Résumé
Une femme de 35 ans a été orientée vers des spécialistes en génétique en raison de
la présence de 2 marqueurs faibles en plus d’un hydramnios. La patiente et son conjoint
étaient mennonites du Vieil Ordre, et des tests de porteurs ont permis une évaluation
ciblée des syndromes associés à l’hydramnios dans cette population. Les deux parents
étaient porteurs d’une délétion de 7 304 pb du gène STRADA (LYK5), laquelle cause un syndrome autosomique récessif d’hydramnios, de mégalencéphalie
et d’épilepsie symptomatique. Ce constat a permis la détection et le traitement précoces
des convulsions néonatales. Les tests ciblés peuvent réduire considérablement l’errance
diagnostique et le coût des analyses, une considération particulièrement importante
pour les familles qui refusent l’assurance maladie.
Mots clés
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Références
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Article info
Publication history
Accepted:
January 19,
2022
Received:
May 12,
2021
Footnotes
Divulgations : Les auteurs déclarent qu’ils n’ont rien à divulguer.
Tous les auteurs indiquent satisfaire aux exigences de la revue pour être désignés comme tels.
Identification
Copyright
© 2022 The Society of Obstetricians and Gynaecologists of Canada/La Société des obstétriciens et gynécologues du Canada. Published by Elsevier Inc. All rights reserved.
ScienceDirect
Access this article on ScienceDirectLinked Article
- Clinical Conundrum: Polyhydramnios as a Marker for a Fetal Genetic Syndrome in the Canadian Old Order Mennonite PopulationJournal of Obstetrics and Gynaecology Canada Vol. 44Issue 7
- PreviewA 35-year-old woman was referred to genetics for 2 soft markers but was also found to have polyhydramnios. The couple were Old Order Mennonite, and carrier testing allowed for targeted investigation of syndromes associated with polyhydramnios in this population. Both parents were carriers of a 7304 bp deletion in the STRADA (LYK5) gene, causing an autosomal recessive syndrome of polyhydramnios, megalencephaly, and symptomatic epilepsy. This led to early recognition and treatment of neonatal seizures.
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