Theron Nické, Joubert Gina, Henderson Bertram D
Department of Paediatrics and Child Health, Faculty of Health Sciences, University of the Free State, Bloemfontein, South Africa.
Department of Biostatistics, Faculty of Health Sciences, University of the Free State, Bloemfontein, South Africa.
South Afr J HIV Med. 2020 Sep 25;21(1):1134. doi: 10.4102/sajhivmed.v21i1.1134. eCollection 2020.
Neural tube defects (NTDs) are anomalies of the central nervous system caused by the defective closure of the neural tube during early embryogenesis. A significant decline in the incidence of NTDs after folic acid fortification of food in South Africa was previously shown. Recently, clinical geneticists have voiced concerns that there is a possible resurgence in the number of NTDs.
The aim of this study was to determine the incidence of NTDs at a South African Hospital from 2012 to 2016.
This is a retrospective cross-sectional study where all babies with NTDs born in, or referred to Universitas Hospital were included as study participants. Information was collected for both the mother and the baby from hospital records and data forms.
Seventy-seven cases of NTDs were captured from 2012 to 2016. The incidence of NTDs was 0.34/1000 births in the Free State province, and 1.21/1000 births if only the data for babies born in Universitas Hospital and Pelonomi Hospital were used. Further analysis showed a male: female ratio of 1:1. Open spina bifida was the most common defect at 71.4%.
The incidence of NTDs in the Free State province was low compared to other South African and international studies. The incidence for the metropolitan hospitals is comparable to that of previous studies. This discrepancy is a marker of poor data recording and will impact healthcare planning. A statistically significant increase in NTDs could not be proven.
神经管缺陷（NTDs）是在胚胎发育早期神经管闭合缺陷引起的中枢神经系统异常。此前已表明，南非食品强化叶酸后神经管缺陷的发病率显著下降。最近，临床遗传学家担心神经管缺陷的数量可能会再次上升。
本研究的目的是确定2012年至2016年南非一家医院神经管缺陷的发病率。
这是一项回顾性横断面研究，纳入了所有在尤尼韦西塔斯医院出生或转诊至该医院的患有神经管缺陷的婴儿作为研究对象。从医院记录和数据表格中收集母亲和婴儿的信息。
2012年至2016年共记录到77例神经管缺陷病例。自由邦省神经管缺陷的发病率为0.34/1000例出生，若仅使用尤尼韦西塔斯医院和佩洛诺米医院出生婴儿的数据，则发病率为1.21/1000例出生。进一步分析显示男女比例为1:1。开放性脊柱裂是最常见的缺陷，占71.4%。
与其他南非和国际研究相比，自由邦省神经管缺陷的发病率较低。大都市医院的发病率与之前的研究相当。这种差异是数据记录不佳的一个标志，将影响医疗保健规划。无法证实神经管缺陷有统计学上的显著增加。
