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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Additional performance of nasal bone in first trimester screening.

OBJECTIVE: To evaluate and compare the screening performance for fetal trisomy 21 in the first trimester of pregnancy either with or without inclusion of fetal nasal bone using two separate risk-algorithms of the Fetal Medicine Foundation London (FMF). METHODS: This study included 3174 patients self-referred to our tertiary level prenatal centre for first trimester screening at 11-14 weeks of gestation between December 1, 2002 and November 30, 2004. Fetal risk for trisomy 21 was calculated using either the old FMF-algorithm including maternal age, nuchal translucency (NT), free ss-human chorionic gonadotropin (hCG), pregnancy-associated plasma protein-A (PAPP-A) or the new FMF-algorithm using additionally the presence or absence of fetal nasal bone (NB). All ultrasonographers were certified for measurement of nuchal translucency and nasal bone by the Fetal Medicine Foundation Germany. The detection rate for a fixed risk cut-off (1:300) and a fixed false-positive rate (5 %) was calculated for ultrasound (single NT or NT and NB), serum biochemistry, maternal age and the combination of these components. RESULTS: Pregnancy outcome was obtained in 2973 (93.6 %) cases. Nasal bone was absent in 5 of 18 (27.8 %) cases with fetal trisomy 21 and in 2 of 2961 (0.1 %) normal cases. The estimated risks for trisomy 21 based on maternal age, fetal ultrasound and maternal serum free ss-hCG and PAPP-A was 1 in 300 or greater in (old algorithm without NB/new algorithm including NB) 5.5 % (179 of 2961) and 2.8 % (97 of 2961) normal pregnancies and in 94.4 % (17 of 18) and 77.8 % (14 of 18) of those with trisomy 21. For a fixed false-positive rate of 5 % the respective detection rates of screening for fetal Down's syndrome by maternal age and serum free ss-hCG and PAAP-A, maternal age and fetal ultrasound and by maternal age, fetal ultrasound and maternal serum biochemistry were (old algorithm without NB/new algorithm including NB) 72.2 %/66.7 %, 83.3 %/77.8 % and 88.9 %/83.3 %, respectively. CONCLUSION: Our data show no additional performance of including presence or absence of fetal nasal bone in calculation of risk for fetal Down's syndrome between 11 and 14 weeks of gestation. Individual risk-orientated two-stage screening could be an alternative approach for integration of additional ultrasound markers in first trimester screening.[1]


  1. Additional performance of nasal bone in first trimester screening. Kozlowski, P., Knippel, A.J., Froehlich, S., Stressig, R. Ultraschall. Med (2006) [Pubmed]
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