ΜΟΝΤΕΛΟ DEVORE

Ultrasound Obstet Gynecol 2010; 35: 509–521
 Editorial
Genetic sonography: the historical and
clinical role of fetal echocardiography
G. R. DEVORE
Fetal Diagnostic Center, Suite 220, 625 South Fair Oaks Avenue,
Pasadena, California, USA (e-mail: Αυτή η διεύθυνση ηλεκτρονικού ταχυδρομείου προστατεύεται από τους αυτοματισμούς αποστολέων ανεπιθύμητων μηνυμάτων. Χρειάζεται να ενεργοποιήσετε τη JavaScript για να μπορέσετε να τη δείτε. )
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Ο DEVORE ΜΕΤΑ ΑΠΟ ΜΙΑ ΩΡΙΜΗ ΠΕΡΙΟΔΟ ΜΕ ΑΥΤΟ ΤΟ EDITORIAL ΤΟΛΜΑ ΚΑΙ ΑΝΟΙΓΕΙ ΕΝΑ ΝΕΟ ΚΕΦΑΛΑΙΟ   ΚΑΙ ΕΝΑΝ ΑΛΛΟ ΤΡΟΠΟ ΣΚΕΨΗΣ ΣΥΜΦΟΝΩΝΤΑΣ ΜΕ ΤΟΝ NICOLAIDES 2003 Ultrasound Obstet Gynecol 2003; 21: 313–321. (p 317 Phenotypic expression of chromosomal defects) OTI  ΠΛΕΟΝ Ο ΥΠΕΗΧΟΣ Β ΕΠΙΠΕΔΟΥ ΘΑ ΠΡΕΠΕΙ ΝΑ ΕΙΝΑΙ  ΚΥΡΙΩΣ ΕΞΕΤΑΣΗ ΑΝΟΜΑΛΙΩΝ ΚΑΙ ΟΧΙ  ΚΑΤΑΓΡΑΦΗ ΑΠΟ SOFT MARKERS ΠΟΥ ΤΟ ΜΟΝΟ ΠΟΥ ΚΑΝΟΥΝ ΕΙΝΑΙ ΝΑ ΜΠΕΡΔΕΥΟΥΝ ΤΟΝ ΚΟΣΜΟ ΚΑΙ ΝΑ ΦΕΡΝΟΥΝ ΣΕ ΔΥΣΚΟΛΗ ΘΕΣΗ ΤΟΝ ΙΑΤΡΟ ΠΟΥ ΕΚΕΙΝΗ ΤΗΝ ΣΤΙΓΜΗ ΣΥΜΒΟΥΛΕΥΕΙ ΤΟ ΖΕΥΓΑΡΙ . Ο DEVORE ΜΙΛΗΣΕ ΓΙΑ ΤΟ ΑΥΤΟΝΟΗΤΟ .ΟΛΟΙ ΓΝΩΡΙΖΟΥΜΕ ΟΤΙ ΟΤΙ Η ΠΛΕΙΟΨΗΦΙΑ ΤΩΝ ΕΜΒΡΥΩΝ ΜΕ ΣΥΝΔΡΟΜΟ ΝΤΑΟΥΝ ΕΧΕΙ ΚΑΤΙ ΚΟΙΝΟ . ΕΧΕΙ  ΚΑΠΟΙΟΥ ΒΑΘΜΟΥ ΚΑΡΔΙΟΠΑΘΕΙΑ (ΜΕΙΖΩΝΑ Η ΕΛΛΑΣΩΝΑ ) ΟΠΟΥ Η ΣΥΧΝΟΤΗΤΑ ΑΥΤΟΥ ΤΟΥ ΠΡΟΒΛΗΜΑΤΟΣ ΜΠΟΡΕΙ ΝΑ ΦΤΑΣΕΙ ΜΕΧΡΙ 65,8 % . ΑΡΑ ΛΟΙΠΩΝ ΘΕΩΡΗΤΙΚΑ ΣΕ ΕΝΑΝ ΥΠΕΡΗΧΟ Β ΕΠΙΠΕΔΟΥ ΕΑΝ ΕΝΑ ΕΜΒΡΥΟ ΔΕΝ ΕΧΕΙ ΕΜΦΑΝΗ ΚΑΡΔΙΟΠΑΘΕΙΑ ΑΥΤΟ ΣΗΜΑΙΝΕΙ ΟΤΙ ΕΧΟΥΜΕ ΑΠΟΚΛΙΣΕΙ ΤΟΥΛΑΧΙΣΤΟΝ  ΟΤΙ ΤΑ ΜΙΣΑ ΑΠΟ ΑΥΤΑ  ΤΑ ΕΜΒΡΥΑ  ΔΕΝ ΕΧΟΥΝ ΣΥΝΔΡΟΜΟ ΝΤΑΟΥΝ   

