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[荷兰孕妇血清筛查胎儿神经管缺陷和唐氏综合征的初步经验]

[Serum screening of pregnant women for fetal neural tube defects and Down syndrome; initial experiences in The Netherlands].

作者信息

Beekhuis J R, Mantingh A, de Wolf B T, van Lith J M, Breed A S

机构信息

Academisch Ziekenhuis, Afd. Obstetrie en Gynaecologie, Groningen.

出版信息

Ned Tijdschr Geneeskd. 1993 Jun 26;137(26):1303-7.

PMID:7688448
Abstract

OBJECTIVE

To examine if, and if so, in what way, the maternal serum screening for fetal neural tube defects (NTD) and Down's syndrome (DS) in the Dutch decentralized obstetrical organization would be feasible and effective.

DESIGN

Prospective.

SETTING

University Hospital Groningen.

METHOD

Between October 1st 1990 and December 1st 1991 we determined the likelihood of a baby with a NTD and/or DS in 2580 pregnant women, at 15 to 20 weeks gestation, by serum screening.

RESULTS

Five foetuses with DS were detected, as well as two with a NTD, one foetus with an omphalocele, and one with Turner's syndrome. One infant with a NTD and one with DS were not found prenatally. Of all 98 women of 36 years or older, 68 declined amniocentesis because their risk was lower than the age related risk.

CONCLUSIONS

Maternal serum screening for NTD and DS is feasible and effective in principle. In a decentralized prenatal care system, special attention has to be paid to the time needed to report the results and to the completion of the follow-up. The detection rate of DS in pregnant women of 36 years or older remains almost the same, but a significant number of them decline prenatal diagnosis. An increased risk of foetal DS, determined by serum screening, should be added to the official list of indications for prenatal diagnosis in the Netherlands.

摘要

目的

探讨在荷兰分散式产科机构中,对胎儿神经管缺陷(NTD)和唐氏综合征(DS)进行母体血清筛查是否可行以及若可行其方式如何。

设计

前瞻性研究。

地点

格罗宁根大学医院。

方法

在1990年10月1日至1991年12月1日期间,我们通过血清筛查确定了2580名妊娠15至20周孕妇怀有患NTD和/或DS胎儿的可能性。

结果

检测出5例DS胎儿、2例NTD胎儿、1例脐膨出胎儿和1例特纳综合征胎儿。1例NTD婴儿和1例DS婴儿未在产前被发现。在所有98名36岁及以上的孕妇中,68人因风险低于年龄相关风险而拒绝羊膜穿刺术。

结论

对NTD和DS进行母体血清筛查原则上是可行且有效的。在分散式产前护理系统中,必须特别注意报告结果所需的时间以及后续跟进的完成情况。36岁及以上孕妇中DS的检出率几乎保持不变,但其中相当一部分人拒绝产前诊断。通过血清筛查确定的胎儿DS风险增加应被列入荷兰产前诊断的官方指征清单。

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