Which types of preconception genetic screening should be carried out?

Vialard, Francois

Which types of preconception genetic screening should be carried out? - 2022.


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Technological advances now make it possible to envisage preconception screening for the most common incurable genetic diseases in the general population. There are currently many obstacles to its implementation. The aim of this article is to enable the reader to form his or her own opinion. To do this, a reminder of the fundamental bases of genetics will be given to help understand the usefulness (or otherwise) of this screening. Then, a history of the genetic screening practices implemented in France and elsewhere in the world will be detailed, adding a comparison with neonatal screening. In the last part, a review will be made of the studies carried out following the use of preconception screening and of the therapeutic and genetic advances of the years to come.

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