The average incidence of congenital
heart defects in individuals with trisomy 21 was 41.5%
(range, 33.1–65.8%). The incidence of an endocardial
cushion defect was 19.3% (range 14.4% to 28.9%),
ventricular septal defect (VSD) 10.3% (range 5.6% to
15.4%), atrial septal defect (ASD) 5.3% (range 2.2% to
13.6%), and other heart defects 6.6% (range 1.7% to
21.9%)

Ο ΚΑΤΩ ΠΙΝΑΚΑΣ ΠΕΡΙΓΡΑΦΕΙ ΤΙΣ ΠΙΟ ΣΥΧΝΕΣ ΚΑΡΔΙΟΠΑΘΕΙΕΣ ΠΟΥ ΣΥΝΑΝΤΙΩΝΤΑΙ ΣΕ ΕΜΒΡΥΑ ΜΕ ΣΥΝΔΡΟΜΟ ΝΤΑΟΥΝ
Abnormal ultrasound findings in 80 second-trimester
fetuses with trisomy 21
Abnormal ultrasoundfinding                        n                 Sensitivity(%)                 Specificity(%)

Structural heart defects
Ventricular septal defect                           27                   33.8*                           94.6
Endocardial cushion defect                        7                     8.8*                            ‡
Right-to-left disproportion†                       18                   22.5*                           98.9
Outflow tract abnormalities                       3                     3.8*                             99.7
Functional heart defects
Pericardial effusion                                  15                    18.8*                          97.6
Tricuspid regurgitation                             23                    28.8*                          98.3
Mitral regurgitation                                  1                      1.3**                          99.9

Compared with control patients (n = 2000), the listed abnormal
ultrasound findings were significantly more frequent in fetuses with
trisomy 21: *P < 0.001, **P < 0.01. †Right atrium/ventricle larger
than left atrium/ventricle. ‡There were no fetuses in the control
group that had an endocardial cushion defect.
Of the
cardiac defects listed in Table , only mitral regurgitation
(1.3%) and isolated outflow tract anomalies (3.8%) had
lower sensitivities for the detection of trisomy 21 than
had the other findings.

ΒΕΒΑΙΑ Ο DEVORE  ΖΕ ΣΤΗΝ ΠΡΑΓΜΑΤΙΚΟΤΗΤΑ ΚΑΙ ΠΡΩΤΕΙΝΗ ΟΤΙ ΕΝΑΣ ΠΛΗΡΗΣ ΕΛΕΓΧΟΣ ΘΑ ΠΡΕΠΕΙ ΝΑ ΕΛΕΓΧΕΙ ΤΑ ΠΙΟ ΚΑΤΩ ΣΤΟΙΧΕΙΑ

Because of the technical skills of the sonographer/
sonologist required to detect over 90% of trisomy 21
fetuses using non-cardiac and cardiac markers (Table below  ),
genetic sonography should only be used as an adjunct
to the above screening protocols or in women who register
for prenatal care after 20 weeks of gestation. The
following two scenarios illustrate when genetic sonography,
coupled with fetal echocardiography, should be
considered.

 Relative risk (RR) for cardiovascular and noncardiovascular
ultrasound markers in 80 second-trimester fetuses
with trisomy 215 (with sensitivity 91% and false-positive rate 14%)
Abnormal ultrasound
finding                                                                                      RR (95% CI)

Head
               CNS abnormalities                                              24.85     (5.78, 106.78)
               Increased NSF (≥6 mm)                                     71.31    (26.19, 194.13)
Chest
               Structural heart defects
                     VSD                                                          12.54    (6.16, 25.50)
                     R-to-L disproportion*                                    88.29   (29.37, 265.38)
                Functional heart defects
                     Pericardial effusion                                       10.02   (3.82, 26.29)
                     Tricuspid regurgitation                                  5.89    (2.38, 14.49)
Abdomen
                Hyperechoic bowel                                           5.65     (2.45, 13.06)
                Pyelectasis                                                      4.57      (1.46, 14.25)
Interactions
                Increased NSF and R-to-L
                        disproportion*                                         0.029 (0.0027, 0.319)

*Right atrium/ventricle larger than left atrium/ventricle. CNS,
central nervous system; NSF, nuchal skin fold; R-to-L, right-to-left;
VSD, ventricular septal defect.

