Background Our aim was to evaluate the prevalence, mortality, regional and sex distribution of neural tube defects (NTDs) in Finland. Methods Data for this population-based study were collected from 1987 to 2018 from the national health and social welfare registers. Results There were in total 1634 cases of NTDs, of which 511 were live births, 72 pregnancies ended in stillbirth and 1051 were terminations of pregnancy due to fetal anomaly (TOPFA). The total prevalence of NTDs was 8.6 per 10 000 births and it increased slightly annually (OR 1.008; 95% CI: 1.002, 1.013) during the 32-year study period. The birth prevalence of NTDs decreased (OR 0.979; 95% CI: 0.970, 0.987), but the prevalence of TOPFA increased annually (OR 1.024; 95% CI 1.017, 1.031). The perinatal mortality of NTD children was 260.7 per 1000 births and the infant mortality was 184.0 per 1000 live births, whereas these measures in the general population were 4.6 per 1000 births and 3.3 per 1000 live births, respectively. There was no difference in the NTD prevalence between males and females (P-value 0.77). The total prevalence of NTDs varied from 7.1 to 9.4 per 10 000 births in Finland by region. Conclusions Although the majority of NTDs are preventable with an adequate folic acid supplementation, the total prevalence increased in Finland during the study period when folic acid supplementation was mainly recommended to high-risk families and to women with folic acid deficiency. NTDs remain an important cause of infant morbidity and mortality in Finland.

中文翻译：

---

芬兰神经管缺陷的流行病学：1987-2018 年全国登记研究


背景 我们的目的是评估芬兰神经管缺陷 (NTD) 的患病率、死亡率、地区和性别分布。方法 这项基于人群的研究的数据是从 1987 年至 2018 年的国家健康和社会福利登记册中收集的。结果 共有NTD 1 634例，其中活产511例，死产72例，胎儿异常终止妊娠（TOPFA）1 051例。 NTD 的总患病率为每 10 000 名新生儿中 8.6 例，并且在 32 年的研究期间每年略有增加（OR 1.008；95% CI：1.002，1.013）。 NTD 的出生患病率下降（OR 0.979；95% CI：0.970，0.987），但 TOPFA 的患病率逐年增加（OR 1.024；95% CI 1.017，1.031）。 NTD儿童的围产期死亡率为每1000名新生儿260.7例，婴儿死亡率为每1000名活产184.0例，而普通人群的这些指标分别为每1000名新生儿4.6例和每1000例活产3.3例。男性和女性之间 NTD 患病率没有差异（P 值 0.77）。在芬兰，按地区划分，NTD 总患病率从每 10 000 名新生儿中 7.1 例到 9.4 例不等。结论 虽然大多数 NTD 可以通过补充足够的叶酸来预防，但在研究期间，芬兰的总患病率有所增加，因为主要建议高危家庭和叶酸缺乏的女性补充叶酸。 NTD 仍然是芬兰婴儿发病和死亡的一个重要原因。