Prenatal Diagnosis of Trisomy 21 with Fetal Cells in Maternal Blood Using Comparative Genomic Hybridization

Vol. 21, No. 1, 2006

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Paper

Prenatal Diagnosis of Trisomy 21 with Fetal Cells in Maternal Blood Using Comparative Genomic Hybridization
Young Ho Yang^{a, b, c}, Eun Suk Yang^a, Ja Young Kwon^a, In Kyu Kim^{a, b}, Yong Won Park^a

^aDepartment of Obstetrics and Gynecology,
^bDivision of Prenatal Genetic Clinic,
^cThe Genetic Laboratory of the Medical Research Center, Yonsei University College of Medicine, Seoul, Korea

Address of Corresponding Author

Fetal Diagn Ther 2006;21:125-133 (DOI: 10.1159/000089062)

Key Words

Prenatal diagnosis
Fetal nucleated red blood cells
Comparative genomic hybridization
Laser-mediated microdissection

Abstract

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.

Author Contacts

Prof. Young Ho Yang, MD
Department of Obstetrics and Gynecology
Yonsei University College of Medicine
CPO Box 8044, Seoul 120-752 (Korea)
Tel. +82 2 228 2231, Fax +82 2 313 8357, E-Mail ob@yumc.yonsei.ac.kr

Article Information

Received: July 13, 2004
Accepted after revision: January 18, 2005
Number of Print Pages : 9
Number of Figures : 5, Number of Tables : 0, Number of References : 41

Medline Abstract (ID 16354990)

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