BENACERRAF

Η ΜΠΕΝΑΣΕΡΑΦ ΗΤΑΝ ΑΥΤΗ ΠΟΥ ΕΙΧΕ ΠΡΩΤΟ ΕΙΣΑΓΕΙ ΤΟ ΓΝΩΣΤΟ  INDEX SCORING SYSTEM
2002
The genetic sonogram A method of risk assessment for Down syndrme  in the second trimester j Ultrasound Med 21; 1087
 sensitivity 80.5 με 12.4  ψευδως θετικα (for the presence of any marker )
 Nuchal fold > 6 ,short humerus , short femur, hyperechoic bowel, eif,pyelectasis,anomaly(mainly cardiac/ventriculomegaly )
Σε αυτη την μελετη ειχαμε 3 παρατηρησεις

1 the presence of at least 1 of these 3 markers, a nuchal fold, short humeral length, and an anomaly  resulted in an sensitivity of 65.2 % for the detection of DS
2 if however the femoral length ,EIF,hyperecho bowel, pyelectasiswere evaluated in a such a manner that at least 2 of these were considered as positive findings, then an additional 4 % fetuses with DS  would be identified
3 hyperechoic bowel was not present as isolated finding in any fetus with DS
4 The LR for the presence of at least 2 of the 4 markers (pyelectasis, EIF, hyperechoicbowel , short femur would be 14 for the detection of DS.

Παλια ειχε εισαγαγει το scoring index system  οπου ειχε σχεδων τα ιδια αποτελεσματα δεδωμενου οτι τωρα εχει διπλασια ψευδως θετικα
Table 1 The Scoring IndeΧ  SENSITIVITY 73%   4 % FPR
Sonographic Finding Score
Major anomaly 2
Nuchal fold > 6 mm 2
Short femur 1
Short humerus 1
Pyelectasis > 4 mm 1
Hyperechoic bowel 1
Echogenic intracardiac focus 1
ενδειξη για αμνιοκεντηση οταν το ειχανε score = ή > 2
 Η ηδια συμπαιρενει
If a patient at low risk found to have a hickened nuchal fold, a major anomaly, a short humerus or an aggregate of markers, the pattern of findings may result in a high enough LR that the rivised risk estimate exceeds the commonly accepted threshold for offering amniocentesis
The presence of short long bones that involve both the humerus and the femur appears to be less important than the finding of an isolated short humerus.this may be possibly reflect the relative contribution of constitutionally small individuals
In a patient at higher risk of aneyploidy with a fetus with a single  minor marker will have a rivised risk estimate that is essentially unchanged from her a prior risk .In that circumnstance ,amniocentesis would be recomended  should prenatal diagnosis be desired

BENACERRAF 2010
 Σε αυτο το πολυ ωραιο editorial  μπορει καποιος να καταλβει την ιστορια του genetic sonogram   και που μαλλον θα κινηθουν τα πραγματα μελλοντικα
The history of the second trimester sonographic markers for detecting fetal down syndrome and their current role in obstetrics practice  PRENATAL DIAGNOSIS 2010 ;30;644-652
It is important to undersstand that first trimester screening changes the prevalence of down syndrome at 20 weeks , since more than 80 % of fetuses with down syndrome  already will have been detected.Thus it is far less likely that an that an isolated sonographic minor soft marker would indicate the presense of down syndrome in a fetus who has already undergone first trimester screening .As a result one must be very carefull to use a priori risks based on a prior screening, which combines all of the integrated testing that the patient has undergone including her age , oterwise, the presense of minor markers (short femur,short humerus,eif, pyelectasis, bright bowel) in the second trimester cannot be interpreted.