Les tests non invasifs en période prénatale : avantages et limites (notice n° 1028647)

détails MARC
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control field 20250125171852.0
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 Chatron, N.
Relator term author
245 00 - TITLE STATEMENT
Title Les tests non invasifs en période prénatale : avantages et limites
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Date of publication, distribution, etc. 2016.<br/>
500 ## - GENERAL NOTE
General note 3
520 ## - SUMMARY, ETC.
Summary, etc. Depuis sa découverte à la fin des années 1990, l’ADN fœtal libre circulant dans le plasma maternel a permis le développement de tests prénataux non invasifs. Parmi les tests entrés dans la pratique courante, la détermination du sexe fœtal et le génotypage RHD (rhésus D) sont des examens de diagnostic fondés sur la détection de séquences normalement absentes du génome maternel. La recherche non invasive de trisomie 21 fœtale est un test de dépistage de très haute performance qui repose sur le comptage chromosomique par séquençage haut débit. Ces tests contribuent à améliorer la prise en charge des patientes en diminuant le nombre de prélèvements invasifs et de fausses couches iatrogènes et en permettant de mieux cibler des traitements lourds. Cependant, il est nécessaire de prendre en compte leurs limites qui relèvent notamment de la proportion d’ADN fœtal circulant dans le plasma (fraction fœtale), de l’origine trophoblastique de l’ADN fœtal circulant et de la possible interférence du génome maternel.
520 ## - SUMMARY, ETC.
Summary, etc. Since its discovery, in the late 1990s, free fetal circulating DNA in maternal plasma has enabled the development of noninvasive prenatal tests. Among tests used in current practice, fetal sex determination and RHD genotyping are diagnostic tests based on the detection of sequences usually absent in maternal genome. Noninvasive detection of trisomy 21 is a high-performance screening test based on chromosome counting by next-generation sequencing. These tests contribute to improve the quality of care by reducing the number of invasive fetal sampling and iatrogenic miscarriages, and allowing better targeting of therapeutic treatment. However, their limits should be taken into account, namely the proportion of fetal circulating DNA in plasma (fetal fraction), the trophoblastic origin of fetal DNA, and the possible interference of maternal genome.
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element ADN fœtal circulant
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element Rhésus
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element Dépistage
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element Diagnostic prénatal
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element Sexe fœtal
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element Trisomie 21
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element Non-invasif
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element Prenatal diagnosis
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element Rhesus
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element Fetal circulating<br/>DNA
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element Fetal sex
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element Trisomy 21
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element Screening
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element Noninvasive<br/>testing
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Sanlaville, D.
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Schluth-Bolard, C.
Relator term author
786 0# - DATA SOURCE ENTRY
Note Revue de Médecine Périnatale | 8 | 1 | 2016-03-16 | p. 3-8 | 2678-6524
856 41 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://shs.cairn.info/revue-de-medecine-perinatale-2016-1-page-3?lang=fr&redirect-ssocas=7080">https://shs.cairn.info/revue-de-medecine-perinatale-2016-1-page-3?lang=fr&redirect-ssocas=7080</a>

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