Diagnosi prenatale in 26 feti a rischio per immunodeficienze primitive severe

Translated title of the contribution: Prenatal diagnosis in 26 fetuses at-risk for severe primary immune deficiencies

A. Cominotti, S. Giliani, S. Zucca, D. Brugnoni, P. Airò, F. Candotti, M. Fiorini, P. Mella, R. Badolato, R. F. Schumacher, F. Guandalini, D. Bellotti, F. Lalatta, D. Torcoli, L. D. Notarangelo

Research output: Contribution to journalArticlepeer-review


Genetic counseling and prenatal diagnosis are an important part of the general approach to families with severe immune deficiency. Over the years, several techniques have been developed for prenatal diagnosis of immune deficiency, based on immunophenotypic and functional tests, or more recently on molecular assays. We report the five-year experience of the Dept. of Pediatrics, University of Brescia: out of 26 fetuses at-risk for immunodeficiency, 7 were identified as affected by prenatal diagnosis. In three cases, as opposed to elective abortion, the couple decided for continuation of the pregnancy; in one case a bone marrow transplantation was performed at one month of life, whereas two fetuses were treated by in-utero bone marrow transplantation. Therefore, in addition to early detection of affected fetuses, prenatal diagnosis of primary immune deficiencies also allows timely planning of adequate therapeutic strategies.

Translated title of the contributionPrenatal diagnosis in 26 fetuses at-risk for severe primary immune deficiencies
Original languageItalian
Pages (from-to)117-121
Number of pages5
JournalRivista Italiana di Pediatria
Issue number1
Publication statusPublished - 1998

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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