Alembik Y, Dott B, Roth M P, Stoll C
Hôpital de Hautepierre, Centre Hospitalo-Universitaire, Strasbourg, France.
Ann Genet. 1997;40(2):69-71.
The objective of this study was to determine in total prevalence of neural tube defects (NTD) in northeastern France during 1979-1994 inclusive, the impact of prenatal diagnosis on birth prevalence. All births and termination of pregnancy affected by NTD were ascertained from multiple sources thank to our registry of congenital anomalies. In our region maternal serum alpha-fetoprotein screening is not available whereas routine ultrasonographic screening of congenital anomalies is performed in all pregnant women. Total prevalence of NTD during 1979-1994 was 10.73 per 10,000 with no upward or downward trend. The total prevalence of NTD in our region remained stable. However birth prevalence fell significantly. The fall was 100 per cent for anencephaly and 60 per cent for spina bifida. This birth prevalence was unchanged for encephalocele. This decrease for anencephaly and spina bifida was obtained by routine ultrasonographic examination only and termination of pregnancy. Comparison with similar studies in other countries demonstrated that screening by maternal serum alpha-fetoprotein is needed in our region.
本研究的目的是确定1979年至1994年（含）期间法国东北部神经管缺陷（NTD）的总患病率，以及产前诊断对出生患病率的影响。多亏了我们的先天性异常登记处，所有受神经管缺陷影响的出生和终止妊娠情况均从多个来源得以确定。在我们地区，孕妇血清甲胎蛋白筛查不可用，而所有孕妇都进行先天性异常的常规超声筛查。1979年至1994年期间神经管缺陷的总患病率为每10000例中有10.73例，无上升或下降趋势。我们地区神经管缺陷的总患病率保持稳定。然而，出生患病率显著下降。无脑儿的下降率为100%，脊柱裂为60%。脑膨出的出生患病率没有变化。无脑儿和脊柱裂的这种下降仅通过常规超声检查和终止妊娠实现。与其他国家的类似研究相比表明，我们地区需要进行孕妇血清甲胎蛋白筛查。
