Neonatologia
Quando l’amnios si rompe troppo presto e… da solo
When the amnion breaks too soon and... alone
Gregorio Serra1, Vincenzo Antona1, Antonio Corsello2, Federica Li Pomi3, Maria Rosaria La Bianca4, Giovanni Corsello1
1Dipartimento Materno-Infantile, Università di Palermo; 2Scuola di Specializzazione in Pediatria, Università di Milano; 3Scuola di Specializzazione in Dermatologia, Università di Messina; 4UOC di Pediatria, Azienda Sanitaria Provinciale di Trapani
Giugno 2022 - pagg. 387 -389 | DOI: 10.53126/MEB41387
Abstract
Rupture of the amniochorionic membranes is a recognized risk factor in the second and third trimester for chorioamnionitis, sepsis and preterm delivery. The isolated rupture of amnion is conversely responsible for a malformation spectrum known as early amnion rupture sequence or ADAM (Amniotic Deformity, Adhesions, Mutilations) complex, characterized by asymmetrical congenital anomalies, including limb reduction and craniofacial defects, usually arising during the 2nd or 3rd trimester of gestation. The paper reports the case of a 4-month-old infant who was referred for genetic counselling in the suspicion of malformation syndrome with asymmetrical limb reduction defects. The present case underlines how a suggestive obstetric history, together with a detailed evaluation of the phenotype (exclusion of anomalies of other organs and systems), allows the correct diagnosis to be made and adequate genetic counselling to be provided. The latter must include the sensitive and relevant process of diagnosis communication (even more difficult in case of unexpected diagnosis at birth), in which clinicians should support and guide parents towards the path of care, providing clinical information both on recurrence risk and functional prognosis.
Riassunto
La rottura delle membrane amniocoriali è un fattore di rischio riconosciuto nel secondo e terzo trimestre di corioamnionite, sepsi e parto pretermine. La rottura isolata dell'amnios è al contrario responsabile di uno spettro di malformazioni noto come sequenza di rottura dell'amnios precoce o complesso ADAM (Amniotic Deformity, Adhesions, Mutilation), caratterizzato da anomalie congenite asimmetriche, tra cui riduzione degli arti e difetti craniofacciali, che insorgono solitamente durante il 2° o 3° trimestre di gestazione. L'articolo riporta il caso di un bambino di 4 mesi che è stato sottoposto a consulenza genetica per sospetto di sindrome malformativa con difetti di riduzione asimmetrica degli arti. Nel corso di gravidanze difficili e con fattori di rischio multiplo (età avanzata, obesità, diabete, amniocentesi) il riscontro anche occasionale e isolato di oligoidramnios va considerato un potenziale marcatore di rottura precoce e isolata dell’amnios, e deve imporre un’attenta valutazione clinica ed ecografica delle strutture fetali. Il piano assistenziale deve essere individualizzato e multidisciplinare sin dall’epoca neonatale e centrato sugli aspetti diagnostici e sulla prognosi funzionale a distanza.
Classificazione MeSH
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Bibliografia
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Corrispondenza: giocors@alice.it