Prenatal diagnosis of trisomy 21 with fetal cells in maternal blood using comparative genomic hybridization.
OBJECTIVE
This study was undertaken to determine the clinical use of comparative genomic hybridization (CGH) for detection of fetal trisomy 21 from fetal ceIls (nucleated red blood cells; nRBCs) isolated from maternal peripheral venous blood.


METHODS
Maternal peripheral venous blood samples were collected in sterile tubes containing heparin. After triple density gradient centrifugation, magnetic activated cell sorting using CD45 and CD71 was used to isolate the fetal nRBCs. Fetal nRBCs were successfully isolated from maternal peripheral blood in all cases. After laser-microdissecting fetal nRBCs, degenerate oligonucleotide-primed polymerase chain reaction, and nick translation, DNA size was suitable for hybridization.


RESULTS
By CGH analysis, we diagnosed one normal male, one normal female, and one trisomy 21 male fetus. These results were confirmed by amniocentesis.


CONCLUSIONS
Prenatal diagnosis from fetal cells in maternal peripheral blood by CGH shows clinical promise as an alternative or as a supplement to fluorescence in situ hybridization with chromosome-specific probes but further studies are warranted.
Yang
Young Ho
YH
Department of Obstetrics and Gynecology, Yonsei University College of Medicine, Seoul, Korea. ob@yumc.yonsei.ac.kr
Yang
Eun Suk
ES
Kwon
Ja Young
JY
Kim
In Kyu
IK
Park
Yong Won
YW
D004247:DNA / Q000032:analysis; D004314:Down Syndrome / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics; D004912:Erythrocytes / Q000166:cytology*; D005260:Female; D005333:Fetus / Q000166:cytology*; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization / Q000379:methods*; D021041:Placental Circulation; D011247:Pregnancy; D011296:Prenatal Diagnosis
D004247:DNA