Diagnosi prenatale delle malattie genetiche: Presente e futuro

Translated title of the contribution: Antenatal diagnosis of genetic diseases: Present and future

Maurizio Ferrari, S. Galbiatia, L. Cremonesia

Research output: Contribution to journalArticlepeer-review

Abstract

Invasive prenatal diagnosis based on the analysis of fetal DNA extracted from chorioni villi or amniocytes has been performed during the last 30 years and since then a variety of diagnostic protocols for molecular characterization of causative mutations in genetic diseases have been developed. The recent identification of fetal DNA in maternal plasma made possible the application of alternative noninvasive procedures which do not constitute a risk for the fetus. Fetal DNA in maternal plasma is in the presence of an excess of maternal DNA which makes particularly difficult to distinguish between fetal and maternal sequences also because most genetic diseases are caused by point mutations. This demands the use of highly sensitive, accurate and accessible methodologies which have the potential to be applied in the routine clinical service.

Translated title of the contributionAntenatal diagnosis of genetic diseases: Present and future
Original languageItalian
Pages (from-to)100-104
Number of pages5
JournalRivista Italiana della Medicina di Laboratorio
Volume6
Issue number2
Publication statusPublished - 2010

ASJC Scopus subject areas

  • Biochemistry, medical
  • Medical Laboratory Technology

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