Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications
نویسندگان
چکیده
منابع مشابه
Non-invasive prenatal diagnosis by single molecule counting technologies.
Non-invasive prenatal diagnosis of fetal chromosomal aneuploidies and monogenic diseases by analysing fetal DNA present in maternal plasma poses a challenging goal. In particular, the presence of background maternal DNA interferes with the analysis of fetal DNA. Using single molecule counting methods, including digital PCR and massively parallel sequencing, many of the former problems have been...
متن کاملInvasive or non-invasive prenatal genetic diagnosis?
About 40 years ago, invasive prenatal diagnosis techniques were introduced in obstetrics. Initially, amniocentesis was performed followed by placentacentesis, fetoscopy, fetal blood sampling (FBS), and chorionic villus sampling (CVS). These procedures, while invading the uterine environment, have made it possible to proceed with the retrieval of biological tissue of fetal origin for analysis an...
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Prenatal screening and diagnosis are routinely offered at antenatal care clinic visits, and are important in decision making about the continuation of pregnancies affected by genetic conditions for which there are no cures, and prevention through therapeutic abortion is a reasonable option. Prenatal screening is offered to all pregnant women and include fetal ultrasonography and maternal serum ...
متن کاملI-40: Non Invasive Prenatal Genetic Diagnosis;Current Status and The Future
Discovery of cell free fetal DNA in 1997 has deeply changed the outlook of prenatal diagnosis approaches as most of the clinically established screening tests are not sensitive/specific enough while the current practical diagnostic tests are also invasive in their nature. The most common prenatal screening test is routinely practiced for the diagnosis of Down syndrome (DS) which includes a 10% ...
متن کاملNon-invasive prenatal diagnosis of Down's syndrome.
Down syndrome (trisomy 21), which has an incidence of 1 in 800 live births, is considered to be the most frequent etiology of mental retardation and it is the predominant reason for women seeking prenatal diagnosis [Driscoll & Gross, 2009]. Trisomy 21 is used as a benchmark because it is the most common aneuploidy compatible with life and is associated with mental retardation and serious congen...
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ژورنال
عنوان ژورنال: Genome Medicine
سال: 2012
ISSN: 1756-994X
DOI: 10.1186/gm345