Objective: 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.
Methods: This study included 15,026 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.
Results: 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. 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.
Conclusion: The screening results are satisfactory in both general gynaecologists' practices and a prenatal centre.