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唐氏综合征筛查:产科医师和妇科医师的实践模式与知识水平

Screening for Down syndrome: practice patterns and knowledge of obstetricians and gynecologists.

作者信息

Cleary-Goldman Jane, Morgan Maria A, Malone Fergal D, Robinson Julian N, D'Alton Mary E, Schulkin Jay

机构信息

Division of Maternal-Fetal Medicine, Columbia University Medical Center, New York, New York 10032, USA.

出版信息

Obstet Gynecol. 2006 Jan;107(1):11-7. doi: 10.1097/01.AOG.0000190215.67096.90.

Abstract

OBJECTIVE

To assess obstetricians' practice patterns and knowledge regarding screening for Down syndrome.

METHODS

A questionnaire was mailed to 1,105 American College of Obstetricians and Gynecologists Fellows and Junior Fellows in 2004.

RESULTS

Sixty percent of questionnaires were returned. Statistical analyses were limited to the 532 practicing obstetricians. Greater than 80% felt their training and experience qualified them to counsel patients about genetic issues in pregnancy. However, 45% rated their residency training regarding prenatal diagnosis as barely adequate or nonexistent. American College of Obstetricians and Gynecologists publications were rated by 86% as an important source of information on genetic counseling. Seventy-eight percent of practitioners counsel all obstetric patients about risks for fetal aneuploidy, and 67% provide counseling for heritable genetic abnormalities. Although the majority (99%) offer second-trimester Down syndrome screening, only 55% also offer first-trimester screening for Down syndrome. Almost one half (49%) use the quad screen, and 6% offer integrated first- and second-trimester screening. The majority (88%) routinely offer amniocentesis to patients who are at elevated risk for genetic abnormalities, whereas 44% also offer chorionic villus sampling. Few (2%) perform chorionic villus sampling.

CONCLUSION

Most obstetricians manage patients at risk for fetal genetic abnormalities according to American College of Obstetricians and Gynecologists educational materials. This survey identified deficiencies related to Down syndrome screening, including a limited number of practitioners performing chorionic villus sampling and physicians' own perception that training regarding genetic counseling should be improved. Educational strategies are needed to address these deficiencies before first-trimester screening programs are widely implemented.

LEVEL OF EVIDENCE

III.

摘要

目的

评估产科医生对唐氏综合征筛查的实践模式和知识水平。

方法

2004年向1105名美国妇产科医师学会会员和初级会员邮寄了调查问卷。

结果

60%的问卷被收回。统计分析仅限于532名执业产科医生。超过80%的人认为他们的培训和经验使他们有资格就孕期遗传问题为患者提供咨询。然而,45%的人认为他们住院医师培训期间的产前诊断内容勉强足够或根本不存在。86%的人将美国妇产科医师学会的出版物评为遗传咨询的重要信息来源。78%的从业者会向所有产科患者咨询胎儿非整倍体的风险,67%的人会为可遗传的基因异常提供咨询。虽然大多数人(99%)提供孕中期唐氏综合征筛查,但只有55%的人也提供孕早期唐氏综合征筛查。近一半(49%)的人使用四联筛查,6%的人提供孕早期和孕中期联合筛查。大多数人(88%)会常规为遗传异常风险较高的患者提供羊膜穿刺术,而44%的人也提供绒毛取样。很少有人(2%)进行绒毛取样。

结论

大多数产科医生根据美国妇产科医师学会的教育材料来管理有胎儿遗传异常风险的患者。这项调查发现了与唐氏综合征筛查相关的不足,包括进行绒毛取样的从业者数量有限,以及医生自己认为遗传咨询方面的培训应该改进。在广泛实施孕早期筛查项目之前,需要采取教育策略来解决这些不足。

证据级别

III级

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