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Table 3 Constitutional and oncological cytogenetic analyses surveyed by SIGU since 2000

From: Survey of medical genetic services in Italy: year 2011

  Year
Type of tissue/analysis 2000 2002 2004 2007 2011
Prenatal cytogenetic tests Number
 Amniotic Fluid 77395 95729 101011 101750 97320
 Chorionic villi 9169 15159 18357 25691 25520
 Fetal blood 784 808 870 478 383
 Spontaneous abortions 2874 5231 6483 8415 5856
 Prenatal FISH   8643 20032 26331 2891a
 Rapid FISH for aneuploidies 4288
 Microarray (CGH and SNPs)    393 1862
 Total Prenatal tests 90222 125570 146753 163058 138120
Postnatal cytogenetic tests  
 Peripheral blood   65148 81153 8,478 69841
 Fibroblasts 493 1258 1184 811
 Other 213 502
 Postnatal FISH 4776 22999 22653 5819b
 Microarray (CGH and SNPs)    1443 8290
 Total Postnatal tests 49696 70630 105410 108758 85263
Oncological cytogenetic tests  
 Bone marrow   23445 27323 34500 31538
 Peripheral blood 2873
 Solid tumors 1671 2482
 Metaphase ish 8383 4112 6565 4142
 Interphase ish 27821
 Microarray (CGH and SNPs)     1916
 Total oncological cytogenetic tests 15948 33499 31435 41065 70772
TOTAL CYTOGENETIC TESTS 155866 229699 283598 312881 294155
  1. aFISH for microdeletion syndromes (897), subtelomeric regions (276), extra structurally abnormal chromosomes (599) and rearrangement (1119) characterization. bFISH for microdeletion syndromes (2662), subtelomeric regions (1186), extra structurally abnormal chromosomes (455) and rearrangement (1516) characterization