Impact of routine fetal ultrasonographic screening on the prevalence of Down syndrome in non aged mothers.

Annales de genetique Pub Date : 1998-01-01
C Stoll, Y Alembik, B Dott
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Abstract

In many countries the introduction of screening programs based on maternal serum has reduced the number of Down syndrome. In France routine maternal serum screening was not available whereas ultrasound scanning during pregnancy is routine practice in private offices and in hospitals using high-resolution real-time scanners and there are no legal upper limits on gestational age at termination of pregnancy for fetal abnormality. The objective of this study was to determine the impact of routine fetal ultrasonographic screening on birth prevalence of Down syndrome in non aged mothers. Total prevalence of Down syndrome during 1989 to 1996 was stable 1.43 per 1,000 with no upward or downward trend. The total number of liveborn Down syndrome during this period was higher than previously due to a changing pattern of risk in relation to maternal age. All women who delivered an infant with Down syndrome had had routine ultrasonography, including 88% in the second trimester. Out of the 154 Down syndrome fetuses examined, 38 had been found to have an anomaly. This low sensitivity (24.7%) is not the result of the quality of the ultrasound equipment. It may be explained by the inadequate routine, first level ultrasonographic examination. This study demonstrated that other screening methods than routine fetal ultrasonographic examination are needed in our region.

常规胎儿超声筛查对非高龄母亲唐氏综合征患病率的影响。
在许多国家,采用基于母体血清的筛查方案减少了唐氏综合症的数量。在法国,没有常规的母体血清筛查,而怀孕期间的超声波扫描是私人诊所和医院使用高分辨率实时扫描仪的常规做法,并且对因胎儿异常而终止妊娠时的胎龄没有法律上限。本研究的目的是确定常规胎儿超声检查对非高龄母亲唐氏综合征出生患病率的影响。在1989年至1996年期间,唐氏综合症的总患病率稳定在1.43‰,没有上升或下降的趋势。在此期间,由于与产妇年龄相关的风险模式发生变化,活产唐氏综合症的总数高于以前。所有生下唐氏综合症婴儿的妇女都做过常规超声检查,其中88%在妊娠中期。在接受检查的154个唐氏综合症胎儿中,有38个被发现有异常。这种低灵敏度(24.7%)不是超声设备质量的结果。这可能是由于常规一级超声检查不充分所致。本研究表明,除了常规的胎儿超声检查,其他的筛查方法在我们地区是需要的。
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