Diagnosi prenatale di triploidia e trisomia 21 mediante arricchimento di eritroblasti fetali dal sangue materno

Translated title of the contribution: Prenatal diagnosis of fetal trisomies 21 and triploidy using fetal cells in the maternal circulation

A. Pezzolo, F. Santi, V. Pistoia, P. De Biasio

Research output: Contribution to journalArticlepeer-review

Abstract

Background. A long-sought goal of medical genetics has been the development of prenatal diagnostic procedures that do not endanger the conceptus. The safety of noninvasive methods for prenatal diagnosis would be especially attractive because they could be extended to all pregnant women, regardless of their ages or histories. Noninvasive prenatal diagnosis for the entire population might be possible recovering fetal cells from maternal blood. For this purpose, we have studied fetal erythroblasts. Materials and methods. To evaluate the potential of the method for clinical use, we studied maternal blood samples from 11 women referred to us for prenatal diagnosis between 15 and 20 weeks of gestation. For simple and effective enrichment of fetal nucleated erythrocytes from peripheral maternal blood, we combined a triple density gradient and magnetic-activated cell sorting (MACS) of anti- CD71 transferrin receptor antibody labeled cells. The isolated cells were analysed by using dual-colour interphase fluorescent in situ hybridization (FISH) with X -, Y -, 18 and 21 - specific DNA probes. Results. Chromosomal abnormalities detected on enriched fetal cells include trisomy 21 and triploidy. Conclusions. Based on the current results it is suggested that the technique described here is a simple, fast, efficient and reliable method for non invasive prenatal diagnosis.

Translated title of the contributionPrenatal diagnosis of fetal trisomies 21 and triploidy using fetal cells in the maternal circulation
Original languageItalian
Pages (from-to)393-399
Number of pages7
JournalMinerva Medica
Volume88
Issue number10
Publication statusPublished - 1997

ASJC Scopus subject areas

  • Medicine(all)

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