Μη επεμβατικός προγεννητικός έλεγχος

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Η επανάσταση στην Εμβρυομητρική Ιατρική
Τα τελευταία χρόνια οι γιατροί έχουν χρησιμοποιήσει τα αποτελέσματα της μέτρησης της αυχενικής διαφάνειας για να συμβουλεύουν τις εγκύους για τον κίνδυνο να αποκτήσουν παιδί με σύνδρομο Down ή άλλες ανωμαλίες.

Η μέτρηση αυχενικής διαφάνειας εξετάζει την πτυχή του δέρματος στο πίσω μέρος του λαιμού του μωρού περίπου στις 12 εβδομάδες. Αυτό έχει βελτιωθεί περαιτέρω με την εξέταση του οστού της μύτης, της ροής αίματος σε ένα μικρό αγγείο στο ήπαρ του μωρού, στην τριγλώχινα βαλβίδα της καρδιάς και μίας επιπλέον εξέτασης αίματος για τον εντοπισμό δύο ορμονών της εγκυμοσύνης. Αυτή η συνδυαστική αξιολόγηση έχει μια προγνωστική αξία της τάξης του 95%.

Μέχρι πρότινος οι γυναίκες με υψηλό κίνδυνο είχαν ως μόνη δυνατότητα να προχωρήσουν σε λήψη τροφοβλάστης (CVS) ή αμνιοπαρακέντησης. Αυτές είναι επεμβατικές εξετάσεις που φέρουν κίνδυνο αποβολής περίπου 1:100. Αυτό αλλάζει τώρα που το μη επεμβατικό τεστ(free cell DNA) είναι διαθέσιμο.

Τί είναι o μη επεμβατικός προγεννητικός έλεγχος;
Πρόκειται για ένα εξαιρετικά καλό και χρήσιμο εργαλείο όταν χρησιμοποιείται σωστά, εξαιρετικά επικίνδυνο όμως όταν προσφέρεται χωρίς να τηρούνται οι απαραίτητες προϋποθέσεις.
Έχει ανακαλυφθεί ότι ένα δείγμα αίματος που λαμβάνεται από τη μητέρα μετά τη 10η εβδομάδα κύησης, περιλαμβάνει σε 5 – 10% ποσοστό αίμα από το έμβρυο.

Έτσι μπορούμε πλέον με σιγουριά  και εξελιγμένες μεθόδους μοριακής ανάλυσης να ανιχνεύσουμε τα:
• Σύνδρομο Down σε ποσοστό >99%.
• Σύνδρομο Edward’s σε ποσοστό 97%.
• Σύνδρομο Patau σε ποσοστό 92%.
• Το φύλλο του εμβρύου προαιρετικά.

Τί χαρακτηριστικά έχει;
Πρόκειται για μια ασφαλή δοκιμασία χωρίς κίνδυνο αποβολής.
Έχει μεγάλη ακρίβεια (>99%) αλλά μικρότερη της αμνιοπαρακέντησης (100%) και γι’ αυτό δεν πρόκειται για διαγνωστική δοκιμασία.
Έχει μεγάλη διαγνωστική ακρίβεια αφού μπορεί να διαγνώσει >99% των μωρών με σύνδρομο Down, 97% των μωρών με Τρισωμία 18 και 92% των μωρών με Τρισωμία 13.
Εφαρμόζεται σε μονήρεις και δίδυμες κυήσεις.
Εφαρμόζεται σε κυήσεις τεχνητής γονιμοποίησης (IVF) ακόμα και σε περιπτώσεις δανεικού ωαρίου (donor egg).

Σε ποιες γυναίκες μπορεί να έχει εφαρμογή;
Το συγκεκριμένο τεστ μπορεί να έχει εφαρμογή σε εγκύους που επιθυμούν ένα ακίνδυνο τεστ υψηλής αξιοπιστίας, το οποίο μπορεί να τις καθησυχάσει για το καλώς έχει του εμβρύου.
Σε γυναίκες που με αυξημένο κίνδυνο από την αυχενική διαφάνεια να έχουν μωρό με χρωμοσωμική ανωμαλία (ρίσκο >1/100), αλλά μικρότερο από 1/11.
Σε γυναίκες με διάμεσα χαμηλό κίνδυνο για χρωμοσωμικές ανωμαλίες
( κίνδυνος  1/100 – 1/2500).
Σε γυναίκες με προηγούμενο ιστορικό κύησης με χρωμοσωμική ανωμαλία.
Σε γυναίκες που διατρέχουν ιδιαίτερο κίνδυνο αποβολής από μια αμνιοπαρακέντηση ή λήψη τροφοβλάστης, όπως σε περιπτώσεις αιματώματος / κολπικής αιμορραγίας πρώτου τριμήνου/ πολύδυμες κυήσεις.

