Αμνιοπαρακέντηση

Τι είναι η αμνιοπαρακέντηση

Η αμνιοπαρακέντηση είναι μια εξειδικευμένη διαγνωστική επεμβατική εξέταση που περιλαμβάνει την αφαίρεση ενός μικρού ποσού (συνήθως περίπου 15-20ml) του αμνιακού υγρού από το σάκο που περιβάλλει το έμβρυο στη μήτρα. Βάσει της εξέτασης αυτής, το υγρό, το οποίο περιέχει τις εκατοντάδες των κυττάρων από το δέρμα του μωρού, μπορεί να εξεταστεί σε ένα εργαστήριο, για χρωμοσωμικές ανωμαλίες όπως το σύνδρομο Down.

 
Πώς γίνεται;

Μια λεπτή βελόνα διέρχεται μέσω της κοιλιάς της μητέρας εντός της μήτρας, υπό την καθοδήγηση υπερήχων, και ένα δείγμα του αμνιακού υγρού, που περιβάλλει το μωρό, αφαιρείται και αποστέλλεται στο εργαστήριο για έλεγχο. Η διαδικασία διαρκεί λιγότερο από ένα λεπτό και στη συνέχεια, ο εμβρυϊκός καρδιακός παλμός ελέγχεται για να δούμε αν είναι φυσιολογικός.

Χρησιμοποιείται τοπικό αναισθητικό;
Τοπικό αναισθητικό δεν χρησιμοποιείται με αυτή τη διαδικασία. Η βελόνα για την αναισθησία συνήθως προκαλεί περισσότερη ταλαιπωρία από την αμνιοκέντηση.

Γιατί γίνεται;

• Για τη διάγνωση χρωμοσωμικών ανωμαλιών όπως το σύνδρομο Down, μετρώντας τον αριθμό των χρωμοσωμάτων.

• Για τη διάγνωση τυχόν κληρονομικών διαταραχών που το μωρό μπορεί να είναι σε κίνδυνο (π.χ. κυστική ίνωση).

 

 

 

• Για να αφαιρέσουμε το υπερβολικά αυξημένο αμνιακό υγρό, ή να ψάξουμε για λοίμωξη (π.χ. Τοξοπλάσμωση) στην αμνιακή κοιλότητα.
• Το φύλο του μωρού μπορεί επίσης να προσδιοριστεί, και αυτό είναι σημαντικό για παθήσεις που συνδέονται με κληρονομικές διαταραχές.

Παρακαλώ σημειώστε ότι δεν προσφέρουμε την αμνιοπαρακέντηση απλά για να μάθετε το φύλο του μωρού. Η αμνιοπαρακέντηση δεν ανιχνεύει κάθε είδους ανωμαλία, για παράδειγμα, δεν μπορεί να πει στον ασθενή, εάν το μωρό έχει ένα λυκόστομα, δισχιδή ράχη.

Ποιοι είναι οι κίνδυνοι;
Υπάρχει 1% πιθανότητα αποβολής μετά από μια επεμβατική εξέταση. Τραυματισμός στο έμβρυο κατά τη διάρκεια αμνιοπαρακέντησης είναι σπάνιος. Συνεχής παρακολούθηση υπερήχων χρησιμοποιείται κατά την εισαγωγή της βελόνας αμνιοκέντησης. Λαμβάνεται μέριμνα ώστε να αποφευχθεί η βελόνα να είναι κοντά στο μωρό.

Πόσο σύντομα μπορεί να αντικατασταθεί το αμνιακό υγρό;
Το μωρό δημιουργεί το αμνιακό υγρό με την ούρηση. Μέσα σε λίγες ώρες η ποσότητα αμνιακού υγρού που έχει αφαιρεθεί αντικαθίσταται.

Πότε πραγματοποιείται;
Για αναπτυξιακούς και γενετικούς λόγους, η αμνιοπαρακέντηση εκτελείται στις 16 εβδομάδες και όχι πριν, διότι ο κίνδυνος αποβολής είναι υψηλότερος.

 
Πονάει η αμνιοπαρακέντηση;

Η δυσφορία είναι ελάχιστη, αν και μερικοί ασθενείς βιώνουν πόνο καθώς η βελόνα διέρχεται μέσω της μήτρας. Οι ασθενείς μπορεί να εμφανίσουν ήπιες κράμπες κατά την ημέρα της εξέτασης.

Πότε θα πάρω τα αποτελέσματα  της αμνιοπαρακέντησης;
Τα αποτελέσματα δίνονται σε δύο στάδια:

1) PCR (99%): (Τα αποτελέσματα δίδονται από εμάς τηλεφωνικά).
Το αποτέλεσμα PCR ανιχνεύει το σύνδρομο Down [τρισωμία 21], το σύνδρομο Edward [τρισωμία 18], το σύνδρομο Patau[τρισωμία 13] και ελαττώματα στο χρωμόσωμα του φύλου [δηλ. Σύνδρομο Turner].
Το αποτέλεσμα PCR δίνεται σε 2-3 εργάσιμες ημέρες.

2) Πλήρης καλλιέργεια(100%) : το αποτέλεσμα αυτό (το σύνολο των χρωμοσωμάτων) είναι διαθέσιμο σε 2 περίπου εβδομάδες.

 

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