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Complete discrepancy between abnormal fetal karyotypes predicted by QF‐PCR rapid testing and karyotyped cultured cells in a first‐trimester CVS
Author(s) -
Waters Jonathan J.,
Walsh Sally,
Levett Lisa J.,
Liddle Stuart,
Akinfenwa Yinka
Publication year - 2006
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.1519
Subject(s) - karyotype , conceptus , trisomy , aneuploidy , monosomy , biology , chromosome , fetus , cytogenetics , genetics , microbiology and biotechnology , andrology , gynecology , pregnancy , medicine , gene
A chorion villus sample (CVS) biopsied at 11 weeks' gestation for raised nuchal translucency, revealed monosomy X (presumptive 45,X karyotype) by QF‐PCR for rapid aneuploidy testing for chromosomes 13, 18, 21, X and Y. Long‐term culture gave the karyotype: 47,XY,+ 21[66]/49,XYY,+ 21,+ 21 [22]. This discrepancy prompted redigestion of the combined residual villus fragments from the original QF‐PCR assay. The repeat QF‐PCR assay identified the presence of trisomy 21 and a Y chromosome consistent with a 47,XY,+ 21 karyotype. A double non‐disjunction event early in embryogenesis in a 47,XY,+ 21 conceptus with subsequent cell lineage compartmentalisation of the three observed cell lines (45,X; 47,XY,+ 21 and 49,XYY,+ 21,+ 21) would account for these results. This is the first reported case to describe complete discrepancy at diagnosis between abnormal karyotypes detected by QF‐PCR rapid aneuploidy testing and a cultured karyotype in the same CVS. Copyright © 2006 John Wiley & Sons, Ltd.