Abstract：
:The discovery of free fetal DNA in the maternal circulation has inaugurated the era of non-invasive prenatal diagnosis. The latter has the advantage of avoiding the use of conventional obstetric procedures, such as chorionic villus sampling or aspiration of amniotic fluid, thus limiting the risks of miscarriage they induce. However, as free fetal DNA accounts for about 10% of cell-free DNA in maternal plasma, the presence of ambient maternal DNA can make it difficult to detect fetal alleles of paternal origin. Digital Droplet PCR (ddPCR) is a very sensitive method derived from quantitative real-time PCR (qPCR) for the detection of rare alleles and their absolute quantification by removing the necessity of standards. Here we show that this new technology can be applied in routine prenatal fetal RHD genotyping from maternal blood. In conclusion, the use of quantitative properties of digital PCR, in terms of accuracy, sensitivity and specificity, allows one to consider extending the applications of this new technology in non-invasive prenatal diagnosis of many diseases such as autosomal monogenic diseases, either dominant or recessive.
journal_name
Ann Biol Clin (Paris)journal_title
Annales de biologie cliniqueauthors
Orhant L,Rondeau S,Vasson A,Anselem O,Goffinet F,Allach El Khattabi L,Leturcq F,Vidaud D,Bienvenu T,Tsatsaris V,Nectoux Jdoi
10.1684/abc.2016.1139subject
Has Abstractpub_date
2016-06-01 00:00:00pages
269-77issue
3eissn
0003-3898issn
1950-6112pii
abc.2016.1139journal_volume
74pub_type
杂志文章abstract：:Biochemical diagnosis of hereditary metabolic diseases requires the detection and simultaneous identification of a large number of compounds, hence the interest in metabolic profiles. Amino acid chromatography allows the identification and quantification of more than forty compounds. As part of the accreditation proce...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,实务指引
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journal_title：Annales de biologie clinique
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journal_title：Annales de biologie clinique
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journal_title：Annales de biologie clinique
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journal_title：Annales de biologie clinique
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journal_title：Annales de biologie clinique
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journal_title：Annales de biologie clinique
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doi：
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journal_title：Annales de biologie clinique
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journal_title：Annales de biologie clinique
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journal_title：Annales de biologie clinique
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更新日期：1995-01-01 00:00:00
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