• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>American journal of medical genetics, Part A >Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort
【24h】

Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort

机译：新生儿重症监护单位的基准测试结果：回顾性队列中的细胞遗传学和分子诊断速率

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Genetic disease and congenital anomalies continue to be a leading cause of neonate mortality and morbidity. A genetic diagnosis in the neonatal intensive care unit (NICU) can be a challenge given the associated genetic heterogeneity and early stage of a disease. We set out to evaluate the outcomes of Medical Genetics consultation in the NICU in terms of cytogenetic and molecular diagnostic rates and impact on management. We retrospectively reviewed 132 charts from patients admitted to the NICU who received a Medical Genetics diagnostic evaluation over a 2 year period. Of the 132 patients reviewed, 26% (34/132) received a cytogenetic or molecular diagnosis based on the Medical Genetics diagnostic evaluation; only 10% (13/132) received a diagnosis during their admission. The additional 16% (21 patients) received their diagnosis following NICU discharge, but based on a genetic test initiated during hospital‐stay. Mean time from NICU admission to confirmed diagnosis was 24 days. For those who received a genetic diagnosis, the information was considered beneficial for clinical management in all, and a direct change to medical management occurred for 12% (4/32). For those non‐diagnosed infants seen in out‐patient follow‐up clinic, diagnoses were made in 8% (3/37). The diagnoses made post‐discharge from the NICU comprised a greater number of Mendelian disorders and represent an opportunity to improve genetic care. The adoption of diagnostic tools, such as exome sequencing, used in parallel with traditional approaches will improve rate of diagnoses and will have a significant impact, in particular when the differential diagnosis is broad.
机译：遗传疾病和先天性异常仍然是新生儿死亡率和发病率的主要原因。鉴于疾病的相关遗传异质性和早期阶段，新生儿重症监护病房（NICU）的遗传诊断可能是挑战。我们首先在细胞遗传学和分子诊断率和对管理的影响方面评估NICU中医学遗传学咨询的结果。我们回顾了入院的患者的132张图表，该患者在2年期间接受了接受医疗遗传学诊断评估的尼古尔。在审查的132名患者中，26％（34/132）基于医学遗传诊断评估获得细胞遗传学或分子诊断;只有10％（13/132）在入学期间获得了诊断。婴儿院出院后额外16％（21名患者）诊断，但基于住院期间启动的遗传试验。从NICU入院确诊诊断的平均时间为24天。对于那些获得遗传诊断的人来说，该信息被认为有利于临床管理，并直接改变医疗管理发生12％（4/32）。对于那些在门诊后续诊所中看到的未诊断患儿，诊断为8％（3/37）。从NICU出院后的诊断包括更多孟德尔疾病，并且代表了改善遗传护理的机会。通过与传统方法平行使用的诊断工具，例如与传统方法平行的诊断工具将提高诊断率，并且在差异诊断广泛时，特别是当较广泛的影响。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号