Α’ Τρίμηνο-Αυχενική Διαφάνεια

Αυχενική διαφάνεια είναι η υπερηχογραφική εμφάνιση υποδόριου συσσωρευμένου υγρού πίσω από τον εμβρυικό αυχένα κατά το πρώτο τρίμηνο της κύησης σε όλα τα έμβρυα. Το μέγεθος της εμβρυικής αυχενικής διαφάνειας αυξάνει φυσιολογικά με την ηλικία κύησης (μήκος εμβρύου – CRL). Όσο μεγαλύτερη είναι η μέτρηση της αυχενικής διαφάνειας τόσο μεγαλύτερος είναι ο κίνδυνος χρωμοσωμικών και δομικών ανωμαλιών στο έμβρυο.

Αυχενική διαφάνεια (εκατοστιαία θέση) Χρωμοσωμικές ανωμαλίες Εμβρυικός θάνατος Μείζονες ανωμαλίες Καρδιαγγειακές ανωμαλίες Έμβρυα υγειή/ ζώντα
<95th 0.2% 1% 1.5% 0.3% 97%
95th-99th 3.5% 1% 2.5% 0.5% 93%
3.5-4.4mm 20% 2.5% 10% 3% 70%
4.5- 5.4mm 33% 3.5% 20% 6.5% 50%
5.5- 6.4mm 50% 10% 25% 10% 30%

Αυτό το υπεηχογράφημα  πραγματοποιείται από 11 εβδομάδες και 1 ημέρα μέχρι 13 εβδομάδες και έξι ημέρες  (CRL 45mm – 84mm). Πραγματοποιείται συνήθως διακοιλιακά, αλλά σε μερικές περιπτώσεις μπορεί να είναι αναγκαίο να γίνει η εξέταση διακολπικά.

Στόχοι του υπερηχογραφήματος

  • Καθορίζεται η ακριβής ηλικία κύησης:  Αυτό είναι ιδιαίτερα σημαντικό για τις γυναίκες που δεν μπορούν να θυμηθούν την ημερομηνία της τελευταίας περιόδου τους, έχουν ακανόνιστη έμμηνο ρύση, ή που έχουν συλλάβει ενώ  θηλάζουν ή αμέσως μετά τη διακοπή του αντισυλληπτικού χαπιού. Μετράμε το μέγεθος του εμβρύου και από αυτό υπολογίζουμε την πιθανή ημερομηνία τοκετού (40 εβδομάδες).
  • Η αξιολόγηση  τους κινδύνου για το σύνδρομο Down και άλλες χρωμοσωμικές ανωμαλίες:  Κάθε γυναίκα θα πρέπει να λάβει μια εκτίμηση του ατομικού κινδύνου της για αυτήν την εγκυμοσύνη. Αυτό υπολογίζεται λαμβάνοντας υπόψη την ηλικία της μητέρας, τη μέτρηση δύο ορμονών στο αίμα της μητέρας και υπερηχογραφικούς δείκτες όπως η αυχενική διαφάνεια, το ρινικό οστό, η  ροή του αίματος μέσω της καρδιάς του εμβρύου και του φλεβώδους πόρου του εμβρύου (ένα μικρό αγγείο στο ήπαρ του εμβρύου). Οι γονείς θα λάβουν πλήρη παροχή συμβουλών σχετικά με τη σημασία αυτού του κινδύνου και τις διάφορες επιλογές για περαιτέρω δοκιμές.
  • Διάγνωση πολύδυμης κύησης: Περίπου το 2% των φυσικών συλλήψεων  και το 10% των IVF συλλήψεων οδηγούν σε πολύδυμη κύηση. Το υπερηχογράφημα μπορεί να καθορίσει αν και τα  δύο έμβρυα αναπτύσσονται κανονικά και αν τα μωρά μοιράζονται τον ίδιο πλακούντα, που μπορεί να οδηγήσει σε προβλήματα στην εγκυμοσύνη. Σε τέτοιες περιπτώσεις, θα ήταν σκόπιμο να παρακολουθείται  η εγκυμοσύνη στενότερα.
  • Η διάγνωση ορισμένων μείζονων συγγενών ανωμαλιών: Σημαντικές ανωμαλίες μπορεί να είναι ορατές σε αυτή την ηλικία κύησης, αλλά το υπερηχογράφημα 20 εβδομάδων είναι επίσης απαραίτητο.
  • Η διάγνωση της πρόωρης αποτυχίας της εγκυμοσύνης (παλίνδρόμηση):  Δυστυχώς, το 2% των γυναικών που προσέρχονται για το υπερηχογράφημα αυχενικής διαφάνειας διαπιστώνεται  ότι το έμβρυο έχει πεθάνει, συχνά αρκετές εβδομάδες πριν και χωρίς καμία προειδοποίηση. Τα ζευγάρια θα λάβουν πλήρη παροχή συμβουλών ως προς τις πιθανές αιτίες αυτού του προβλήματος και τις επιλογές για τα επόμενα μέτρα που ενδέχεται να είναι αναγκαία.
  • Υπολογισμός ρίσκου εμφάνισης προεκλαμψίας και ενδομήτριας καθυστέρησης της ανάπτυξης του εμβρύου: Σε όλες τις ασθενείς στο τέλος της εξέτασης θα μετρηθεί η ροή αίματος στις μητριαίες αρτηρίες της μητέρας υπερηχογραφικά με την εξέταση Doppler. Το αποτέλεσμα της εξέτασης αυτής μπορεί να μας πει ποιες γυναίκες βρίσκονται σε αυξημένο κίνδυνο να αναπτύξουνε προεκλαμψία, κυρίως πριν τις 34 εβδομάδες, όπως επίσης ποια έμβρυα είναι σε κίνδυνο να παρουσιάσουν καθυστέρηση της ανάπτυξης τους στο τρίτο κυρίως τρίμηνο.
  • Υπολογισμός ρίσκου πρόωρου τοκετού: Σε όλες τις ασθενείς στο τέλος της εξέτασης εφόσον το επιθυμούν, θα μετρηθεί διακολπικά το μήκος του τραχήλου της μήτρας. Γνωρίζουμε ότι κατά τη διάρκεια της κύησης, ο τράχηλος πρέπει να είναι μακρύς και κλειστός. Σε γυναίκες, που κατά την εξέταση έχουνε κοντό τράχηλο, αυξάνεται ο κίνδυνος πρόωρου τοκετού. Η αντιμετώπιση σε αυτή την περίπτωση είναι ανάλογη του προβλήματος.

