Correlation of second-trimester sonographic and biochemical markers

To investigate correlations between sonographic soft markers and biochemical markers (human chorionic gonadotrophin, alpha-fetoprotein, and estriol) for Down syndrome in the second trimester of pregnancy.

A total of 2183 women with apparently normal singleton fetuses who underwent second-trimester sonography (14-22 weeks) and maternal serum biochemical testing (triple test) were identified. Seven sonographic markers were recorded: nuchal fold thickness, humerus length, femur length, renal pyelectasis, hyperechoic bowel, echogenic intracardiac focus, and choroid plexus cysts.

Weak negative but statistically significant correlations were observed between human chorionic gonadotropin (multiples of the median) and both femur length (multiples of the median; Spearman p = -0.073; P < .01) and humerus length (multiples of the median; Spearman p = -0.083; P < .01). No other correlations significant at the 1% level were observed between femur length (multiples of the median) or humerus length (multiples of the median) and the biochemical markers. There were no significant correlations between nuchal fold thickness and any of the 3 biochemical markers. At the 5% (P < .05) level, the median human chorionic gonadotropin level (multiples of the median) was lower when an echogenic intracardiac focus was detected. Hyperechoic bowel also tended to be associated with higher median human chorionic gonadotropin (multiples of the median) and alpha-fetoprotein (multiples of the median) levels (P < .05).

We found that sonographic and biochemical markers for trisomy 21 are largely independent in unaffected pregnancies. For accurate risk estimation, correlations in both affected and unaffected pregnancies need to be considered. No or minimal correlation between sonographic markers and serum screening tests indicates that they can be used as independent modifiers of the maternal age-specific risk for Down syndrome.