False‐positive diagnosis of trisomy 21 using fluorescence  in situ  hybridisation (FISH) on uncultured amniotic fluid cells | Zendy

George Alice M. | Zendy; Oei Paul | Zendy; Winship Ingrid | Zendy

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False‐positive diagnosis of trisomy 21 using fluorescence in situ hybridisation (FISH) on uncultured amniotic fluid cells

Author(s) -

George Alice M.,

Oei Paul,

Winship Ingrid

Publication year - 2003

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.587

Subject(s) - amniocentesis , amniotic fluid , trisomy , fluorescence in situ hybridization , aneuploidy , biology , karyotype , in situ , metaphase , microbiology and biotechnology , hybridization probe , prenatal diagnosis , chromosome , pathology , andrology , fetus , genetics , dna , pregnancy , chemistry , medicine , gene , organic chemistry

An amniocentesis was performed on a 22‐week pregnancy following the detection of foetal abnormalities on ultrasound. A rapid aneuploid screen using fluorescence in situ hybridisation on uncultured amniotic fluid cells revealed 3 signals for chromosome 21, consistent with trisomy 21. In situ metaphase cultures revealed a 46,XY normal male karyotype. These discordant results may be explained by a sub‐standard batch of the commercially available probe or alternatively, a very specific variation within the sample interacting with the probe. Alternative strategies are proposed in order to safeguard against inappropriate clinical action as a consequence of discordant results. Copyright © 2003 John Wiley & Sons, Ltd.

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