study is to assess referral reasons for invasive diagnostic method using rapid qf-pcr for fetal chromosomal abnormalities in gynecologists’ referrals. methods: a retrospective study of results was performed on data between september 2015 and ju...
متن کاملUse of a DNA method, QF-PCR, in the prenatal diagnosis of fetal aneuploidies.
OBJECTIVE To provide Canadian health care providers with current information on the use of quantitative fluorescent polymerase chain reaction (QF-PCR) or equivalent technology in the prenatal diagnosis of fetal chromosomal abnormalities. OPTIONS Over the last few decades, prenatal diagnosis of fetal chromosomal abnormalities has relied on conventional cytogenetic analysis of cultured amniocyt...
متن کاملNoninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing.
OBJECTIVE To develop a new bioinformatic method in the noninvasive prenatal identification of common fetal aneuploidies using massively parallel sequencing on maternal plasma. METHODS Massively parallel sequencing was performed on plasma DNA samples from 108 pregnant women (median gestation: 12(+5) week) immediately before chorionic villus sampling (CVS) or amniocentesis. Data were analysed u...
متن کاملPrenatal detection of fetal aneuploidies using transcervical cell samples.
In the course of an investigation aimed at detecting the presence of trophoblastic cells in the endocervical canal of pregnant women between 7 and 17 weeks of gestation, several cases of aneuploidies were observed using a fluorescent in situ hybridisation (FISH) assay. The cases include fetal chromosome 21 and 18 trisomies, triploidy and sex chromosome aneuploidies. The results were confirmed b...
متن کاملNoninvasive prenatal diagnosis of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis.
BACKGROUND The discovery of circulating cell-free fetal nucleic acids in maternal plasma has opened up new possibilities for noninvasive prenatal diagnosis. The potential application of this technology for the noninvasive prenatal detection of fetal chromosomal aneuploidies is an aspect of this field that is being actively investigated. The main challenge of work in this area is the fact that c...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Genome Medicine
سال: 2010
ISSN: 1756-994X
DOI: 10.1186/gm171