Bromley et al revised a score for detecting Down's syndrome by ultrasonography performed on a fetus at 14 to 20 weeks of gestation. The revised scores incorporates maternal age. The authors are from Massachusetts General Hospital and Brigham & Women's Hospital in Boston.
Parameters:
(1) maternal age in years
(2) major anomaly
(3) thickened nuchal fold (includes cystic hygroma)
(4) short femur for gestational age (ratio of measured to predicted <= 0.91)
(5) short humerus for gestatonal age (ratio of measured to predicted < 0.90)
(6) pyelectasis of the renal pelvis (anterior to posterior diameter >= 4 mm)
(7) hyperechoic bowel (as bright as bone)
(8) echogenic intracardiac focus
Parameter |
Finding |
Points |
---|---|---|
maternal age |
< 35 years |
0 |
|
35 to 39.9 years |
1 |
|
>= 40 years |
2 |
major anomaly |
absent |
0 |
|
present |
2 |
thickened nuchal fold |
absent |
0 |
|
present |
2 |
short femur |
absent |
0 |
|
present |
1 |
short humerus |
absent |
0 |
|
present |
1 |
pyelectasis of the renal pelvis |
absent |
0 |
|
present |
1 |
hyperechoic bowel |
absent |
0 |
|
present |
1 |
echogenic intracardiac focus |
absent |
0 |
|
present |
1 |
where:
• The predicted femoral length was (0.9028 * (bipareietal diameter)) - 9.3105
• The predicted humeral length was (0.8492 * (bipareietal diameter)) - 7.9404
• The revised scored removed evaluation for choroidal plexus cysts because new data shows a lack of correlation with Down's syndrome.
total score =
= SUM(points for all 8 parameters)
Interpretation:
• minimum score: 0
• maximum score: 11
• The higher the score the greater the risk of the fetus having Down's syndrome.
• A score >= 2 identified 76% of fetuses with Down's syndrome with a false positive rate of 6% (prevalence of Down's syndrome in study 23%, with 53 Down's and 177 normal controls).
Purpose: To identify a fetus at 14 to 20 weeks gestation at risk for Down's syndrome using the modified sonographic score of Bromley et al.
Specialty: Obstetrics & Gynecology, Pedatrics, Genetics
Objective: imaging studies, severity, prognosis, stage
ICD-10: Q90,