Preimplantation genetic diagnosis of pericentric inversions

Inversions are structural chromosome abnormalities that may be associated w ith infertility, multiple miscarriage and chromosomally unbalanced offsprin g. Preimplantation genetic diagnosis (PGD) with subtelomeric probes was use d to select for transfer only those embryos that were normal or balanced fo r three pericentric inversions. In contrast to previous protocols the prese nt procedure allows the detection of unbalanced embryos that might arise fr om U-recombination in the inverted region. Additionally, aneuploidy screeni ng was carried out in two cases by a second round of fluorescent in situ hy bridization (FISH) with centromeric probes. Of the three couples that under went the procedure one became pregnant twice. The first pregnancy delivered a healthy and chromosomally normal baby and the second pregnancy is ongoin g with triplets. Copyright (C) 2001 John Wiley & Sons, Ltd.