Non-invasive screening for down syndrome when economics take precedence over ethics

Publié le 11 Nov, 2014

Jean-Yves Nau, journalist and doctor, refers to the announcement made by the CERBA Laboratory, which recently published the results of its SEHDA study. The aim of this study was to highlight the reliability of its non-invasive screening method for Down Syndrome (Gènéthique press review on October 1st, 2014). Instead of implementing a combined [1] screening programme, the laboratory, which finds itself in a monopoly situation, has launched a non-invasive method on the market.  This technique “involves analysing fragments of foetal DNA – DNA fragments present in maternal blood throughout pregnancy”.


Jean-Yves Nau highlights the financial issues that dictate the development of this type of screening (“85% of pregnant women agree to participate in this screening programme”), and the problems of “two-tiered screening” (€650 for the test),  with the risk of eugenics, especially through potential reimbursement by Social Security.


“Since this study has been carried out, the question of reimbursement remains for hospitals and institutions”. For the time being, only combined screening is reimbursed by mandatory health insurance. But what will happen in the future? The author questioned the Ministry for Health and Social Affairs about this new test and cited the response he obtained. “Progress in the field of prenatal diagnostics has been made within a few years. The analysis of foetal DNA circulating in the maternal blood gives a more accurate indication than amniocentesis – an invasive technique that can cause miscarriage – in pregnant women at risk of foetal Down Syndrome (in particular). The Ministry in charge of Health has monitored this progress very carefully since 2012.


In order to promote the use of this new technique across France, its diagnostic performance should be confirmed and indications specified. It should also be made accessible to all women who wish to adopt this approach, regardless of income”.


It should be remembered that the Ministry asked for the opinion of the CCNE (French National Consultative Ethics Committee), which was favourable, and announced that it would refer to the conclusions drawn by HAS (French National Health Authorities) with regard to considering “reimbursement of this test by mandatory Health Insurance”.  The French Health Authority will give its decision following the publication of the results of a study scheduled to be carried out in the spring of 2015.


Finally, Jean-Yves Nau invites thoughts and comments on a test that “may be perceived as a new phase, irreversibly paving the way towards thorough, systematic analysis of the foetal genome”.


Gènéthique Note:

For further information on NIPS (non-invasive prenatal screening), read the article entitled, “Gènéthique vous informe”:

Avis du CCNE, arrêté ministériel…les personnes trisomiques 21 seraient-elles une cible nationale? (Decision of the CCNE, Ministerial Decree – are people with Down syndrome set to become a national target?)


[1] Combined screening for Down syndrome combines targeted ultrasound scans with blood tests of certain serum markers. It is completed by additional invasive tests (amniocentesis) once the risk of Down syndrome exceeds a certain threshold (1/250). Amniocentesis is responsible for 200 miscarriages each year. 

Blog de Jean-Yves Nau 12/11/2014

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