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产科保健专业人员对胎儿基因组不确定性的看法和经验:一项综述。

Maternity health care professionals' views and experiences of fetal genomic uncertainty: A review.

作者信息

Hui Lisa, Szepe Emma, Halliday Jane, Lewis Celine

机构信息

Reproductive Epidemiology, Murdoch Children's Research Institute, Parkville, Victoria, Australia.

Department of Perinatal Medicine, Mercy Hospital for Women, Heidelberg, Victoria, Australia.

出版信息

Prenat Diagn. 2020 May;40(6):652-660. doi: 10.1002/pd.5673. Epub 2020 Apr 20.

DOI:10.1002/pd.5673
PMID:32096235
Abstract

The field of prenatal screening and diagnosis for fetal anomalies has been marked by a rapid succession of technological advances, including most notably, chromosomal microarray analysis, and next generation sequencing. Despite the diagnostic advantages of these technologies, their incorporation into prenatal testing has created additional challenges of revealing genomic variants of unknown or uncertain significance, and secondary findings. While detailed posttest counseling about uncertain variants is best performed by medical geneticists, many of the screening and diagnostic tests that lead to this information are actually ordered by general maternity health care professionals (HCPs), such as obstetricians, midwives, and family physicians. Maternity HCPs support pregnant women through to the conclusion of their pregnancy and the postpartum period, and thus are close observers of the psychosocial impart of fetal genomic uncertainty on women and their families. While there have been many studies exploring the handling of genomic uncertainty by genetics HCPs, there has been relatively less attention paid to maternity HCPs without speciality training in genetics. This review explores the current literature surrounding nongenetic maternity HCPs' views and experiences of genomic uncertainty and returning uncertain results in the prenatal setting.

摘要

胎儿异常的产前筛查和诊断领域以一系列迅速的技术进步为特征,其中最显著的包括染色体微阵列分析和下一代测序。尽管这些技术具有诊断优势,但将它们纳入产前检测带来了额外的挑战,即揭示意义不明或不确定的基因组变异以及次要发现。虽然关于不确定变异的详细检测后咨询最好由医学遗传学家进行,但许多产生此类信息的筛查和诊断检测实际上是由普通孕产妇保健专业人员(HCPs),如产科医生、助产士和家庭医生开出的。孕产妇保健专业人员在整个孕期及产后阶段为孕妇提供支持,因此是胎儿基因组不确定性对女性及其家庭心理社会影响的密切观察者。虽然有许多研究探讨了遗传学保健专业人员对基因组不确定性的处理,但相对较少关注未接受过遗传学专业培训的孕产妇保健专业人员。本综述探讨了围绕非遗传学孕产妇保健专业人员在产前环境中对基因组不确定性的看法和经历以及返回不确定结果的当前文献。

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引用本文的文献

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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.
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Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre-conception carrier screening.
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J Paediatr Child Health. 2022 May;58(5):758-761. doi: 10.1111/jpc.15955. Epub 2022 Mar 29.
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