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An improved method for the detection of Down's syndrome aneuploidy in uncultured amniocytes
Author(s) -
Pierluigi M.,
Perfumo C.,
Cavani S.,
Lehrach H.,
Nizetic D.,
Bricarelli F. Dagna
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb04321.x
Subject(s) - aneuploidy , cosmid , trisomy , down syndrome , microbiology and biotechnology , biology , prenatal diagnosis , genetics , computational biology , gene , fetus , chromosome , pregnancy
We report a modified method for the rapid detection of aneuploidies directly on human uncultured amniocytes that simplifies and shortens the entire experimental procedure, yielding signals which allow correct diagnosis of trisomy 21 in 97% of cases. The improvement is based on two points: 1) use of cosmid pockets specific for the Down's syndrome minimal region as FISH probes, and 2) a modified protocol for the fixation and preparation of amniocytes.