Πώς γίνεται το τεστ;
Απαιτείται ΠΑΝΤΑ υπερηχογραφική εξέταση του εμβρύου, προς καταγραφή της εμβρυικής καρδιακής λειτουργίας και αποκλεισμό δομικών ανωμαλιών. Αμέσως μετά παίρνουμε λίγο αίμα από το χέρι της μητέρας και το δείγμα συσκευάζεται και αποστέλλεται στις ΗΠΑ.

Πότε πρέπει να το κάνω;
Το τεστ προτείνεται να γίνεται  από τις 10 έως και τις 32 εβδομάδες κύησης, με ιδανική  ηλικία κύησης τη 12η εβδομάδα.

Σε πόσο καιρό θα έχω τα αποτελέσματα;
Τα αποτελέσματα είναι συνήθως διαθέσιμα μέσα σε  10-14 ημέρες. Υπάρχει περίπου 1% πιθανότητα να μην έχουμε αποτέλεσμα. Αυτό δεν σημαίνει ένα θετικό ή αρνητικό αποτέλεσμα: είναι μια αποτυχημένη δοκιμασία, κυρίως λόγω χαμηλού εμβρυικού DNA στο μητρικό αίμα. Μια επαναληπτική εξέταση θα προσφερθεί δωρεάν.
Τέλος, σε περίπτωση παθολογικού αποτελέσματος συνιστάται αμνιοπαρακέντηση, η οποία προσφέρεται δωρεάν.

Πώς εκφράζεται το αποτέλεσμα;
Το αποτέλεσμα εκφράζεται ως μία πιθανότητα. Είναι μια δοκιμασία διαλογής και όχι ένα διαγνωστικό τεστ. Ένα αποτέλεσμα χαμηλού κινδύνου σημαίνει ότι ο κίνδυνος  χρωμοσωμικής ανωμαλίας είναι μικρότερος από 1:10000 και ότι σε ποσοστό >99%  το έμβρυο δεν έχει τις παραπάνω χρωμοσωμικές ανωμαλίες. Ένα αποτέλεσμα υψηλού κινδύνου σημαίνει ότι σε ποσοστό >99% το έμβρυο θα έχει Τρισωμία

Τι συμβαίνει μετά τη δοκιμασία;
Ανάλογα με το πόσες εβδομάδες έγκυος είναι η γυναίκα, θα εξακολουθεί να έχει την ευκαιρία για το υπερηχογράφημα της αυχενικής διαφάνειας. Έχοντας ήδη το αποτέλεσμα του τεστ για το σύνδρομο Down, στον υπέρηχο θα εξεταστεί το μωρό με κάθε λεπτομέρεια για τις δομικές ανωμαλίες. Μεταγενέστερα θα πρέπει να γίνει ο υπέρηχος Β’ επιπέδου και το υπερηχογράφημα ανάπτυξης στις 32 εβδομάδες.

Ποια είναι τα καινούργια δεδομένα για την σωστή ερμηνεία του αποτελέσματος;
Σύμφωνα με τις τελευταίες εξελίξεις:
Αποτελεί απαραίτητη προϋπόθεση να προηγείται του τεστ το υπερηχογράφημα της αυχενικής διαφάνειας, ώστε να γνωρίζουμε κατά πόσον η συγκεκριμένη εξέταση αποτελεί τη σωστή επιλογή, δεδομένου ότι το αποτέλεσμα του τεστ είναι άμεσα εξαρτώμενο από το αποτέλεσμα που προκύπτει από την ΑΔ,
Η αξιοπιστία του αποτελέσματος είναι σε άμεση συνάρτηση με το ποσοστό του εμβρυικού κλάσματος (fetal fraction) το οποίο καταγράφεται στο αποτέλεσμα.
Όσο μεγαλύτερο είναι το fetal fraction, τόσο μεγαλύτερη είναι η μείωση του κινδύνου, με τη μέγιστη μείωση να σημειώνεται με fetal fraction >9%.
ΔΕΝ συστήνεται ο καθορισμός ανωμαλιών του φύλου (Χ,Υ) καθώς και μικροελλείψεων από το τεστ καθώς εμφανίζονται πολλά ψευδώς θετικά αποτελέσματα, και δεν υπάρχουν τεκμηριωμένες μελέτες και ασφαλής μεθοδολογία.

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