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首页> 美国卫生研究院文献>Canadian Medical Association Journal >Periodic health examination 1996 update: 1. Prenatal screening for and diagnosis of Down syndrome. Canadian Task Force on the Periodic Health Examination.
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Periodic health examination 1996 update: 1. Prenatal screening for and diagnosis of Down syndrome. Canadian Task Force on the Periodic Health Examination.

机译：定期健康检查1996年更新：1.唐氏综合症的产前筛查和诊断。加拿大定期健康检查工作队。

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OBJECTIVE: To make recommendations to physicians providing prenatal care on (1) whether prenatal screening for and diagnosis of Down syndrome (DS) is advisable and (2) alternative screening and diagnosis manoeuvres. OPTIONS: "Triple-marker" screening of maternal serum levels of alpha-fetoprotein, human chorionic gonadotropin and unconjugated estriol; fetal ultrasonographic examination; amniocentesis; and chorionic villus sampling (CVS). OUTCOMES: Accuracy of detection of DS in fetuses, and risks to the mother, including psychologic distress, and to the fetus from the screening and diagnostic interventions. EVIDENCE: A MEDLINE search for relevant articles published from Jan. 1, 1966, to Mar. 31, 1994, with the use of MeSH terms "Down syndrome," "prenatal diagnosis," "screening," "prevention," "amniocentesis," "chorionic villus sampling," "ultrasonography," "anxiety," "depression" and "psychological stress" and a manual search of bibliographies, recent issues of key journals and Current Contents. VALUES: The evidence-based methods and values of the Canadian Task Force on the Periodic Health Examination were used. A high value was placed on providing pregnant women with the opportunity to determine whether they are carrying a fetus with DS and to make choices concerning the termination of the pregnancy. The economic issues involved are complex and were not considered. BENEFITS, HARMS AND COSTS: Triple-marker screening identifies an estimated 58% of fetuses with DS, but it has an estimated rate of true-positive results of 0.1% and of false-positive results of 3.7% (given a risk cut-off of one chance in 190 of DS). These rates vary with maternal age and the risk cut-off chosen. Women with a known risk of having a fetus with DS (e.g., those who have had a previous child with DS) may benefit from a reduction in anxiety after confirmation that their fetus does not have DS. Screening allows women at low risk of having a child with DS to detect fetuses with the syndrome, but may cause psychologic distress if there is a false-positive screening test result. Up to 20% of women with positive results of screening tests may decline to undergo a subsequent amniocentesis. Amniocentesis and CVS are very accurate in diagnosing DS in fetuses and have a very low rate of serious complications for the mother. Amniocentesis is associated with a 1.7% rate of fetal loss when it is performed after 16 weeks' gestation, whereas the rate among controls is 0.7% (for a difference of 1%, 95% confidence interval 