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Sequential Pathways of Testing After First-Trimester Screening for Trisomy 21

Lawrence D. Platt, MD^*, Naomi Greene, MPH^*, Anthony Johnson, DO, Julia Zachary, Elizabeth Thom, PhD, David Krantz, Joe Leigh Simpson, MD^¶, Richard K. Silver, MD^||, Rosalinde J. M. Snijders, PhD^*, Laura Goetzl, MD^¶, Eugene Pergament, MD, PhD^**, Karen Filkins, MD, Maurice J. Mahoney, MD, W Allen Hogge, MD, R Douglas Wilson, MD^¶¶, Patrick Mohide, MD^||||, Douglas Hershey, MD^***, Scott MacGregor, DO^||, Ray Bahado-Singh, MD, Laird G. Jackson, MD and Ronald Wapner, MD First Trimester Maternal Serum Biochemistry and Fetal Nuchal Translucency Screening (BUN) Study Group^*

From the *Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center and David Geffen School of Medicine, University of California, Los Angeles, California; Department of Obstetrics and Gynecology, Wayne State University, Detroit, Michigan; The Biostatistics Center, George Washington University, Washington, DC; NTD Laboratories, Huntington Station, New York; ¶Baylor College of Medicine, Houston, Texas; ||Evanston Hospital of Northwestern University Medical School, Evanston, Illinois; **Prentice Women's Hospital of Northwestern University, Chicago, Illinois; University of California, Los Angeles–Prenatal Diagnosis Unit, Los Angeles, California; Yale University, New Haven, Connecticut; Magee-Women's Hospital, Pittsburgh, Pennsylvania; ¶¶British Columbia Women's Hospital, Vancouver, British Columbia, Canada; ||||McMaster University Medical Centre, Hamilton, Ontario, Canada; ***Prenatal Diagnosis of Northern California Medical Group, Sacramento, California; and Drexel University College of Medicine, Philadelphia, Pennsylvania.

Address reprint requests to: Lawrence D. Platt, MD, 6310 San Vicente Boulevard, Suite 520, Los Angeles, CA 90048; e-mail: LPlatt8496{at}aol.com.

OBJECTIVE: To evaluate the performance and use of second-trimester multiple-marker maternal serum screening for trisomy 21 by women who had previously undergone first-trimester combined screening (nuchal translucency, pregnancy-associated plasma protein A, and free ß-hCG), with disclosure of risk estimates.

METHODS: In a multicenter, first-trimester screening study sponsored by the National Institute of Child Health and Human Development, multiple-marker maternal serum screening with alpha-fetoprotein, unconjugated estriol, and total hCG was performed in 4,145 (7 with trisomy 21) of 7,392 (9 with trisomy 21) women who were first-trimester screen-negative and 180 (7 with trisomy 21) of 813 (52 with trisomy 21) who were first-trimester screen-positive. Second-trimester risks were calculated using multiples of the median and a standardized risk algorithm with a cutoff risk of 1:270.

RESULTS: Among the first-trimester screen-negative cohort, 6 of 7 (86%) trisomy 21 cases were detected by second-trimester multiple-marker maternal serum screening with a false-positive rate of 8.9%. Among the first-trimester screen-positive cohort, all 7 trisomy 21 cases were also detected in the second trimester, albeit with a 38.7% false-positive rate.

CONCLUSION: Our data demonstrate that a sequential screening program that provides patients with first-trimester results and offers the option for early invasive testing or additional serum screening in the second trimester can detect 98% of trisomy 21–affected pregnancies. However, such an approach will result in 17% of patients being considered at risk and, hence, potentially having an invasive test.

LEVEL OF EVIDENCE: II-2

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