Influence of smoking habits on Down's syndrome risk evaluation at mid-trimester through biochemical screening.

Expectant mothers who smoke have higher levels of maternal serum alpha-fetoprotein and lower levels of unconjugated estriol and total human chorionic gonadotrophin than non-smoking mothers. This significantly affects performance of screening for Down's syndrome. This study includes 22,169 pregnant women: 18,876 non-smokers, 2,660 smoking < or = 10 cigarettes/day, and 633 smoking > 10 cigarettes/day. Mean maternal age (32.6 years), maternal weight (60.5 kg), and gestational age (114.7 days) were similar or only slightly different between the three groups. To verify the effects of smoking on screening, we studied retrospectively 130 sequential Down's syndrome cases (47 from the screening program, 83 from the prenatal diagnosis program). The proportion of smokers in the Down's syndrome and unaffected pregnancies was similar, whilst the false-positive rate and detection rate, based on fetal outcome, differed: false-positive rates were 5.63% in smokers and 9.42% in non-smokers, and detection rate 55.6% in smokers and 83.0% in non-smokers. Since the prevalence of Down's syndrome pregnancies was the same at mid-trimester in smokers and non-smokers and the proportion of smokers was not related to maternal age, we propose an adjustment of the Down's syndrome risk evaluation algorithm according to smoking habits.

Repeat testing of mothers with high human chorionic gonadotrophin levels in Down's syndrome screening.

Multiples of medians of serum markers are assumed to be independent of gestational age: every algorithm used for Down's syndrome risk evaluation is based on this hypothesis. However, our former observations suggested that multiples of medians of human chorionic gonadotrophin in Down's syndrome are dependent on gestatational age. Furthermore, observations on 84 Down's syndrome cases confirmed that human chorionic gonadotrophin multiples of medians in samples drawn at 15-17 weeks are approximately 10% lower than in samples drawn at 18-21 weeks, thus showing that the human chorionic gonadotrophin concentration decreases about 10% less than expected. The control group comprised 554 women with two blood samples and normal human chorionic gonadotrophin at first sampling. A further group of 532 women with multiples of medians at first sampling > 1.8 was examined with the aim of excluding an association between the human chorionic gonadotrophin trend in Down's syndrome and high starting values. The trend is peculiar to human chorionic gonadotrophin in Down's syndrome pregnancies and may help to explain the increase in detection rate with gestational age. Based on these findings, screening can be optimized, thus improving performance.