Pei Li-Jun, Li Zhu, Li Song, Hong Shi-Xin, Wang Hong, Wang Tai-Mei, Zhao Xiu-Qin, Guan Yu-Bei, Xiao Lan, Wang Li-Na
Institute of Reproductive and Child Health, Peking University, Beijing 100083, China.
Zhonghua Yu Fang Yi Xue Za Zhi. 2003 Sep;37(5):338-41.
To describe and analyze epidemiological characteristics of babies with neural tube defects (NTD) by sex and birth outcome in a high-prevalence and a low-prevalence areas of China.
Birth defects surveillance data collected from 1992 through 1994, as a part of the Sino-American cooperative project on NTD prevention, were used to classify NTD as four categories, i.e., anencephaly, encephalocele, high-level and low-level spina bifida according to the sites of lesion (high vs. low level lesion were cervicothoracic and lumbosacral, respectively). Each category was sub-classified, according to single or compound defect, as isolated external defects (including those with NTD only) or multiple external defects (including those with NTD and another major external birth defects that is not the sequence of a defect such as cleft lip with or without cleft palate). The rates of anencephalus, encephalocele, high- and low-level spina bifida (SB) in males and females and their sex ratios were calculated, adjusted for urban and rural areas, season, category and birth outcome by sex and sites of lesions (high vs. low).
Totally, 784 NTD cases were identified from 326 874 recorded births (including live births, stillbirths and fetal deaths with a gestation age of at least 20 weeks). The prevalence rates of anencephalus (1.30 per 1 000 female births) and high-level SB (3.99) in females were higher than those (0.66 and 1.66 per 1 000 male births) in males in the high-prevalence northern regions; with adjusted prevalence rates of females 1.8 - 2.1 times greater than those of males. In the low-prevalence southern regions, the prevalence of high- (0.32 per 1 000 female births) and low-level SB (0.21) in female were higher than those in males, with high- and low-level SB rate of 0.10 and 0.09 per 1 000 male births), with adjusted rates for females of 1.3 - 1.6 times higher than in males. Isolated NTD accounted for more than 80% of all NTD cases, and the prevalence of isolated NTD in females (2.57) was higher than that in males (1.40).
The sex differences in NTD existed between north and south, in accordance with the phenotype of NTD. It suggested that proportion of high level SB and anencephalus in females could increase as the prevalence of NTD going up, anencephaly, high- and low-level SB had the different genetic and environmental background.
描述并分析中国神经管缺陷(NTD)高发区和低发区婴儿神经管缺陷按性别及出生结局的流行病学特征。
作为中美神经管缺陷预防合作项目的一部分,收集1992年至1994年的出生缺陷监测数据,根据病变部位(高位病变为颈胸段,低位病变为腰骶段)将神经管缺陷分为无脑儿、脑膨出、高位脊柱裂和低位脊柱裂四类。每类再根据单一或复合缺陷,分为单纯外部缺陷(包括仅患有神经管缺陷者)或多重外部缺陷(包括患有神经管缺陷及另一种非缺陷序列的主要外部出生缺陷者,如唇裂伴或不伴腭裂)。计算城乡、季节、类别及出生结局按性别和病变部位(高位与低位)调整后的男、女无脑儿、脑膨出、高位和低位脊柱裂(SB)的发病率及其性别比。
在326874例有记录的出生(包括活产、死产及妊娠至少20周的死胎)中,共确诊784例神经管缺陷病例。在北方高发区,女性无脑儿(每1000例女性出生中有1.30例)和高位脊柱裂(3.99例)的发病率高于男性(每1000例男性出生中分别为0.66例和1.66例);调整后的女性发病率是男性的1.8 - 2.1倍。在南方低发区,女性高位(每1000例女性出生中有0.32例)和低位脊柱裂(0.21例)的发病率高于男性(每1000例男性出生中高位和低位脊柱裂发病率分别为0.10例和0.09例),调整后的女性发病率比男性高1.3 - 1.6倍。单纯神经管缺陷占所有神经管缺陷病例的80%以上,女性单纯神经管缺陷的发病率(2.57)高于男性(1.40)。
神经管缺陷的性别差异在南北地区存在,与神经管缺陷的表型一致。这表明随着神经管缺陷患病率的上升,女性中高位脊柱裂和无脑儿的比例可能增加,无脑儿、高位和低位脊柱裂具有不同的遗传和环境背景。