Prevalence of neural tube defects in northeastern France, 1979-1994. Impact of prenatal diagnosis.

Annales de genetique Pub Date : 1997-01-01
Y Alembik, B Dott, M P Roth, C Stoll
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Abstract

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.

1979-1994年法国东北部神经管缺陷的患病率。产前诊断的影响。
本研究的目的是确定1979-1994年期间法国东北部神经管缺陷(NTD)的总患病率,产前诊断对出生患病率的影响。由于我们的先天性异常登记,所有受NTD影响的出生和终止妊娠都是从多个来源确定的。在我们的地区,产妇血清甲胎蛋白筛查是不可用的,而常规超声筛查先天性异常是在所有孕妇进行。1979-1994年NTD总患病率为10.73 / 10,000,没有上升或下降趋势。在我们区域,NTD的总流行率保持稳定。然而,出生率显著下降。无脑畸形和脊柱裂的死亡率分别下降了100%和60%。脑膨出的出生患病率没有变化。无脑畸形和脊柱裂的减少仅通过常规超声检查和终止妊娠获得。与其他国家类似研究的比较表明,本地区需要通过母体血清进行甲胎蛋白筛查。
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