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Prenatal genetic counseling for hemoglobinopathy carriers: a comparison of primary providers of prenatal care and professional genetic counselors.血红蛋白病携带者的产前遗传咨询:产前护理主要提供者与专业遗传咨询师的比较
Am J Hum Genet. 1995 Mar;56(3):769-76.
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Prenatal screening for hemoglobinopathies. I. A prospective regional trial.血红蛋白病的产前筛查。I. 一项前瞻性区域试验。
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Hematol Rep. 2025 Sep 15;17(5):48. doi: 10.3390/hematolrep17050048.

本文引用的文献

1
THE "WHOLE FAMILY" CONCEPT IN CLINICAL GENETICS.临床遗传学中的“整个家族”概念。
Am J Dis Child. 1964 Jan;107:67-76. doi: 10.1001/archpedi.1964.02080060069010.
2
Molecular medicine. A spin-off from the helix.分子医学。螺旋结构的衍生成果。
JAMA. 1993 Apr 21;269(15):1986-92. doi: 10.1001/jama.269.15.1986.
3
Comparing prenatal and neonatal diagnosis of hemoglobinopathies.
Pediatrics. 1993 Sep;92(3):354-7.
4
1993 William Allan award address.1993年威廉·艾伦奖获奖致辞。
Am J Hum Genet. 1994 Mar;54(3):397-402.
5
Adding insult to injury. Usurping patients' prerogatives.雪上加霜。侵犯患者权利。
N Engl J Med. 1983 Apr 14;308(15):898-901. doi: 10.1056/NEJM198304143081511.
6
Screening and genetic counseling for beta-thalassemia trait in a population unselected for interest: comparison of three counseling methods.对未因特定兴趣而筛选的人群进行β地中海贫血特征的筛查和遗传咨询:三种咨询方法的比较。
Am J Hum Genet. 1984 May;36(3):677-89.
7
Prenatal diagnosis of sickle hemoglobinopathies: the experience of the Columbia University Comprehensive Center for Sickle Cell Disease.镰状血红蛋白病的产前诊断:哥伦比亚大学镰状细胞病综合中心的经验
Am J Hum Genet. 1987 Jun;40(6):548-58.
8
Prediction and diagnosis of sickling disorders in neonates.新生儿镰状细胞病的预测与诊断
Arch Dis Child. 1989 Jan;64(1 Spec No):39-43. doi: 10.1136/adc.64.1_spec_no.39.
9
Prenatal screening for hemoglobinopathies. II. Evaluation of counseling.血红蛋白病的产前筛查。II. 咨询评估。
Am J Hum Genet. 1991 Mar;48(3):447-51.
10
Prenatal screening for hemoglobinopathies. I. A prospective regional trial.血红蛋白病的产前筛查。I. 一项前瞻性区域试验。
Am J Hum Genet. 1991 Mar;48(3):439-46.

血红蛋白病携带者的产前遗传咨询:产前护理主要提供者与专业遗传咨询师的比较

Prenatal genetic counseling for hemoglobinopathy carriers: a comparison of primary providers of prenatal care and professional genetic counselors.

作者信息

Rowley P T, Loader S, Sutera C J, Kozyra A

机构信息

Department of Medicine, University of Rochester School of Medicine, NY 14642.

出版信息

Am J Hum Genet. 1995 Mar;56(3):769-76.

PMID:7887433
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1801185/
Abstract

Health personnel trained in medical genetics are insufficient to meet the demand for genetic services. Methods must be found to enable primary care providers to offer commonly needed genetic services themselves. In our recently reported community-wide prenatal screening program for hemoglobinopathies, 36% of women detected to have a hemoglobinopathy did not come to a tertiary center for counseling and thus may have not benefited from testing. To determine whether the efficiency of the program could be increased if counseling were provided by the prenatal care provider (obstetrician or family practitioner), we developed a pilot training program on the basis of our experience in offering such services and enlisted 68% of regional prenatal care providers to participate. The proportion of patients detected to have a hemoglobinopathy who received counseling was similar in the primary and tertiary provider groups: 59% versus 50%, respectively, for sickle trait, and 69% versus 66%, respectively, for beta-thalassemia trait. Knowledge after counseling was also similar for the primary and tertiary provider groups: 64% versus 66% (mean % correct), respectively, for sickle trait, and 79% versus 78%, respectively, for beta-thalassemia trait. However, the two provider groups significantly differed with regard to whether or not the patient had her partner tested. For sickle trait, it was 25% for the primary providers but 49% for the tertiary providers (P < .001). For beta-thalassemia trait, it was 47% for the primary providers but 78% for the tertiary providers (P < .001).(ABSTRACT TRUNCATED AT 250 WORDS)

摘要

接受医学遗传学培训的卫生人员不足以满足对基因服务的需求。必须找到方法,使初级保健提供者能够自行提供常见的基因服务。在我们最近报告的社区范围内的血红蛋白病产前筛查项目中,被检测出患有血红蛋白病的女性中有36%没有前往三级中心接受咨询,因此可能没有从检测中受益。为了确定如果由产前护理提供者(产科医生或家庭医生)提供咨询,该项目的效率是否可以提高,我们根据提供此类服务的经验制定了一个试点培训项目,并招募了68%的地区产前护理提供者参与。在初级和三级提供者组中,被检测出患有血红蛋白病并接受咨询的患者比例相似:镰状细胞性状分别为59%和50%,β地中海贫血性状分别为69%和66%。咨询后的知识水平在初级和三级提供者组中也相似:镰状细胞性状分别为64%和66%(平均正确百分比),β地中海贫血性状分别为79%和78%。然而,在患者是否让其伴侣接受检测方面,两个提供者组存在显著差异。对于镰状细胞性状,初级提供者组为25%,而三级提供者组为49%(P < .001)。对于β地中海贫血性状,初级提供者组为47%,而三级提供者组为78%(P < .001)。(摘要截于250字)