| 1 | High-risk phenotypes of genetic disease in a Neonatal Intensive Care Unit population显示文摘To the Editor: Genetic diseases contribute to 35% of deaths during the first year of life and are a significant cause of intensive care.[1] A previous study based on the China Neonatal Genomes Project investigated the genetic causes of early infant deaths and found that >25% of deceased neonates with genetic diagnoses can be cured if diagnosed in time.[2] Therefore, it is crucial to target and diagnose neonates with genetic diseases as early as possible. According to our experience, the typical phenotypes, such as special facial features or multiple congenital anomalies (MCAs), indicate a high risk of genetic disease and lead physicians to perform genetic testing in neonates as early as possible. However, in practice, infants without typical phenotypes typically undergo a long and costly diagnostic process before genetic diagnoses are confirmed. Moreover, a recent survey by the American College of Medical Genetics and Genomics (ACMG) and other national professional organizations indicated that there are insufficient numbers of qualified geneticists to fulfil genetic service needs.[3] The ACMG published the general clinical features for genetic testing indications. For example, patients with phenotypes or family history data that strongly implicate a genetic cause may undergo genetic testing.[1] However, the study indicated that many genetic conditions arise de novo or are inherited with no family history.[1] A previous study attempted to apply the non-phenotype-driven panel approach in neonates admitted to the neonate intensive care unit (NICU).[4] However, at present, the diagnostic yield is only 3.45% (1/29).[4] In addition, the economic and ethical issues associated with genomic screening remain challenging. Therefore, the available indications for genetic testing may improve the management of genetic diseases. | Tiantian Xiao Qi Ni Huiyao Chen Huijun Wang Lin Yang Bingbing Wu Yun Cao Guoqiang Cheng Laishuan Wang Liyuan Hu Hongfang Mei Yulan Lu Mengchun Gong Xinran Dong Wenhao Zhou | 2022 | Chinese Medical Journal2022，，5： | 2 |
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