Down syndrome and neural tube defect screening: the value of using gestational age by ultrasonography

Our goal was to determine whether gestational age should be based on ultrasonographic evaluation or last menstrual period data in the interpretation of second-trimester maternal serum screening for Down syndrome and open neural tube defects.

Initial and revised screen-positive rates and detection rates were reviewed for women undergoing triple-marker testing (maternal serum alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol). The study population consisted of > 24,000 women at 15.0 to 21.9 weeks' gestation with approximately 60% of test interpretations based on ultrasonographic evaluation of gestational age. Gestational age and screening results were compared for 24 Down syndrome pregnancies in which both ultrasonography and last menstrual period dating were available.

Both initial and revised screen-positive rates for Down syndrome were significantly lower when ultrasonographic data were used compared with last menstrual period dating. The detection rate for Down syndrome appeared to be higher with ultrasonographic dating (approximately 76% vs 60% for last menstrual period dating). Down syndrome fetuses had a significantly shorter gestational age when evaluated by ultrasonography (relative to last menstrual period dating), but a similar trend was also seen in control pregnancies. Initial and revised screen-positive rates for open neural tube defects were higher for women who had received an ultrasonographic examination compared with the rates for those women referred with only last menstrual period data. The detection rates for open neural tube defects were similar for both methods of pregnancy dating.

By use of ultrasonographic measurement of gestational age, the number of amniocenteses performed to detect Down syndrome can be substantially reduced while detection rates are maintained or improved.