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弥合香港产前核型分析与全基因组阵列比较基因组杂交之间的差距:对医护人员和孕妇的知识与接受度调查。

Bridging the gap from prenatal karyotyping to whole-genome array comparative genomic hybridization in Hong Kong: survey on knowledge and acceptance of health-care providers and pregnant women.

作者信息

Cheng Hiu Yee Heidi, Kan Anita Sik-Yau, Hui Pui Wah, Lee Chin Peng, Tang Mary Hoi Yin

机构信息

Department of Obstetrics and Gynaecology, Queen Mary Hospital, 102 Pokfulam Road, Pokfulam, Hong Kong.

出版信息

Arch Gynecol Obstet. 2017 Dec;296(6):1109-1116. doi: 10.1007/s00404-017-4534-2. Epub 2017 Oct 7.

DOI:10.1007/s00404-017-4534-2
PMID:28988271
Abstract

PURPOSE

The use of array comparative genomic hybridization (aCGH) has been increasingly widespread. The challenge of integration of this technology into prenatal diagnosis was the interpretation of results and communicating findings of unclear clinical significance. This study assesses the knowledge and acceptance of prenatal aCGH in Hong Kong obstetricians and pregnant women. The aim is to identify the needs and gaps before implementing the replacement of karyotyping with aCGH. Questionnaires with aCGH information in the form of pamphlets were sent by post to obstetrics and gynecology doctors.

METHOD

For the pregnant women group, a video presentation, pamphlets on aCGH and a self-administered questionnaire were provided at the antenatal clinic.

RESULT

The perception of aCGH between doctors and pregnant women was similar. Doctors not choosing aCGH were more concerned about the difficulty in counseling of variants of unknown significance and adult-onset disease in pregnant women, whereas pregnant women not choosing aCGH were more concerned about the increased waiting time leading to increased anxiety. Prenatal aCGH is perceived as a better test by both doctors and patients.

CONCLUSION

Counseling support, training, and better understanding and communication of findings of unclear clinical significance are necessary to improve doctor-patient experience.

摘要

目的

阵列比较基因组杂交(aCGH)的应用日益广泛。将该技术整合到产前诊断中的挑战在于结果的解读以及传达临床意义不明确的检查结果。本研究评估了香港产科医生和孕妇对产前aCGH的了解程度和接受情况。目的是在实施用aCGH取代核型分析之前,确定需求和差距。以小册子形式包含aCGH信息的问卷通过邮寄方式发送给妇产科医生。

方法

对于孕妇组,在产前诊所提供了视频演示、关于aCGH的小册子以及一份自填式问卷。

结果

医生和孕妇对aCGH的看法相似。不选择aCGH的医生更担心在为孕妇咨询意义不明的变异和成人发病疾病方面存在困难,而不选择aCGH的孕妇更担心等待时间延长会导致焦虑增加。医生和患者都认为产前aCGH是一种更好的检测方法。

结论

为改善医患体验,提供咨询支持、培训以及更好地理解和沟通临床意义不明确的检查结果是必要的。

相似文献

1
Bridging the gap from prenatal karyotyping to whole-genome array comparative genomic hybridization in Hong Kong: survey on knowledge and acceptance of health-care providers and pregnant women.弥合香港产前核型分析与全基因组阵列比较基因组杂交之间的差距:对医护人员和孕妇的知识与接受度调查。
Arch Gynecol Obstet. 2017 Dec;296(6):1109-1116. doi: 10.1007/s00404-017-4534-2. Epub 2017 Oct 7.
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Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong.香港以染色体微阵列分析作为产前诊断的主要检测方法的成本效益分析。
BMC Pregnancy Childbirth. 2020 Feb 14;20(1):109. doi: 10.1186/s12884-020-2772-y.
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Applications of array comparative genomic hybridization in obstetrics.阵列比较基因组杂交技术在妇产科中的应用。
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Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: a prospective study on over 1000 consecutive clinical cases.将 array comparative genomic hybridization 引入常规产前诊断实践:超过 1000 例连续临床病例的前瞻性研究。
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Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong.在香港,全基因组阵列 CGH 评估取代了产前核型分析。
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Prenatal diagnosis and molecular cytogenetic characterization of three chromosomal abnormalities with favorable outcomes.产前诊断和分子细胞遗传学分析三种染色体异常及其良好的结局。
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Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.300例病例中应用阵列比较基因组杂交技术(aCGH)进行产前诊断的临床应用
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Attitudes toward non-invasive prenatal diagnosis among pregnant women and health professionals in Japan.日本孕妇和医疗保健专业人员对非侵入性产前诊断的态度。
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Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting.基于阵列的比较基因组杂交(aCGH)在产前环境中的诊断效用。
Prenat Diagn. 2010 Dec;30(12-13):1131-7. doi: 10.1002/pd.2626.

引用本文的文献

1
Attitudes toward uncertain results from prenatal exome sequencing: a national survey among healthcare professionals working in the prenatal setting.对产前外显子组测序不确定结果的态度:一项针对从事产前工作的医疗保健专业人员的全国性调查。
Front Med (Lausanne). 2024 May 15;11:1335649. doi: 10.3389/fmed.2024.1335649. eCollection 2024.
2
Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross-sectional study with healthcare professionals.处理产前染色体微阵列和外显子测序不确定结果:一项针对医疗保健专业人员的国际横断面研究。
Prenat Diagn. 2021 May;41(6):720-732. doi: 10.1002/pd.5932. Epub 2021 Mar 30.
3
Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong.
香港以染色体微阵列分析作为产前诊断的主要检测方法的成本效益分析。
BMC Pregnancy Childbirth. 2020 Feb 14;20(1):109. doi: 10.1186/s12884-020-2772-y.