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Previous Volume 349:1405-1413 October 9, 2003 Number 15 Next

	Full Text PDF PDA Full Text PowerPoint Slide Set Supplementary Material Editorial by Mennuti, M. T. Letters Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited E-mail When Letters Appear PubMed Citation

ABSTRACT

Background Screening for aneuploid pregnancies is routinely performed after 15 weeks of gestation and has a sensitivity of approximately 65 percent, with a false positive rate of 5 percent. First-trimester markers of aneuploidy have been developed, but their use in combination has not been adequately evaluated in clinical practice.

Methods We conducted a multicenter study of screening for trisomies 21 and 18 among patients with pregnancies between 74 and 97 days of gestation, based on maternal age, maternal levels of free human chorionic gonadotropin and pregnancy-associated plasma protein A, and ultrasonographic measurement of fetal nuchal translucency. A screening result was considered to be positive for trisomy 21 if the calculated risk was at least 1 in 270 pregnancies and positive for trisomy 18 if the risk was at least 1 in 150.

Results Screening was completed in 8514 patients with singleton pregnancies. This approach to screening identified 85.2 percent of the 61 cases of Down's syndrome (95 percent confidence interval, 73.8 to 93.0), with a false positive rate of 9.4 percent (95 percent confidence interval, 8.8 to 10.1). At a false positive rate of 5 percent, the detection rate was 78.7 percent (95 percent confidence interval, 66.3 to 88.1). Screening identified 90.9 percent of the 11 cases of trisomy 18 (95 percent confidence interval, 58.7 to 99.8), with a 2 percent false positive rate. Among women 35 years of age or older, screening identified 89.8 percent of fetuses with trisomy 21, with a false positive rate of 15.2 percent, and 100 percent of fetuses with trisomy 18.

Conclusions First-trimester screening for trisomies 21 and 18 on the basis of maternal age, maternal levels of free human chorionic gonadotropin and pregnancy-associated plasma protein A, and measurement of fetal nuchal translucency has good sensitivity at an acceptable false positive rate.

Source Information

From Drexel University College of Medicine, Philadelphia (R.W., L.J.); the George Washington University Biostatistics Center, Washington, D.C. (E.T., J.Z.); Baylor College of Medicine, Houston (J.L.S.); the Department of Obstetrics and Gynecology, Northwestern University Medical School, Chicago (E.P., R. Sabbagha); the Fetal Diagnostic Center, Evanston Hospital of Northwestern University Medical School, Evanston, Ill. (R. Silver, S.M.); UCLA Center for the Health Sciences, Los Angeles (K.F.); the Department of Obstetrics and Gynecology, Cedars–Sinai Medical Center, Los Angeles (L.P., R. Snijders, N.G.); Yale University, New Haven, Conn. (M.M.); the Department of Obstetrics and Gynecology, Wayne State University, Detroit (A.J.); Magee Women's Hospital, Pittsburgh (A.H., L.H.); BC Women's Hospital, Vancouver, B.C., Canada (D.W., A.G.); McMaster University Medical Centre, Hamilton, Ont., Canada (P.M.); Prenatal Diagnosis of Northern California Medical Group, Sacramento (D.H.); and NTD Laboratories, Huntington Station, N.Y. (D.K., T.H.).

Address reprint requests to Dr. Wapner at the Department of Obstetrics and Gynecology, Drexel University College of Medicine, 245 N. 15th St., MS 495, Philadelphia, PA 19102.

Full Text of this Article

Related Letters:

First-Trimester Screening for Down's Syndrome
Wald N. J., Leporrier N., Leymarie P., Herrou M., Nicolaides K. H., Wapner R. J., the BUN Study Group , Mennuti M. T., Driscoll D. A.
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N Engl J Med 2004; 350:619-621, Feb 5, 2004. Correspondence

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