First trimester, second trimester, and integrated screening for Down's syndrome in China

To compare the effectiveness of first trimester, second trimester, and integrated screening for Down's syndrome.

Two prenatal diagnosis centres in China.

A total of 11,966 pregnant women (≥18 years) were screened over 21 months. First trimester screening (11-13 weeks) comprised measurement of serum free beta-human chorionic gonadotrophin (β-hCG) and pregnancy-associated protein-A concentrations, and fetal nuchal translucency thickness. Second trimester screening (15-20 weeks) comprised measurement of β-hCG and alpha fetoprotein concentrations. Computer software was used to calculate the risk of carrying a Down's syndrome fetus.

The overall incidence of Down's syndrome was 0.2% (23/11,966). When the false-positive rate was fixed at 5%, detection rates for first trimester, second trimester, and integrated screening were 73.9%, 69.6%, and 82.6%, respectively. When the false-positive rate was fixed at 3%, detection/sensitivity rates for first trimester, second trimester, and integrated screening were 65.2%, 56.5%, and 73.9%, respectively.

These findings suggest that integrated screening was the most effective means of screening for Down's syndrome in a Chinese population.