Human Genetics

, Volume 91, Issue 5, pp 427–432 | Cite as

Fetal nucleated cells in maternal peripheral blood: frequency and relationship to gestational age

  • Hiromi Hamada
  • Tadao Arinami
  • Takeshi Kubo
  • Hideo Hamaguchi
  • Hirokazu Iwasaki
Original Investigations


To determine the frequency of fetal nucleated cells in maternal peripheral blood during different stages of pregnancy, 50 primigravidas were investigated by determining the frequency of cells with the Y chromosome using fluorescence in situ hybridization (FISH) of Y-specific repetitive sequences of the DYZ1 family. Polymerase chain reaction (PCR) amplifying the same part of the DYZ1 used as the probe in FISH and a single-copy Y-specific fragment was also carried out for genomic DNA from the same samples. Cells with the hybridization signal were detected by FISH at and after 15 weeks of pregnancy in all pregnant women who gave birth to boys. The ratio of cells with the signal to those without the signal ranged from 1 in 144,000 to 1 in 4,000 with a tendency to increase as the pregnancy advanced. The frequency of fetal cells estimated by the PCR experiments was significantly and positively correlated with that found by FISH. The present study suggests that fetal nucleated cells increase in maternal peripheral blood with advancing gestation, from less than 1 in 100,000 nucleated cells in the first trimester to around 1 in 10,000 at term. These frequencies were much lower than those reported by cytological methods.


Polymerase Chain Reaction Internal Medicine Pregnant Woman Metabolic Disease Hybridization Signal 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag 1993

Authors and Affiliations

  • Hiromi Hamada
    • 1
  • Tadao Arinami
    • 2
  • Takeshi Kubo
    • 1
  • Hideo Hamaguchi
    • 2
  • Hirokazu Iwasaki
    • 1
  1. 1.Department of Obstetrics and GynecologyInstitute of Clinical Medicine, University of TsukubaJapan
  2. 2.Department of Medical GeneticsInstitute of Basic Medical Sciences, University of TsukubaJapan

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