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KMID : 0311120000410020258
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Yonsei Medical Journal
2000 Volume.41 No. 2 p.258 ~ p.265
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Prenatal Genetic Diagnosis from Maternal Blood: Simultaneous Immunophenotypingand FISH of Fetal Nucleated Erythrocytes Isolated by Negative and Positive Magnetic Activated Cell Sorting
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Young Ho Yang/Young Ho Yang
Kwan Ja Jee/Sei Kwang Kim/Yong Won Park/In Kyu Kim/Dong Hyun Cha/Jae Eun Chung/Sung Hoon Kim
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Abstract
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Fetal nucleated red blood cells (nRBCs) are rare in maternal circulation, but their presence constitutes a potential source of non-invasive prenatal genetic diagnosis. This study was undertaken to establish a non-invasive prenatal genetic diagnosis method using isolated fetal nRBCs. A multi-step method including triple density gradient and magnetic activated cell sorting (MACS) using CD45 and CD71, cytospin centrifugation, K-B staining, and glycophorin A-immuno fluorescence in situ hybridization (GPA-immuno FISH) was performed. The study population included 65 patients from 8 to 41 weeks of gestation, and fetal nRBC was separated from all cases. The number of fetal nRBCs retrieved was 12.8 ± 2.7 in 8 to 11 gestational weeks, 15.2 ± 6.5 in 12 to 18 gestational weeks, 16.4 ± 6.5 in 19 to 23 gestational weeks, 10.6 ± 3.2 in 24 to 28 gestational weeks, and 5.5 ± 1.9 in 35 to 41 gestational weeks: the mean number of nRBCs collected from 20 ml of maternal peripheral blood was 13.7 ± 6.2. The highest value of yield was 45.6% from 12 to 18 weeks gestation. The fetal sex determination confirmed by amniocentesis or chorionic villus sampling showed 100% sensitivity and 91.7% specificity for males; 91.7% sensitivity and 100% specificity for females. We showed that fetal cells can be reliably enriched from maternal blood and that they can be used for detecting specific chromosomes by FISH with a specificity superior to current non-invasive methods.
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KEYWORD
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Prenatal diagnosis, fetal nRBC, density gradient, MACS, GPA-immuno FISH,
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