Tests non invasifs et maladies géniques : que peut-on faire ?

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• 作者：M.-C. Vincent
• 关键词：Cell ; free fetal DNA ; Maternal blood ; Single ; gene disorders ; Cystic fibrosis ; Noninvasive prenatal diagnosis
• 刊名：Revue de m¨¦decine p¨¦rinatale
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：8
• 期：1
• 页码：18-25
• 全文大小：1,277 KB
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• 作者单位：M.-C. Vincent (1)
  
  1. Laboratoire de génétique moléculaire, université de Montpellier, EA7402, CHRU de Montpellier, institut universitaire de recherche clinique (IURC), 641, avenue du Doyen-Gaston-Giraud, F-34093, Montpellier cedex 05, France
  
• 刊物主题：Obstetrics/Perinatology; Pediatrics; Imaging / Radiology; Intensive / Critical Care Medicine;
• 出版者：Springer Paris
• ISSN：1965-0841

文摘

Analysis of cell-free fetal DNA (cffDNA) in maternal plasma is very promising for early diagnosis ofmonogenic diseases. However, noninvasive prenatal diagnosis (NIPD) of these disorders has been limited by the lack of sensitivity of the basic biomolecular methods, by the availability of suitable technical platforms, and the need to set up patient- or disease-specific custom-made approaches. Initially, it was only possible to identify DNA sequences that are either paternal in origin or have arisen de novo in some autosomal dominant conditions. NIPD can also be applied to autosomal recessive conditions if the parents carry different mutant alleles by excluding the presence of paternal mutant alleles in maternal plasma. More recently, advances in DNA technology, such as next-generation sequencing (NGS), have allowed accurate quantification of specific sequences in maternal plasma, and subsequently enabled noninvasive testing for conditions such as thalassaemia. Today, the hospital of Montpellier provides the first NIPD test for cystic fibrosis from maternal blood by analysis of the cffDNA by searching the paternal mutation in families with CFTR compound heterozygosity.