Quel bilan génétique en préconceptionnel ? (notice n° 756318)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02564cam a2200313 4500500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250123100417.0 |
| 041 ## - LANGUAGE CODE | |
| Language code of text/sound track or separate title | fre |
| 042 ## - AUTHENTICATION CODE | |
| Authentication code | dc |
| 100 10 - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Vialard, Francois |
| Relator term | author |
| 245 00 - TITLE STATEMENT | |
| Title | Quel bilan génétique en préconceptionnel ? |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Date of publication, distribution, etc. | 2022.<br/> |
| 500 ## - GENERAL NOTE | |
| General note | 91 |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | 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 point of view 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 practices implemented in France and in the world on genetic screening will be made, adding a comparison with neonatal screening. In the last part, a review will be made of the studies carried out following the use of preconceptional screening and on the therapeutic and genetic advances of the next few years. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Les avancées technologiques permettent aujourd’hui d’envisager un dépistage préconceptionnel des pathologies génétiques incurables les plus fréquentes dans la population générale. De nombreux freins existent cependant, aujourd’hui, qui empêchent une l’implémentation de ce dépistage. L’objectif de cet article est de permettre au lecteur de se faire sa propre opinion sur ce sujet. Pour cela, nous donnerons en premier lieu un rappel sur les bases fondamentales de la génétique, afin de juger si ce dépistage est utile ou non. Un historique des pratiques mises en place, en France et dans le monde, sur le dépistage génétique sera ensuite présenté, ainsi qu’une comparaison avec le dépistage néonatal. La dernière partie fait un état des lieux des études réalisées suite à l’utilisation du dépistage préconceptionnel et des avancées thérapeutiques et génétiques des prochaines années. |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | SMN1 |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | drépanocytose |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | consanguinité |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | autosomiques récessifs |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | CFTR |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | Tay-Sachs |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | SMN1 |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | consanguinity |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | sickle cell disease |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | CFTR |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | Tay-Sachs |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | autosomal recessive |
| 786 0# - DATA SOURCE ENTRY | |
| Note | Médecine de la Reproduction | 24 | 4 | 2022-10-01 | p. 462-470 | 2650-8427 |
| 856 41 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://shs.cairn.info/revue-medecine-de-la-reproduction-2022-4-page-462?lang=fr&redirect-ssocas=7080">https://shs.cairn.info/revue-medecine-de-la-reproduction-2022-4-page-462?lang=fr&redirect-ssocas=7080</a> |
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