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Vers une généralisation du diagnostic prénatal non-invasif des maladies monogéniques ? État des lieux et perspectives.

Auteurs : Verebi C1, Gravrand V2, Pacault M3, Audrezet MP3, Couque N4, Vincent MC5, Leturcq F2, Tsatsaris V6, Bienvenu T1, Nectoux J2
Affiliations : 1Service de Médecine Génomique des Maladies de Système et d'Organe, Fédération de Génétique et de Médecine Génomique, APHP.Centre - Université Paris Cité, Hôpital Cochin, 75014 Paris, France; Université de Paris Cité, Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM UMR1266, « Genetic vulnerability to addictive and psychiatric disorders » team, Paris, France.2Service de Médecine Génomique des Maladies de Système et d'Organe, Fédération de Génétique et de Médecine Génomique, APHP.Centre - Université Paris Cité, Hôpital Cochin, 75014 Paris, France.3Laboratoire de Génétique Moléculaire et d'Histocompatibilité, Centre Hospitalier Régional Universitaire, Brest, France.
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Date 2023 Octobre 28, Vol 51, Num 10, pp 463-470Revue : Gynécologie Obstétrique Fertilité & SénologieType de publication : revue de la littérature; résumé en anglais; article de périodique; DOI : 10.1016/j.gofs.2023.07.005
Résumé

The screening of fetal aneuploidies and non-invasive prenatal diagnosis of monogenic diseases (NIPD-MD) both rely on the study of free fetal DNA in maternal circulation, but their respective rise was unequal. Development of NIPD-MD has taken longer as it represents a less attractive commercial dynamic for industry, but also because it usually involves the development of tailored tests specific to each pathogenic variant.We have carried out a state of the art on the various indications and technologies involved in the use of NIPD-MM. We present its current implementation and its development in France.To date, NIPD-MD has been routinely offered in France for several years by the laboratories of the French NIPD-MD network but remains mostly limited to the exclusion of paternal or de novo variants, the exclusion DPNI-MD. Indeed, it is still difficult to study the transmission of maternal variants from circulating free DNA analysis, due to its biological complexity: coexistence and predominance of similar DNA sequences of maternal origin. Different strategies, either direct or indirect, are being evaluated to establish fetal status regardless of the parental origin of the disease or its transmission mode. The emergence of commercial screening solutions for monogenic diseases complements the arsenal of prenatal exploration tools for these diseases.The multitude of existing technologies and protocols may complicate the information provided during antenatal consultations, but mastery of know-how and knowledge of ethical issues of NIPD-MD will ensure optimal service and better management of pregnancies at risk of transmitting monogenic disease.

Mot-clés auteurs
adn circulant; adn fœtal circulant; dpni-mm; diagnostic prénatal non invasif; maladies monogéniques; non-invasive prenatal diagnosis; sgd-nipd; cell-free dna; cell-free fetal dna; cffdna; single-gene disorders;
 Source : MEDLINE©/Pubmed© U.S National Library of Medicine
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Verebi C, Gravrand V, Pacault M, Audrezet M, Couque N, Vincent M, Leturcq F, Tsatsaris V, Bienvenu T, Nectoux J. Vers une généralisation du diagnostic prénatal non-invasif des maladies monogéniques ? État des lieux et perspectives. Gynécologie Obstétrique Fertilité & Sénologie. 2023 Oct 28;51(10):463-470.
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Dernière date de mise à jour : 07/10/2023.


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