New trend in non-invasive prenatal diagnosis

Research output: Contribution to journalArticlepeer-review


The presence of fetal DNA in maternal plasma represents a source of genetic material which can be obtained non-invasively. To date, the translation of noninvasive prenatal diagnosis from research into clinical practice has been rather fragmented, and despite the advances in improving the analytical sensitivity of methods, distinguishing between fetal and maternal sequences remains very challenging. Thus, the field of noninvasive prenatal diagnosis of genetic diseases has yet to attain a routine application in clinical diagnostics. On the contrary, fetal sex determination in pregnancies at high risk of sex-linked disorders, tests for fetal RHD genotyping and non-invasive assessment of chromosomal aneuploidies are now available worldwide.

Original languageEnglish
Pages (from-to)9-13
Number of pages5
JournalClinica Chimica Acta
Publication statusPublished - Oct 23 2014


  • Chromosomal aneuploidies
  • Monogenic diseases
  • Non-invasive prenatal diagnosis
  • Paternally inherited features

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Biochemistry, medical


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