Ο ΙΔΙΟΣ ΦΑΙΝΕΤΕ ΝΑ ΧΡΗΣΙΜΟΠΟΙΕΙ ΜΟΝΟ 2 ΑΠΟ ΤΟΥΣ ΚΛΑΣΙΚΟΥΣ SOFT MARKERS  ΔΗΛΑΔΗ ΤΟ ΥΠΕΡΗΧΟΓΕΝΕΣ ΕΝΤΕΡΟ ΚΑΙ ΤΗΝ ΔΙΑΤΑΣΗ ΤΩΝ ΝΕΦΡΙΚΩΝ ΠΥΕΛΩΝ ΚΑΙ ΑΠΟ ΤΗΝ ΚΑΡΔΙΑ ΝΑ ΔΗΝΕΙ ΕΜΦΑΣΗ ΣΤΗΝ ΠΕΡΙΚΑΡΔΙΚΗ ΣΥΛΛΟΓΗ ΚΑΙ ΣΤΗ ΑΝΕΠΑΡΚΕΙΑ ΤΗΣ ΤΡΙΓΛΩΧΙΝΑΣ ΒΑΛΒΙΔΑΣ
I also found a pericardial effusion in 18.8% of
fetuses with trisomy 215. The association between
a pericardial effusion and trisomy 21 has been

reported by other investigators82–84. Tricuspid regurgitation
was present in 28.8% of fetuses with Down
syndrome5.
 
Ορια για την περικαρδικη συλλογη και ποτε να αξιολογειται 
In the absence of other sonographic abnormalities, an isolated fetal pericardial fluid collection up to 7 mm in thickness is not thought to be associated with an adverse outcome 1.Clinical significance of isolated fetal pericardial effusion.
Di Salvo DN, Brown DL, Doubilet PM, Benson CB, Frates MC.

We conclude that in the absence of other sonographic abnormalities, the finding of a fetal pericardial fluid collection 2 to 7 mm in thickness is not associated with adverse outcome.



Οπως φαινεται απο τα παραπανω ο  devore  δινει ευαισθησια 91 % με 14 % ψευδως θετικα
Εμενα προσωπικα το 14 % μου φαινεται μεγαλος μπελας  με  δεδωμενου οτι το δικο του πρωτοκολλο απετει experts  στην χρηση υπερηχου  . Ο ιδιος δικαιολογει αυτο το υψηλο ποσοστο ψευδως θετικων ως εξεις .Το συγκρίνει  με τα αυξημένα ψευδως θετικα που εχει η Αυχενικη διαφανεια  σε γυναικες μεγαλης ηλικιας και εφυσιχαζεται με αυτον τον τροπο
DEVORE
While investigators have reported an overall false positive
rate less than 7% for all women studied (see
above), the false-positive rate for women over the age of
38 years increases as a function of maternal age108  ( increasing false-positive rate are  associated
with first trimester NT plus serum screening in women
38 years of age and older (false-positive rate 16% at
38 years, false-positive rate 58% at 45 years 108 ).
 For this reason, fetal echocardiographic genetic sonography,
which has a fixed false-positive rate of 14%5, may be
an option for older women, in whom the false-positive
rate for first-trimester NT and serum screening as well
as second-trimester QUAD screening is greater than
14%108

108. Spencer K. Age related detection and false positive rates when
screening for Down’s syndrome in the first trimester using fetal
nuchal translucency and maternal serum free beta-hCG and
PAPP-A. BJOG 2001; 108: 1043–1046.

ΣΥΜΠΕΡΑΣΜΑΤΑ  DEVORE
CONCLUSION
After reviewing the data presented in this Editorial, I
would like to make the following observations:

1. Fetal echocardiography, when coupled with other
ultrasound markers, can identify over 90% of fetuses
with trisomy 21. This is comparable to first-trimester
NTand serum screening aswell as integrated screening.
2. Because of the difficulty in detecting structural and
functional cardiovascular abnormalities during the
second trimester of pregnancy, fetal echocardiography
as a component of the genetic sonogram may be
difficult to apply as a primary screening tool for
trisomy 21.
3. Fetal echocardiographic genetic sonography could
be used for patients who present late (after
20 weeks of gestation) for prenatal care and are
therefore not eligible for second-trimester QUAD
screening.
4. Fetal echocardiographic genetic sonography, when
used as an adjunct to first- and/or second-trimester
screening for trisomy 21 may increase the detection
rate to as high as 99%. This may be advantageous for
patients who desire the highest sensitivity for detection
before considering invasive testing.
5. Because of the increasing false-positive rate associated
with first trimester NT plus serum screening in women
38 years of age and older (false-positive rate 16% at
38 years, false-positive rate 58% at 45 years) fetal
echocardiographic genetic sonography may be an
alternative option for these patients because of its
high sensitivity (91%) and lower false-positive rate
(14%),108.


108 Spencer K. Age related detection and false positive rates when
screening for Down’s syndrome in the first trimester using fetal
nuchal translucency and maternal serum free beta-hCG and
PAPP-A. BJOG 2001; 108: 1043–1046.