Description

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).


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