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Preimplantation genetic diagnosis of pericentric inversions
Author(s) -
Escudero Tomás,
Lee Michael,
Stevens John,
Sandalinas Mireia,
Munné Santiago
Publication year - 2001
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.171
Subject(s) - aneuploidy , preimplantation genetic diagnosis , biology , subtelomere , infertility , miscarriage , fluorescence in situ hybridization , chromosomal inversion , genetics , chromosome , pregnancy , karyotype , gynecology , medicine , gene
Inversions are structural chromosome abnormalities that may be associated with infertility, multiple miscarriage and chromosomally unbalanced offspring. Preimplantation genetic diagnosis (PGD) with subtelomeric probes was used to select for transfer only those embryos that were normal or balanced for three pericentric inversions. In contrast to previous protocols the present procedure allows the detection of unbalanced embryos that might arise from U‐recombination in the inverted region. Additionally, aneuploidy screening was carried out in two cases by a second round of fluorescent in situ hybridization (FISH) with centromeric probes. Of the three couples that underwent the procedure one became pregnant twice. The first pregnancy delivered a healthy and chromosomally normal baby and the second pregnancy is ongoing with triplets. Copyright © 2001 John Wiley & Sons, Ltd.