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Preconception and preimplantation diagnosis for cystic fibrosis
Author(s) -
Verlinsky Yury,
Rechitsky Svetlana,
Evsikov Serge,
White Melody,
Cieslak Jeanine,
Lifchez Aaron,
Valle Jorge,
Moise Jacob,
Strom Charles M.
Publication year - 1992
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.1970120205
Subject(s) - preimplantation genetic diagnosis , cystic fibrosis , blastomere , abortion , polar body , prenatal diagnosis , pregnancy , medicine , disease , genetics , obstetrics , gynecology , biology , embryo , fetus , pathology , embryogenesis , oocyte
Preimplantation diagnosis provides couples at high genetic risk the possibility of avoiding genetic disease without the need for prenatal diagnosis and selective abortion of the affected pregnancy. Following extensive background work on the reliability of genetic diagnosis in a single cell, we offered on a research basis preimplantation diagnosis to five couples at risk for offspring with the delta‐F508 mutation (the major mutation causing cystic fibrosis). There was no detrimental effect from polar body removal on either fertilization or preimplantation development. Genetic analysis, undertaken in 22 polar bodies and 15 corresponding blastomeres, identified 21 embryos of which ten were transferred.