Recent advances in non-invasive prenatal DNA diagnosis through analysis of maternal blood

Akihiko Sekizawa, Yuditiya Purwosunu, Ryu Matsuoka, Keiko Koide, Shiho Okazaki, Antonio Farina, Hiroshi Saito, Takashi Okai

Research output: Contribution to journalReview articlepeer-review

8 Citations (Scopus)


Prenatal diagnosis of aneuploidy and single-gene disorders is usually performed by collecting fetal samples through amniocentesis or chorionic villus sampling. However, these invasive procedures are associated with some degree of risk to the fetus and/or mother. Therefore, in recent years, considerable effort has been made to develop non-invasive prenatal diagnostic procedures. One potential non-invasive approach involves analysis of cell-free fetal DNA in maternal plasma or serum. Another approach utilizes fetal cells within the maternal circulation as a source of fetal DNA. At the present time, fetal gender and fetal RhD blood type within RhD-negative pregnant women can be reliably determined through analysis of maternal plasma. Furthermore, genetic alterations can be diagnosed in the maternal plasma when the mother does not have the alterations. However, the diagnosis of maternally inherited genetic disease and aneuploidy is limited using this approach. Non-invasive prenatal diagnosis through examination of intact fetal cells circulating within maternal blood can be used to diagnose a full range of genetic disorders. Since only a limited number of fetal cells circulate within maternal blood, procedures to enrich the cells and enable single cell analysis with high sensitivity are required. Recently, separation methods, including a lectin-based method and autoimage analyzing, have been developed, which have improved the sensitivity of genetic analysis. This progress has supported the possibility of non-invasive prenatal diagnosis of genetic disorders. In the present article, we discuss recent advances in the field of non-invasive prenatal diagnosis.

Original languageEnglish
Pages (from-to)747-764
Number of pages18
JournalJournal of Obstetrics and Gynaecology Research
Issue number6
Publication statusPublished - Dec 2007


  • Cell-free DNA
  • Fetal cell
  • Maternal blood
  • Non-invasive prenatal diagnosis
  • Nucleated erythrocyte


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