Intended for healthcare professionals

Rapid response to:


Optimising prenatal diagnosis of Down's syndrome

BMJ 2006; 332 doi: (Published 23 February 2006) Cite this as: BMJ 2006;332:433

Rapid Response:

Re: Optimising prenatal diagnosis of Down's syndrome - full karyotyping contra-indicated for women referred solely for risk of Down's syndrome.

Caroline Ogilvie and colleagues are absolutely correct that the
sentence in our editorial about picking up 'more truly positive cases of
Down's syndrome' makes no sense. It was a post-proof change by BMJ
editorial staff, and we have already asked the BMJ to insert a note of
correction about this mistake. Ogilvie et al are probably also correct in
saying that if qf-PCR had been available during the 1960s, full
karyotyping would not have become the standard laboratory investigation
after amniocentesis or chorion villus sampling. It is also true that more
information is not always better (consider ultrasound detection of fetal
choroid plexus cysts) but we do strongly believe that pregnant women are
entitled to make (and capable of making) rational and informed decisions
about prenatal screening tests, invasive testing and, potentially, full

Competing interests:
None declared

Competing interests: No competing interests

03 March 2006
Jim Neilson
Professor of obstetrics & gynaecology
Zarko Alfirevic
University of Liverpool