Εξατομικευμένος  κίνδυνος για το σύνδρομο Down

Η συντριπτική πλειοψηφία των μωρών είναι φυσιολογικά. Ωστόσο, όλες οι γυναίκες, ανεξάρτητα από την ηλικία τους, έχουν ένα μικρό κίνδυνο να γεννηθεί ένα παιδί με σωματική ή και διανοητική αναπηρία. Σε ορισμένες περιπτώσεις η ανωμαλία  οφείλεται σε χρωμοσωμική ανωμαλία όπως το σύνδρομο Down.

Ο μόνος τρόπος να γνωρίζουμε με βεβαιότητα αν το έμβρυο έχει μια χρωμοσωμική ανωμαλία είναι μέσω μίας διαγνωστικής επεμβατικής εξέτασης, όπως η λήψη χοριακής λάχνης (CVS) ή η αμνιοπαρακέντηση. Ωστόσο, οι δοκιμές αυτές εμπεριέχουν τον κίνδυνο της αποβολής της τάξης του 1%.

Εναπόκειται σε εσάς και το σύντροφό σας για να αποφασίσετε εάν ή όχι ο κίνδυνος για το έμβρυο να  έχει χρωμοσωμικές ανωμαλίες είναι αρκετά υψηλός ώστε να δικαιολογεί την επεμβατική δοκιμή. Ως κατευθυντήρια γραμμή, μια επεμβατική εξέταση συνήθως προσφέρεται εάν ο κίνδυνος για το σύνδρομο Down είναι 1 στα 300 ή παραπάνω.

Η πιο ακριβής μέθοδος για την εκτίμηση του κινδύνου το έμβρυο να έχει σύνδρομο Down, διεξάγεται στις11-13 εβδομάδες και εξαρτάται από τα παρακάτω:

  1. Ηλικία της μητέρας
  2. Ποσότητα υγρού πίσω από τον αυχένα του εμβρύου (αυχενική διαφάνεια)
  3. Παρουσία ή απουσία του εμβρυϊκού ρινικού οστού
  4. Εμβρυϊκό  καρδιακό ρυθμό
  5. Τη ροή του αίματος μέσω της τριγλώχινας βαλβίδας της καρδιάς του εμβρύου
  6. Τη ροή του αίματος μέσω του φλεβώδους πόρου στο εμβρυϊκό ήπαρ
  7. Παρουσία ή απουσία οποιωνδήποτε δομικών ανωμαλιών
  8. Επίπεδο των δύο ορμονών (ελεύθερη β-hCG και PAPP-A) στο αίμα της μητέρας

Μετά το υπερηχογράφημα, επί τη βάσει όλων των ανωτέρω παραγόντων, ο εκτιμώμενος κίνδυνος για σύνδρομο Down θα συζητηθεί με σας. Μόνο εσείς μπορείτε να αποφασίσετε εάν θέλετε να υποβληθείτε σε  μια επεμβατική διαγνωστική εξέταση.

Ανεξάρτητα από το αν έχετε αποφασίσει ή όχι να γίνει μια επεμβατική εξέταση, συνιστάται ένα αναλυτικό υπερηχογράφημα στις 20 εβδομάδες για να ελέγξουμε  για δομικές ανωμαλίες στο έμβρυο.

Μεθοδοι διαλογής πληθυσμού ΠΑ (%)
Mητρική ηλικία (ΜΗ)      30
MΗ και βιοχημικοί δείκτες στις 15–18 εβδομάδες      50–70
MΗ και εμβρυϊκή αυχενική διαφάνεια (ΑΔ) στις 11–13+6 εβδομάδες      70–80
MΗ, εμβρυϊκή ΑΔ, ελεύθερη β-hCG και PAPP-A στον ορό της μητέρας στις 11–13+6 εβδομάδες      85–90
MΗ, εμβρυϊκή ΑΔ και ρινικό οστό (ΡΟ) στις 11–13+6 εβδομάδες      90
MΗ, εμβρυϊκή ΑΔ, ΡΟ, ελεύθερη β-hCG και PAPP-A στον ορό της μητέρας στις 11–13+6 εβδομάδες      95

 

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