关键词: Anxiety Cell-free fetal DNA Down syndrome NIPT Non-invasive prenatal testing Pregnancy Trisomy cffDNA

Mesh : Chromosome Disorders / diagnosis Female Genetic Testing / methods Humans Pregnancy Prenatal Diagnosis / methods psychology Psychology

来  源:   DOI:10.1186/s12884-019-2518-x   PDF(Sci-hub)   PDF(Pubmed)

Abstract:
BACKGROUND: Genomics-based noninvasive prenatal tests (NIPT) allow screening for chromosomal anomalies such as Down syndrome (trisomy 21). The technique uses cell-free fetal DNA (cffDNA) that circulates in the maternal blood and is detectable from 5 weeks of gestation onwards. Parents who choose to undergo this relatively new test (introduced in 2011) might be aware of its positive features (i.e. clinical safety and ease of use); however, they might be less aware of the required decisions and accompanying internal conflicts following a potential positive test result. To show the evidence on psychological and social consequences of the use of NIPT, we conducted a scoping review.
METHODS: We systematically searched four electronic databases (MEDLINE (Ovid), Cochrane Library (Wiley), CINAHL (EBSCO) and PsychINFO (EBSCO)) for studies that investigated the psychological or social consequences of the use of NIPT by pregnant women or expecting parents. The search was limited to studies published between 2011 and August 8, 2018. We identified 2488 studies and, after removal of duplicates, screened 2007 titles and abstracts, and then assessed 99 articles in full text (both screenings were done independently in duplicate). We included 7 studies in our analysis.
RESULTS: Five studies assessed anxiety, psychological distress and/or decisional regret among women with validated psychological tests like the Spielberger State Trait-Anxiety Inventory (STAI), the Pregnancy-Related Anxiety Questionnaire-Revised (PRAQ-R), the Kessler Psychological Distress Scale (K6) or the Decisional Regret Scale (DRS). Two studies assessed women\'s experiences with and feelings after NIPT in interviews or focus groups. The included studies were heterogeneous in location, study setting, inclusion criteria, outcome assessment, and other characteristics.
CONCLUSIONS: Only few studies on psychological consequences of NIPT have been identified. The studies assessed only short-term psychological consequences of NIPT at baseline and/or after receiving the results or after giving birth. Studies show that short term anxiety decreased when women received negative NIPT results and that decisional regret was generally low. We could not identify studies on long term consequences of NIPT, as well as studies on women\'s partners\' short and long term outcomes, nor on social consequences of NIPT.
摘要:
背景:基于基因组学的无创性产前检查(NIPT)可以筛查染色体异常,例如唐氏综合征(21三体)。该技术使用在母体血液中循环的无细胞胎儿DNA(cffDNA),从妊娠5周起即可检测到。选择接受这种相对较新的测试(2011年推出)的父母可能会意识到其积极的特征(即临床安全性和易用性);然而,在潜在的阳性测试结果之后,他们可能不太了解所需的决定和随之而来的内部冲突。为了证明使用NIPT的心理和社会后果的证据,我们进行了范围审查。
方法:我们系统地检索了四个电子数据库(MEDLINE(Ovid),科克伦图书馆(威利),CINAHL(EBSCO)和PsychINFO(EBSCO))用于调查孕妇或期望父母使用NIPT的心理或社会后果的研究。搜索仅限于2011年至2018年8月8日之间发表的研究。我们确定了2488项研究,删除副本后,筛选了2007年的标题和摘要,然后在全文中评估了99篇文章(两次筛查均独立进行,一式两份)。我们在分析中纳入了7项研究。
结果:五项研究评估了焦虑,通过斯皮尔伯格状态特质焦虑量表(STAI)等经过验证的心理测试的女性的心理困扰和/或决策遗憾,妊娠相关焦虑问卷修订(PRAQ-R),凯斯勒心理困扰量表(K6)或决策后悔量表(DRS)。两项研究在访谈或焦点小组中评估了女性在NIPT之后的经历和感受。纳入的研究地点不同,研究设置,纳入标准,结果评估,和其他特征。
结论:关于NIPT心理后果的研究很少。这些研究仅评估了NIPT在基线和/或收到结果后或分娩后的短期心理后果。研究表明,当女性接受NIPT阴性结果时,短期焦虑会减少,并且决策后悔通常很低。我们无法确定有关NIPT长期后果的研究,以及对女性伴侣的短期和长期结果的研究,也不影响NIPT的社会后果。
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