A prospective trial of prenatal screening for Down syndrome by means of maternal serum α-fetoprotein, human chorionic gonadotropin, and unconjugated estriol

1993 ◽  
Vol 169 (3) ◽  
pp. 526-530 ◽  
Author(s):  
Barbara K. Burton ◽  
Gail S. Prins ◽  
Marion S. Verp
1997 ◽  
Vol 43 (2) ◽  
pp. 333-337 ◽  
Author(s):  
Peter A Benn ◽  
Jonathan M Clive ◽  
Roxanne Collins

Abstract Second-trimester maternal serum α-fetoprotein (AFP), human chorionic gonadotropin (hCG), and unconjugated estriol (uE3) are routinely measured in screening fetuses at high risk for Down syndrome or open neural tube defects (ONTD). For test interpretation, individual patient values of these three analytes are related to population-derived median values. We evaluated data from >21 000 pregnancies to determine the extent of race-specific differences in median concentrations. For samples at most gestational ages, median AFP, hCG, and uE3 values for white, black, Hispanic, and other patients were all significantly different. Differences remained significant even when data were corrected for patient weights. For each analyte, the extent of the variation was not the same at different gestational ages. Differences in median values across race/ethnicity groups appear to have only a small impact in Down syndrome screening but it may be appropriate to use alternative sets of AFP medians or adjustment factors to AFP medians for some Asian populations receiving ONTD screening.


2004 ◽  
Vol 50 (1) ◽  
pp. 182-189 ◽  
Author(s):  
Glenn E Palomaki ◽  
George J Knight ◽  
Marie M Roberson ◽  
George C Cunningham ◽  
Jo Ellen Lee ◽  
...  

Abstract Background: Down syndrome screening is commonly performed in the US using maternal age and three or four second-trimester maternal serum markers that can identify up to 75% of affected pregnancies by offering diagnostic studies to 5% of women. Invasive trophoblast antigen [ITA; hyperglycosylated human chorionic gonadotropin (hCG)] is a promising marker that can be measured in urine or serum in the first or second trimester. We report preliminary results for urinary ITA in an ongoing observational study. Methods: Women undergoing second-trimester amniocentesis for reasons not associated with biochemical testing provided consent and a urine (and possibly serum) sample that was tested within a few days. Demographic and pregnancy-related information was collected, along with karyotype. Screening performance was modeled for ITA alone and in combination with serum markers Results: Twelve recruitment centers collected urine from 2055 women with singleton pregnancies between 15 and 20 weeks of gestation (2023 unaffected, 28 Down syndrome, and 4 pregnancies with other chromosome abnormalities). After correction for gestational age, urine concentration, and maternal race and weight, the ITA measurements were higher in women with a Down syndrome pregnancy (median ITA, 4.33 multiples of the median). At a 75% detection rate, the false-positive rate could be reduced by substituting ITA for hCG measurements (from 5.6% to 2.6% for the triple test) or by adding ITA measurements to existing combinations (from 3.3% to 2.0% for the quadruple test). Conclusions: Our data provide preliminary confirmation of the potential usefulness of urinary ITA measurements in detecting Down syndrome in a setting that simulates routine usage.


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