Σύνδρομο Εdwards

Edwards Syndrome

Σύνδρομο Edwards είναι η τρισωμία 18, με ένα επιπλέον χρωμόσωμα 18 αντί για το συνηθισμένο ζευγάρι. Πρόκειται για μια σοβαρή διαταραχή που μπορεί να επηρεάσει όλα τα όργανα του σώματος.

Γενετική
Μωσαϊκισμός μπορεί να συμβεί σε περίπου 5% των περιπτώσεων στις οποίες κάποια κύτταρα είναι φυσιολογικά με 46 χρωμοσώματα και άλλα έχουν το επιπλέον χρωμόσωμα. Μερική τρισωμία 18 μπορεί (σπάνια) να προκύψει, εάν ένα τμήμα του χρωμοσώματος 18 είναι παρών σε τρία αντίτυπα, συνήθως οφείλεται σε μια ισορροπημένη μετατόπιση που μεταφέρεται από τον ένα γονέα. Τα βρέφη με μωσαϊκισμό και μερική τρισωμία τείνουν να πάσχουν λιγότερο σοβαρά.

Επιδημιολογία
• Η τρισωμία 18 είναι η δεύτερη πιο κοινή αυτοσωματικά τρισωμία μεταξύ των γεννηθέντων ζώντων παιδιών μετά την τρισωμία 21.
• Η επίπτωση είναι 1 στις 6.000 γεννήσεις ζώντων νεογνών.
• Σε γεννηθέντα ζωντανά βρέφη, είναι πιο πιθανό το βρέφος να είναι θηλυκό και όχι αρσενικό. Αυτό πιστεύεται ότι οφείλεται στο γεγονός ότι τα αρσενικά έμβρυα με τρισωμία 18 είναι πιο πιθανό να πεθάνουν ενδομήτρια.

Παράγοντες κινδύνου
• Ένα ατομικό ή οικογενειακό ιστορικό συμβάλλει, αυξάνοντας τον κίνδυνο να γεννηθεί ένα πάσχων παιδί.
• Ο κίνδυνος αυξάνει με την ηλικία της μητέρας.

Παρουσίαση
Έως 95% των εμβρύων με τρισωμία 18 πεθαίνουν.
Κατά την προγεννητική περίοδο μπορεί να υπάρχουν:

  • πολυδράμνιο (αυξημένο αμνιακό υγρό)
  • ολιγάμνιο (μειωμένο αμνιακό υγρό)
  • μικρός πλακούντας
  • μονήρης ομφαλική αρτηρία
  • ενδομήτρια καθυστέρηση της ανάπτυξης
  • ασθενής δραστηριότητα εμβρύου
  • δυσχέρεια εμβρύου

Χαρακτηριστικά που μπορεί να παρατηρηθούν μετά τη γέννηση περιλαμβάνουν:

  • χαμηλό βάρος κατά τη γέννηση
  • κρανιοπροσωπικές ανωμαλίες:
    Αυτιά χαμηλής πρόσφυσης
    Μικρογναθία (μικρό σαγόνι).
    Χαρακτηριστικά του προσώπου, π.χ. μικροφθαλμία.
    Μικροκεφαλία.
    Λαγώχειλο και το λυκόστομα.
  • σκελετικές ανωμαλίες:
    Χαρακτηριστική στάση των χεριών. Απλασία αντίχειρα. Υποπλασία ή απλασία της κερκίδας.  Υποπλαστικά νύχια. Ευδιάκριτη πτέρνα (rocker bottom feet).
  • συγγενείς ανωμαλίες της καρδιάς:> 90% έχουν αυτά, π.χ. μεσοκολπική επικοινωνία, μεσοκοιλιακή επικοινωνία, ανοικτός αρτηριακός πόρος, στένωση του ισθμού της αορτής.
  • γαστρεντερικές ανωμαλίες: π.χ. ομφαλοκήλη, ατρησία οισοφάγου ± τραχειο-οισοφαγικό συρίγγιο, λώρο ή βουβωνοκήλη.
  • ουρογεννητικού ανωμαλίες: π.χ. δυσγενεσία γονάδων, κρυψορχία, κλειτοριδομεγαλία, πεταλοειδής νεφρός, υδρονέφρωση, πολυκυστικούς νεφρούς, νεφρική αγενεσία.
  • Νευρολογικά προβλήματα: ανεγκεφαλία, υδροκεφαλία και άλλες δυσπλασίες του εγκεφάλου, σοβαρή μαθησιακή δυσκολία, νεογνική υποτονία που ακολουθείται από κατασχέσεις υπερτονία και νευρικότητα.
  • πνευμονική υποπλασία.

