Objective

We evaluated changes in genetic testing for neonatal onset epilepsy and associated short-term outcomes over an 8-year period among a cohort of NICU patients at a single institution before and after the introduction of sponsored genetic epilepsy testing in January, 2018.

Methods

Our primary outcome was a change in length of stay (LOS) after 2018. We also ascertained severity of illness with the Neonatal Sequential Organ Failure Assessment (nSOFA), type and result of genetic testing, turnaround time to molecular diagnosis (TAT), LOS, antiseizure medications (ASM) and use of technology at discharge. We compared outcomes using non-parametric tests and difference-in-difference analysis.

Results

Fifty-three infants with genetic testing were included; 20 infants were tested after 2018. 4,160 infants in the NICU without genetic testing were used as reference. In the genetic testing group, LOS was 25 days (IQR 5, 49) pre-2018 and 19 days (IQR 6, 19) post-2018 (p<0.001 when compared to the reference population in the difference-in-difference analysis). TAT decreased from 51 days to 17 days after 2018 (p=0.003). ASM number decreased from 4 (IQR 2,5) to 2 post-2018 (IQR1,3) (p=0.02). Over the same time periods there was no significant change in birth weight, maximum nSOFA score, or technology dependence.

Conclusions

In this cohort, changes in genetic testing for neonatal onset epilepsy were associated with shorter LOS that was not explained by changes in severity of illness, birth weight, or the average LOS in the NICU over time. Validation of these results in a larger, multicenter sample size is warranted.

中文翻译：

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癫痫新生儿的基因检测和住院时间

客观的

我们评估了 2018 年 1 月引入赞助性遗传癫痫检测前后，在同一机构的一组 NICU 患者中 8 年期间新生儿发病癫痫基因检测的变化以及相关的短期结果。

方法

我们的主要结局是 2018 年之后住院时间 (LOS) 的变化。我们还通过新生儿序贯器官衰竭评估 (nSOFA) 确定疾病的严重程度、基因检测的类型和结果、分子诊断 (TAT) 的周转时间、LOS 、抗癫痫药物 (ASM) 以及出院时使用技术。我们使用非参数检验和双重差分分析来比较结果。

结果

包括 53 名接受基因检测的婴儿；2018年后对20名婴儿进行了检测。以NICU中未进行基因检测的4160名婴儿作为参考。在基因检测组中，2018 年之前的 LOS 为 25 天 (IQR 5, 49)，2018 年之后为 19 天 (IQR 6, 19)（在双差分析中与参考人群相比，p<0.001） 。2018 年之后，TAT 从 51 天减少到 17 天 (p=0.003)。ASM 数量从 4 起（IQR 2.5）减少到 2018 年后的 2 起（IQR1.3）（p=0.02）。在同一时期内，出生体重、最大 nSOFA 评分或技术依赖性没有显着变化。

结论

在该队列中，新生儿癫痫基因检测的变化与较短的 LOS 相关，但不能用疾病严重程度、出生体重或 NICU 中平均 LOS 随着时间的推移的变化来解释。有必要在更大的多中心样本量中验证这些结果。