The association of echogenic fetal lungs with trisomy 21

Objective: To evaluate the association between echogenic appearing lungs on ultrasonographic examination of the fetus and aneuploidy. Methods: Cases in which echogenic lungs were prospectively identified on ultrasonographic examination were collected. Other abnormal ultrasonographic findings were documented, as were patient data pertinent to the risk of aneuploidy, such as maternal age and results of serum screening. The chromosomal complement of each identified case is reported. Results: Five fetuses were identified with diffusely echogenic lungs on ultrasound examination over a two-year period. In three of the five cases, there were other ultrasound abnormalities, although in only one of these was a major congenital abnormality detected. In all three of these cases, the fetal chromosomal complement showed trisomy 21. In 1 of the 2 cases in which the echogenic lungs were an isolated finding, the fetus also was found to have trisomy 21. Conclusions: Bilateral and diffusely echogenic lungs appear to have an association with fetal trisomy 21.