Early prenatal diagnosis of the ICF syndrome

The ICF syndrome (immunodeficiency, (para)centromeric instability and facia l abnormalities) is a rare autosomal recessive disorder with characteristic cytogenetic aberrations of chromosomes 1, 9 and 16 in lymphocytes. Previou sly, only one case has been diagnosed prenatally in the second trimester of pregnancy by fetal blood sampling. We report the first early prenatal excl usion of the ICF syndrome by chorionic villous sampling (CVS) and linkage a nalysis in a family with a previous affected child. The fetus was heterozyg ous for marker D20S850 closely linked to the ICF locus. The family was coun selled of a probability of over 90% that the fetus would be unaffected. Pos tnatal chromosome analysis on peripheral blood was normal and thus confirme d the prenatal diagnosis. Copyright (C) 2000 John Wiley & Sons, Ltd.