0.3% to 1.5%). CVS entails a greater risk of fetal loss than amniocentesis (odds ratio 1.32, 95% confidence interval 1.11 to 1.57). There is little evidence from controlled trials of significant associations between amniocentesis or CVS and neonatal morbidity or malformations; however, samples have been too small to show differences in rare outcomes. Results from some case-control studies suggest that CVS increases the risk of transverse limb deficiency. Costs were not considered because they are beyond the scope of this review. RECOMMENDATIONS: There is fair evidence to offer triple-marker screening through a comprehensive program to pregnant women under 35 years of age (grade B recommendation). Women given detailed information about serum-marker screening show more satisfaction with the screening than those not given this information. There is fair evidence to offer amniocentesis or CVS to pregnant women 35 years of age and older and to women with a history of a fetus with DS or of a chromosome 21 anomaly (grade B recommendation). Information on the limitations and advantages of each procedure should be offered. Triple-marker screening may be offered as an alternative to CVS or amniocentesis to pregnant women over 35. VALIDATION: Recommendations concerning prenatal diagnosis are similar to those of the US Preventive Services Task Force, the Society of Obstetricians and Gynaecologists of Canada, the Canadian College of Medical Geneticists and the Cochrane Pregnancy and Childbirth Group. No previous specific recommendations concerning triple-maker screening exist. SPONSORS: These guidelines were developed and endorsed by the Canadian Task Force on the Periodic Health Examination, which is funded by Health Canada and the National Health Research and Development Program.
机译：目的：就（1）是否建议进行产前筛查和诊断唐氏综合症（DS）以及（2）替代筛查和诊断方法，向提供产前护理的医生提出建议。选择：孕产妇血清甲胎蛋白，人绒毛膜促性腺激素和未结合的雌三醇的“三标记”筛查；胎儿超声检查；羊膜穿刺术和绒毛膜绒毛取样（CVS）。结果：在胎儿中检测DS的准确性，以及通过筛查和诊断干预措施对母亲的风险，包括心理困扰，以及对胎儿的风险。证据：使用MEDLINE搜索1966年1月1日至1994年3月31日发表的相关文章，并使用MeSH术语“唐氏综合症”，“产前诊断”，“筛查”，“预防”，“羊膜穿刺术”， 《绒毛膜绒毛取样》，《超声检查》，《焦虑症》，《抑郁症》和《心理压力》，以及对书目，主要期刊的最新发行和当前目录的手动搜索。价值：使用了加拿大定期健康检查工作队的循证方法和价值。高度重视为孕妇提供机会来确定他们是否携带DS胎儿，并就终止妊娠做出选择。涉及的经济问题很复杂，没有考虑。优势，危害和成本：三标记物筛查可鉴定出约有58％的DS胎儿，但其真阳性结果的估计率为0.1％，假阳性结果的估计率为3.7％（考虑到危险因素） DS中的190分之一）。这些比率随产妇年龄和选择的风险临界值而异。已知患有DS胎儿风险的妇女（例如，以前有DS胎儿的妇女）在确认胎儿没有DS后可能会减少焦虑。筛查可以使有DS子女的低风险妇女检测出患有该综合征的胎儿，但如果筛查结果为假阳性，则可能导致心理困扰。筛查结果阳性的女性中，多达20％可能拒绝接受随后的羊膜穿刺术。羊膜穿刺术和CVS在诊断胎儿DS方面非常准确，对母亲的严重并发症发生率很低。羊膜穿刺术在妊娠16周后进行时的胎儿丢失率为1.7％，而对照组之间的比率为0.7％（相差1％，95％的置信区间为0.3％至1.5％）。与羊膜腔穿刺术相比，CVS带来的胎儿丢失风险更大（赔率1.32，95％置信区间1.11至1.57）。对照试验几乎没有证据表明羊膜腔穿刺术或CVS与新生儿发病率或畸形之间存在显着相关性。但是，样本太小而无法显示罕见结果的差异。一些病例对照研究的结果表明，CVS增加了横肢缺损的风险。未考虑成本，因为它们超出了本次审查的范围。建议：有充分的证据表明，可以通过一项综合计划为35岁以下的孕妇提供三标记物筛查（推荐B级）。接受了有关血清标志物筛选的详细信息的女性比未获得此信息的女性对筛选的满意度更高。有充分的证据可以为35岁以上的孕妇以及有DS胎儿病史或21号染色体异常的妇女提供羊膜穿刺术或CVS（推荐B级）。应提供有关每个程序的局限性和优点的信息。三重标记筛查可以作为35岁以上孕妇的CVS或羊膜穿刺术的替代方法。验证：有关产前诊断的建议与美国预防服务工作队，加拿大妇产科医师学会，加拿大学院的建议相似。医学遗传学家和Cochrane妊娠和分娩小组的成员。以前没有关于三元组筛选的具体建议。赞助者：这些指南是由加拿大定期健康检查工作组制定并认可的，该工作组由加拿大卫生部和国家健康研究与发展计划资助。

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