BMJ  2006;332 (25 February), doi:10.1136/bmj.332.7539.0-b

Use a combined strategy in prenatal chromosomal diagnostics

A combined strategy where quantitative fluorescent polymerase chain reaction (qf-PCR) is used in all pregnancies screened for trisomy 21 and full karyotyping is reserved only for those with increased fetal nuchal translucency thickness would be sensitive and cost effective. Lund and colleagues (p 452) analysed more than 17 000 chorionic villous samples (taken after measurement of fetal nuchal translucency thickness) by full karyotyping and by qf-PCR for chromosomes 13, 18, 21, X, and Y. They found that this strategy identified 99% of important chromosomal abnormalities and cost 60% less than karyotyping everyone.

Credit: L WILLAT/SPL

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