title: Development of noninvasive fetal DNA diagnosis from nucleated erythrocytes circulating in maternal blood.
abstract: BACKGROUND
  A considerable effort is being spent in developing noninvasive prenatal DNA diagnostic procedures. We recently reported that nucleated erythrocytes (NRBCs) can be enriched from maternal blood by a galactose-specific lectin method. In the present study, to prove that fetal NRBCs are definitely present in maternal blood and are a good source for fetal genetic diagnosis, we evaluated methods for lectin enrichment and subsequent fluorescence in situ hybridization (FISH) analysis through fetal gender determination.
  
  
  METHODS
  Peripheral blood samples were collected from pregnant women (median 15, range: 10-18 weeks). From the blood samples, NRBCs were enriched based on galactose-specific lectin method. After detecting them by their morphology, NRBCs are separated and taken in a new glass slide by micromanipulator. We analyzed fetal gender using X and Y-chromosome-specific FISH probes. The results were compared with fetal gender analysis using Y-chromosomal sequences in maternal plasma.
  
  
  RESULTS
  The fetal gender analyses by FISH in 20 pregnant women were all in accordance with the results from maternal plasma analyses. It is confirmed that fetal NRBCs were present in maternal blood and that 30.4% of NRBCs in maternal blood were fetal in origin.
  
  
  CONCLUSIONS
  We have successfully carried out a noninvasive prenatal DNA diagnosis of fetal gender by using galactose-specific lectin method and subsequent FISH analysis.
authors.affiliation: The Study Group for Fetal DNA Diagnosis from Maternal Blood, Japan. sekizawa@med.showa-u.ac.jp
authors.forename: Akihiko
authors.initials: A
authors.lastname: Sekizawa
authors.forename: Yuditiya
authors.initials: Y
authors.lastname: Purwosunu
authors.forename: Antonio
authors.initials: A
authors.lastname: Farina
authors.forename: Takashi
authors.initials: T
authors.lastname: Okai
authors.forename: Haruo
authors.initials: H
authors.lastname: Takabayashi
authors.forename: Mikiko
authors.initials: M
authors.lastname: Kita
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Yura
authors.forename: Michihiro
authors.initials: M
authors.lastname: Kitagawa
mesh_terms: D004247:DNA / Q000032:analysis / Q000302:isolation & purification* / Q000378:metabolism; D004900:Erythroblasts / Q000166:cytology / Q000378:metabolism*; D005260:Female; D005333:Fetus / Q000378:metabolism; D006801:Humans; D008297:Male; D033261:Maternal-Fetal Relations; D009035:Mothers; D011247:Pregnancy; D011261:Pregnancy Trimester, First / Q000097:blood; D011262:Pregnancy Trimester, Second / Q000097:blood; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D004247:DNA