唐氏综合征产前检测策略。
Strategies for antenatal detection of Down's syndrome.
作者信息
Wyllie J P, Madar R J, Wright M, Burn J, Wren C
机构信息
Department of Paediatric Cardiology, Freeman Hospital, Newcastle upon Tyne.
出版信息
Arch Dis Child Fetal Neonatal Ed. 1997 Jan;76(1):F26-30. doi: 10.1136/fn.76.1.f26.
AIM
To predict the effect of maternal serum screening and fetal echocardiography on the birth prevalence of Down's syndrome.
METHODS
The outcome of all Down's syndrome pregnancies in the Northern Health Region between 1985 and 1991 was retrospectively ascertained. The number and outcome of all Down's syndrome pregnancies were used to define a theoretical population which would exist in the absence of screening. Published reports were used to predict the effects of screening strategies.
RESULTS
Down's syndrome was identified in 412 pregnancies of which 315 (76%) resulted in live birth. A theoretical population with no antenatal screening would be expected to produce 31 stillbirths and 381 (92%) live births affected by Down's syndrome. In the same population a programme of maternal serum screening and fetal echocardiography would lead to 155 and 14 terminations, respectively, and when combined, would reduce affected live births to 229 (56%).
CONCLUSIONS
Even if maternal serum screening and fetal echocardiography achieve their predicted potential, around half of all pregnancies affected by Down's syndrome will result in live born babies.
目的
预测母体血清筛查和胎儿超声心动图对唐氏综合征出生患病率的影响。
方法
回顾性确定1985年至1991年北部健康地区所有唐氏综合征妊娠的结局。所有唐氏综合征妊娠的数量和结局用于定义在无筛查情况下可能存在的理论人群。利用已发表的报告预测筛查策略的效果。
结果
在412例妊娠中确诊为唐氏综合征，其中315例（76%）活产。预计无产前筛查的理论人群将产生31例死产和381例（92%）受唐氏综合征影响的活产。在同一人群中，母体血清筛查和胎儿超声心动图方案将分别导致155例和14例终止妊娠，两者结合时，可将受影响的活产减少至229例（56%）。
结论
即使母体血清筛查和胎儿超声心动图达到其预测的潜力，约一半受唐氏综合征影响的妊娠仍将导致活产婴儿。
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