Detection of fetal Turner syndrome with multiple-marker screening.

OBJECTIVE

Our purpose was to examine the ability of the multiple-marker screening test (maternal serum alpha-fetoprotein, human chorionic gonadotropin, unconjugated estriol, and maternal age) to detect fetal Turner syndrome.

METHODS

We reviewed 27,282 screening tests performed at our institution between July 1, 1990, and June 30, 1992. All cases in which fetal Turner syndrome was detected as a result of a positive Down syndrome screening test (Down syndrome risk > or = 1:190) or in which a positive screening test was obtained before an amniocentesis scheduled for other reasons were included. Serum marker levels, Down syndrome risk, and ultrasonographic findings were reviewed. To clarify the relative contributions of estriol and human chorionic gonadotropin to the positive screen, the risks were recalculated using only maternal serum alpha-fetoprotein and hCG or maternal serum alpha-fetoprotein and estriol.

RESULTS

Eight cases were identified. Four fetuses had cystic hygroma and hydrops, two had hygroma only, and two had no abnormality on ultrasonography. Both human chorionic gonadotropin and estriol contributed to the positive screen.

CONCLUSIONS

The multiple-marker screening test appears to detect Turner syndrome, as well as trisomies 21 and 18.