Malam Faheem, Hartley Taila, Gillespie Meredith K, Armour Christine M, Bariciak Erika, Graham Gail E, Nikkel Sarah M, Richer Julie, Sawyer Sarah L, Boycott Kym M, Dyment David A
Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Am J Med Genet A. 2017 Jul;173(7):1839-1847. doi: 10.1002/ajmg.a.38250. Epub 2017 May 9.
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.
遗传疾病和先天性异常仍然是新生儿死亡和发病的主要原因。鉴于相关的遗传异质性和疾病的早期阶段，在新生儿重症监护病房（NICU）进行基因诊断可能具有挑战性。我们着手评估NICU中医学遗传学咨询在细胞遗传学和分子诊断率以及对管理的影响方面的结果。我们回顾性地查阅了在两年期间入住NICU并接受医学遗传学诊断评估的132例患者的病历。在132例接受评估的患者中，26%（34/132）基于医学遗传学诊断评估获得了细胞遗传学或分子诊断；只有10%（13/132）在住院期间获得了诊断。另外16%（21例患者）在NICU出院后获得了诊断，但基于住院期间启动的基因检测。从NICU入院到确诊的平均时间为24天。对于那些获得基因诊断的患者，所有患者都认为这些信息对临床管理有益，并且12%（4/32）的患者医疗管理发生了直接改变。对于在门诊随访诊所就诊的未确诊婴儿，8%（3/37）做出了诊断。NICU出院后做出的诊断包括更多的孟德尔疾病，这代表了改善基因护理的一个机会。采用与传统方法并行使用的诊断工具，如外显子组测序，将提高诊断率，并将产生重大影响，特别是在鉴别诊断范围广泛时。