Η διαφορική διάγνωση
• Τα σύνδρομα Edwards και Patau μπορεί να έχουν παρόμοια χαρακτηριστικά και να είναι δύσκολο να διαφοροποιηθούν.

Έρευνες και διαχείριση
• Κυτταρογενετική μελέτες και χρωμοσωμική ανάλυση θα επιβεβαιώσουν τη διάγνωση.
• Εξέταση ανατομίας και οργάνων π.χ. υπερηχοκαρδιογράφημα για καρδιακές ανωμαλίες.
• Η θεραπεία για ένα ζωντανό βρέφος είναι γενικά υποστηρικτική.

Πρόγνωση
• Το προσδόκιμο ζωής είναι 4 ημέρες. Ωστόσο, περίπου το 5-10% επιβιώνουν πέραν του ενός έτους.
• Τα νεογνά έχουν 40% πιθανότητα επιβίωσης σε ηλικία 1 μηνός.
• Τα βρέφη έχουν ένα 5% πιθανότητα επιβίωσης στην ηλικία του 1 έτους.
• Τα παιδιά έχουν 1% πιθανότητα επιβίωσης σε ηλικία 10 ετών.
• Ο θάνατος συνήθως οφείλεται σε σοβαρή καρδιακή, νεφρική ανεπάρκεια ή σε δυσπλασία του κεντρικού νευρικού σύστηματος ή σε δυσκολία σίτισης.

Παρακολούθηση και παροχή συμβουλών
Οι γονείς θα χρειαστούν μεγάλη υποστήριξη και παροχή συμβουλών.
• Αν το σύνδρομο Edwards οφείλεται σε μια μη-ισοζυγισμένη μετάθεση, και οι δύο γονείς θα πρέπει να υποβληθούν σε χρωμοσωμική ανάλυση. Μπορεί να είναι ότι η μετατόπιση στο βρέφος παρατηρήθηκε de novo, αλλά μια ισορροπημένη μετατόπιση μπορεί να βρεθεί σε έναν από τους γονείς. Αυτό έχει σημασία για τις μελλοντικές εγκυμοσύνες. Άλλα μέλη της οικογένειας μπορεί επίσης να επηρεαστούν.
• Εξέταση και προγεννητική διάγνωση θα πρέπει να προσφέρεται για μελλοντικές εγκυμοσύνες.
• Για πλήρη τρισωμία 18, ο κίνδυνος της υποτροπής σε μια μελλοντική εγκυμοσύνη είναι λιγότερο από 1 %. Ο κίνδυνος μπορεί να είναι υψηλότερος αν ένας γονέας φέρει μια ισοζυγισμένη μετάθεση. Παραπομπή θα πρέπει να γίνει σε ένα γενετιστή ανάλογα με την περίπτωση.
• Ο έλεγχος που διεξάγεται σήμερα για το σύνδρομο Down μπορεί να βοηθήσει να εντοπιστούν όχι μόνο τα έμβρυα που διατρέχουν κίνδυνο για σύνδρομο Down αλλά και εκείνα που διατρέχουν κίνδυνο για τρισωμία 13 και 18.
• Μια πρόσφατη μελέτη για τρισωμία 18, χρησιμοποιώντας την ηλικία της μητέρας, την εμβρυϊκή αυχενική διαφάνεια, την ελεύθερη β – χοριακή γοναδοτροπίνη ( β- hCG) και τη σχετιζόμενη με την κύηση πρωτεΐνη πλάσματος -Α, παράλληλα με δοκιμασία διαλογής για τρισωμία 21 έδειξε ότι ανιχνεύθηκαν περισσότερο από το 95 % των εμβρύων με τρισωμία 18.
• Υπερηχογράφημα: τυπικές δομικές ανωμαλίες μπορούν να ανιχνευθούν σε προγεννητικό υπερηχογράφημα και μπορεί να αυξήσει την υποψία του συνδρόμου Edwards. Παραδείγματα περιλαμβάνουν ανωμαλία χεριού / δακτύλων, κύστες χοριοειδούς πλέγματος, καρδιακές ανωμαλίες. Ένα δευτέρου τριμήνου υπερηχογράφημα για ανατομικό έλεγχο φαίνεται να είναι μια καλή μέθοδος ανίχνευσης.

Προγεννητική διάγνωση
• Η αμνιοπαρακέντηση ή λήψη τροφοβλάστης είναι απαραίτητη για να γίνει μια οριστική προγεννητική διάγνωση .
• Κυτταρογενετική μελέτη εμβρυϊκού αίματος μπορεί επίσης να πραγματοποιηθεί.
 

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