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Ultrasound Findings and Multiple Marker Screening in Trisomy 18

From the Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, The University of Alabama at Birmingham, Birmingham, Alabama.

Address reprint requests to: Cynthia G. Brumfield, MD, Department of Obstetrics and Gynecology, University of Alabama at Birmingham, 618 South 20th Street, OHB 450, Birmingham, AL 35233-7333, E-mail: cynthiab{at}uab.edu

Objective: To compare detection of trisomy 18 in the second trimester by ultrasound and multiple-marker testing.

Methods: A computerized genetics database was used to identify fetuses of 14–22 weeks’ gestation who had comprehensive ultrasound examinations, multiple-marker screening tests (alpha-fetoprotein [AFP]), hCG, unconjugated estriol [E3], and trisomy 18 karyotype. A positive trisomy 18 screen was defined as AFP up to 0.75 multiples of the median (MoM), hCG up to 0.55 MoM, and unconjugated E3 up to 0.60 MoM. A risk of at least 1:190 defined a positive Down syndrome screen. Ultrasound abnormalities were diagnosed prospectively and were confirmed later by retrospective review of sonographic images.

Results: From 1988–1997, 30 trisomy 18 fetuses who had comprehensive ultrasounds and multiple-marker testing were identified. Twenty-one (70%) had abnormalities detected by ultrasound, of which the most common isolated finding was choroid plexus cyst. Eleven fetuses (37%) had positive trisomy 18 screens, and two had positive Down syndrome screens, for a total of 13 of 30 (43%) fetuses with positive multiple-marker screening tests.

Conclusion: We found that ultrasound was more likely to be abnormal than multiple-marker screening tests in fetuses with trisomy 18 (70%) (95% confidence interval [CI] 54, 86 versus 43% CI 25, 61). However, combining the two testing methods yielded the highest detection rate (80% [CI 66%, 94%]).

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