BMJ  2006;332:668-669 (18 March), doi:10.1136/bmj.332.7542.668-c

Letter

Postnatal economic burden of limited karyotyping

The first 150 words of the full text of this article appear below.

EDITOR—Chitty et al suggest a strategy to identify chromosomal abnormalities that relies on quantitative fluorescent polymerase chain reaction (qf-PCR) and full karyotyping only in cases of fetal nuchal translucency thickness > 4 mm, as opposed to full karyotyping of all chorionic villous samples.1 Eliminating double testing results in an upfront economic savings of about £1.5m ({euro}2.17m; $2.50m) distributed across 17 479 pregnancies. However, such an approach has a failure rate of 1%, the economic consequences of which Chitty et al do not appreciate in their discussion.

The incremental lifetime economic cost incurred by an infant born with trisomy 21 is about £350 000 (adjusted for 2006 currency).2 Considering only chromosomally abnormal babies that came to term as well as those undetected by limited karyotyping, and given a reasonable termination rate of 70%, the six babies that would have been missed in the study alone represent an economic . . . [Full text of this article]

Suneel B Bhat, pre-medical student

sbhat@princeton.edu Princeton University, Princeton, NJ 08544, USA

Sanjay B Bhat, collaborator

Princeton University, Princeton, NJ 08544, USA

Jessica Stevens, chief paediatric resident

University of Medicine and Dentistry of New Jersey, New Jersey Medical School


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Relevant Article

Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study
Lyn S Chitty, Karl O Kagan, Francisca S Molina, Jonathan J Waters, and Kypros H Nicolaides
BMJ 2006 332: 452-455. [Abstract] [Full Text] [PDF]




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