To estimate the use of maternal serum ADAM12 as a second-trimester Down syndrome serum marker.Samples from a total of 46 Down syndrome pregnancies and 184 unaffected singleton pregnancies matched for gestational age and maternal weight were retrieved from storage and measured for ADAM12; 35 false-positive pregnancies were included among the controls to assess reductions in false-positive rates by inclusion of ADAM12 in the risk calculation of an algorithm that used [alpha]-fetoprotein (AFP) and human chorionic gonadotrophin (hCG) (double screen).ADAM12 was measured and expressed as multiple of the gestation-specific median (MoM) and corrected for maternal weight. The median ADAM12 level in the affected pregnancies was 1.26 MoM compared with 1.0 MoM in the unaffected control pregnancies (p ...

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This study involved 110 Korean Down syndrome fetuses and 602 randomly selected euploid controls. The expected FL for any biparietal diameter (BPD) was calculated based on the control group data. Subjects were divided into four groups according to gestational age periods: 14-18 weeks; 19-23 weeks; 24-28 weeks and 29-36 weeks. The value of measured/expected FL ratio to predict Down syndrome was analyzed for each group.The values of FL for any BPD in Down syndrome patients were significantly different from those in the control group (p < 0.001). A low ratio of measured/expected FL increased the risk of fetal Down syndrome (p < 0.001) with a mean measured/expected FL in Down syndrome of 0.907 (SD 0.075). At a fixed false positive rate of 5%, the sensitivities of FL were lower than 32.8% (95% C...

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