Objective: The purpose of this study was to investigate the efficiency of second-trimester maternal serum screening for Down’s syndrome and open neural tube defects using alpha-fetoprotein and free β-human chorionic gonadotropin as serum markers. Methods: 3,188 women underwent testing between 14th and 22nd week of pregnancy. Of all tested patients, 25.4% were ≥35 years old. A cut-off risk of ≥1:250 for Down’s syndrome and MS-AFP ≥2.0 MoM for open neural tube defect were considered screen-positive. Results: The detection rate for Down’s syndrome was 77.8% (7/9) with 8.2% screen-positive rate (7.9% false-positive rate). When evaluated separately, in patients younger than 35 and in those ≥35 years old, the screen-positive rates were 3.1 and 23.3%, respectively. A total of 52 (1.6%) were found screen-positive for open neural tube defect; 2 cases of encephalocela and 1 case of gastroschisis were confirmed prenatally. Conclusion: The respectable number of cases with trisomy 21 identified in this study confirms that routine mid-trimester screening for Down’s syndrome including MS-AFP, free β-hCG and maternal age is useful in identifying pregnancies at increased risk.

Objectives: This study was undertaken to assess women’s self-reported awareness of Down syndrome before they became pregnant and after they were supposedly informed about screening. We investigated their understanding of the purpose of screening and what a high statistical risk for Down syndrome means, and if there was a high statistical risk whether they would undergo amniocentesis. Methods: Pregnant women (n = 274) ranging from 17 to 43 years of age, with different educational backgrounds, were surveyed by means of a questionnaire which was given to them immediately before blood samples were taken. Results: Women without a college education were significantly less likely than those with a college education to be aware of Down syndrome prior to pregnancy. Many of them reported being unaware of it even after they had been counseled and tested. Women with a lower level of education were also significantly less likely to have a clear understanding of purpose of screening. Fewer than 0.7% of women who were tested said they were not prepared to undergo amniocentesis, and 47.1% said they would consider amniocentesis only after receiving the screening test result. Conclusion: Procedures for educating women prior to maternal screening must be improved.