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著者: Lawrence D Platt, Naomi Greene, Anthony Johnson, Julia Zachary, Elizabeth Thom, David Krantz, Joe Leigh Simpson, Richard K Silver, Rosalinde J M Snijders, Laura Goetzl, Eugene Pergament, Karen Filkins, Maurice J Mahoney, W Allen Hogge, R Douglas Wilson, Patrick Mohide, Douglas Hershey, Scott MacGregor, Ray Bahado-Singh, Laird G Jackson, Ronald Wapner, First Trimester Maternal Serum Biochemistry and Fetal Nuchal Translucency Screening (BUN) Study Group
雑誌名: Obstet Gynecol. 2004 Oct;104(4):661-6. doi: 10.1097/01.AOG.0000139832.79658.b9.
Abstract/Text
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 beta-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
PMID 15458882 Obstet Gynecol. 2004 Oct;104(4):661-6. doi: 10.1097/01.AOG.0000139832.79658.b9.
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