Reports summarize Down syndrome research from P. Kozlowski and co-authors
2007 NOV 14 -- In this recently published study, investigators in Dusseldorf, Germany conducted a study "To evaluate and compare the screening performance for fetal trisomy 21 in the first trimester of pregnancy in general gynaecologists' practices and specialised centres for prenatal care in Germany This study included 15026 serum samples analysed in our laboratory for free beta-human chorionic gonadotropin (hCG) and pregnancy-associated plasma protein-A (PAPP-A) at 11-14 weeks of gestation between 1.1.2000 and 31.12.2003." "Fetal risk for trisomy 21 was calculated using nuchal translucency (NT) values and crown-rump-lengths (CRL), measured either in general gynaecologists' practices or in a tertiary level prenatal centre. The detection rate for a fixed risk cut-off (1:300) and a fixed false-positive rate (5%) was calculated for NT, serum biochemistry, maternal age and the combination of these components The estimated risk for trisomy 21 based on maternal age, fetal NT and maternal serum free beta-hCG and PAPP-A was 1 in 300 or greater in 5.1% (362 of 6897) and 8% (329 of 3840) of normal pregnancies, and in 78.9% (15 of 19) and 88.5% (23 of 26) of those with trisomy 21," wrote P. Kozlowski and colleagues. The researchers concluded: "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 beta-hCG and PAAP-A, maternal age and fetal NT and by maternal age, fetal NT and maternal serum biochemistry were (general gynaecologists' practices/prenatal centre) 68.4/69.2%, 42.1/65.4% and 78.9/88.5%, respectively The screening results are satisfactory in both general gynaecologists' practices and a prenatal centre." Kozlowski and colleagues published their study in Ultraschall in der Medizin (Comparing first trimester screening performance: Routine care gynaecologists' practices vs. prenatal centre - FTS screening differences. Ultraschall in der Medizin, 2007;28(3):291-295). For additional information, contact P. Kozlowski, Pranetal Med & Genetics, Graf Adolf Str 35, D-40210 Dusseldorf, Germany. The publisher of the journal Ultraschall in der Medizin can be contacted at: Georg Thieme Verlag kg, Rudigerstr 14, D-70469 Stuttgart, Germany. Keywords: Germany, Dusseldorf, Developmental Disabilities, Down Syndrome, Genetics. This article was prepared by Genetics & Environmental Health Week editors from staff and other reports. Copyright 2007, Genetics & Environmental Health Week via NewsRx.com.
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