Fetal cells in maternal blood

Ss Wachtel, Lp Shulman, D. Sammons

Research output: Contribution to journalReview articlepeer-review

27 Scopus citations


Fetal lymphocytes, trophoblasts, and nucleated red blood cells have each been separated from maternal blood by methods such as flow cytometry, magnetic cell sorting, and charge flow separation. The frequency of fetal cells among circulating maternal mononuclear cells remains to be ascertained. Current estimates range from about 10-5 to 10-7, but the numbers may be increased in women carrying aneuploid fetuses. Fetal cells separated from maternal blood have been studied by methods such as polymerase chain reaction and fluorescence in situ hybridization. Among fetal conditions so far identified are sex; human leukocyte antigen and Rh blood types; trisomy 13, 18 and 21; triploidy; and sickle cell anemia and thalassemia. Thus, fetal cell separation might one day be used for screening of the common aneuploidies and, ultimately, for prenatal diagnosis. Individual fetal erythroid precursors have been cultured after separation in some laboratories. Culturing and karyotyping of separated fetal cells might enable diagnosis of a spectrum of chromosomal and genetic disorders. Further development will be required, however, before regular clinical application of these methodologies.

Original languageEnglish (US)
Pages (from-to)74-79
Number of pages6
JournalClinical Genetics
Issue number2
StatePublished - 2001


  • Amniocentesis
  • CVS
  • Chromosome aneuploidy
  • NRBC
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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