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Published on: June 25, 2010
[Maternal serum markers profiles for Down syndrome: Review of comments and actionable recommendations]
Gilles Renom1, Magali Pettazzoni2, Jean Guibourdenche3
1Laboratoire de dépistage périnatal, centre de biologie pathologie génétique, CHU, CS 70002, 59037 Lille cedex, France.
Abstract:
In France, for the vast majority of patients, screening for Down syndrome using circulating cell-free fetal DNA is contingent upon prior assessment of maternal serum markers and calculation of a specific risk estimate for this aneuploidy. Certain marker profiles may also suggest other fetal or maternal pathologies. This article therefore aims: (i) to clarify and explain any comments that may appear in laboratory reports; (ii) to propose a clinical interpretation and a procedure to be followed for the monitoring of the considered pregnancy. It updates a first article published in 2014 and, like its predecessor, reflects broad consensus among the biologists authorised to perform this screening.
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