Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma
نویسندگان
چکیده
منابع مشابه
Non-Invasive Prenatal RHD Genotyping Using Cell-Free Fetal DNA from Maternal Plasma: An Italian Experience.
BACKGROUND This study assessed the diagnostic accuracy of a non-invasive approach to fetal RHD genotyping using cell-free fetal DNA in maternal plasma and a combination of methodological strategies. METHODS Real-time PCR (qPCR) was performed on 216 RhD-negative women between weeks 10+0 and 14+6 of gestation (1st qPCR). qPCR was repeated (2nd qPCR) to increase the amount of each sample for ana...
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 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 کاملAn Effective Method for Detecting Y-chromosome Specific Sequences of Circulating Fetal DNA in Maternal Plasma During the First-trimester
Background and Aims: New advances in the use of cell-free fetal DNA (cffDNA) in maternal plasma of pregnant women has provided the possibility of applying cffDNA in prenatal diagnosis as a non-invasive method. One of the applications of prenatal diagnosis is fetal gender determination. Early prenatal determination of fetal sex is required for pregnant women at risk of X-linked and some endocrin...
متن کاملPosition Statement from the Italian College of Fetal Maternal Medicine: Non-invasive prenatal testing (NIPT) by maternal plasma DNA sequencing.
In recent years, researchers have been trying to isolate traces of foetal DNA from maternal blood in order to identify a possible Down’s syndrome foetus and, trisomy of chromosomes 13 and 18. At present, all International literature and the current Guidelines are against the utilization of such screening for clinical diagnostic purposes in general populations. In fact, the tests are extremely i...
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ژورنال
عنوان ژورنال: Journal of Assisted Reproduction and Genetics
سال: 2010
ISSN: 1058-0468,1573-7330
DOI: 10.1007/s10815-010-9489-1