Is the first-trimester combined screening result associated with the phenotype of Down syndrome? A population-based cohort study

Objective

To investigate if the Down syndrome phenotype differs according to the result of first-trimester combined screening (FTS).

Method

We included all Down syndrome cases diagnosed by karyotype in pregnancy or after birth in Denmark during 2005–2018. We compared screen positive (odds ≥1:300) and screen negative (odds <1:300) cases as well as screen result subgroups with respect to anthropometrics, congenital malformations, childhood diseases, and hospitalization.

Results

Absolute measures of fetal and birth anthropometrics were comparable between groups. A prenatal malformation diagnosis was more prevalent among screen positive than screen negative cases. Analyses suggested that this could reflect a detection bias. Cases with a screen result of 1:2–1:10 had a higher probability of being diagnosed with a malformation prenatally and with severe congenital heart disease (CHD) postnatally compared with a result of 1:11–1:300. Screen positive cases more often had non-severe CHD but less often a non-heart malformation compared with screen negative cases, while proportions of severe CHD were similar in these groups. Data on hospitalizations showed inconsistent results.

Conclusion

The 1:300 screening threshold had limited or no value in predicting Down syndrome phenotype severity. In contrast, cases with a screen result between 1:2 and 1:10 may represent a more severe phenotype.     

安普霉素对不同土壤中微生物活动的影响

研究了兽药抗生素安普霉素对不同土壤中微生物呼吸活动和对土壤中微生物种群生长的影响，了解该药物对土壤生态系统生态毒理学效应，以便为药物的环境安全性评价提供依据。利用直接吸收法(密闭法)测定安普霉素对土壤微生物呼吸活动的影响，结果表明：安普霉素对不同土壤中微生物呼吸活动的影响有所差异。在污染的中后期，长春土中加入一定量的安普霉素能刺激土壤的呼吸作用。在染毒的前期，安普霉素对成都土中CO2的释放量均有抑制作用。采用稀释平板法测定了药物对不同土壤中细菌、真菌生长的影响。实验结果显示：安普霉素对土壤中的细菌的生长具有明显的抑制作用，成都土和长春土的抑菌作用最为明显；同时安普霉素的这种抑制作用还表现出时间差异，24h的抑制率高于48h。安普霉素对土壤中真菌生长的影响表现出地域差异，低质量分数的安普霉素对成都土和武汉土中的真菌没有抑制作用。在所测的四种土壤中，南京土中药物对真菌的平均抑制率最高。这可能与土壤中微生物的种类和种群结构有关。安普霉素对不同土壤中对真菌的抑制作用，随药物质量分数的降低和作用时间的延长而降低。