Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes.
Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes.
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DOI：
10.1038/s41436-020-01067-9
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发表时间：
2021-05
期刊：
影响因子：
--
通讯作者：
Swarr DT
中科院分区：
文献类型：
--
作者：
Tolusso LK;Hazelton P;Wong B;Swarr DT
先前的研究报道，产前外显子组测序（pES）可以检测先天性异常胎儿的单基因疾病，诊断率为6%至81%，但其临床应用的报道很少。我们对pe患者进行了回顾性图表回顾，以确定结果是否会导致临床管理的改变。在20例患者中，8例（40%）获得明确诊断。7名患者（35%）根据pES结果改变了医疗管理，包括改变分娩计划和新生儿管理（如使用靶向药物、亚专科转诊、额外的成像和/或手术）。所有接受明确诊断的患者和接受可能致病变异的患者（n = 9; 45%）都接受了关于婴儿复发风险和医学/发育预后的专门咨询。在5例（25%）病例中，结果有助于父母和/或兄弟姐妹的诊断。pES结果可以对临床管理产生重大影响，如果推迟到出生后进行检测，其中一些将无法实现。为了最大限度地发挥临床效用，在有多种护理选择，仅凭影像学结果不足以指导父母决策的情况下，或在产后检查不可行的情况下，应优先考虑pe。
Previous studies have reported that prenatal exome sequencing (pES) can detect monogenic diseases in fetuses with congenital anomalies with diagnostic yields ranging from 6% to 81%, but there are few reports of its clinical utility. We conducted a retrospective chart review of patients who had pES to determine whether results led to clinical management changes. Of 20 patients, 8 (40%) received a definitive diagnosis. Seven patients (35%) had medical management changes based on the pES results, including alterations to their delivery plan and neonatal management (such as use of targeted medications, subspecialty referrals, additional imaging and/or procedures). All patients who received a definitive diagnosis and one who received a likely pathogenic variant (n = 9; 45%) received specific counseling about recurrence risk and the medical/developmental prognosis for the baby. In five (25%) cases, the result facilitated a diagnosis in parents and/or siblings. pES results can have significant impacts on clinical management, some of which would not be possible if testing is deferred until after birth. To maximize the clinical utility, pES should be prioritized in cases where multiple care options are available and the imaging findings alone are not sufficient to guide parental decision-making, or where postnatal testing will not be feasible.
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影响因子：
3
作者：
Best S;Wou K;Vora N;Van der Veyver IB;Wapner R;Chitty LS
通讯作者：
Chitty LS
影响因子：
168.9
作者：
Petrovski, Slave;Aggarwal, Vimla;Wapner, Ronald J.
通讯作者：
Wapner, Ronald J.
DOI：
10.1038/s41436-018-0087-4
发表时间：
2018-08
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Vora NL;Hui L
通讯作者：
Hui L
影响因子：
8.8
作者：
Chandler, Natalie;Best, Sunayna;Chitty, Lyn S.
通讯作者：
Chitty, Lyn S.
影响因子：
8.8
作者：
de Koning, Maayke A.;Haak, Monique C.;Santen, Gijs W. E.
通讯作者：
Santen, Gijs W. E.