通过新生儿遗传筛查,英格兰一名婴儿在四周内被诊断为罕见的眼癌,从而得以进行早期治疗,并取得更好的视力结果。 A baby boy in England was diagnosed with rare eye cancer at four weeks via newborn genetic screening, enabling early treatment and better vision outcomes.

伯明翰6个月大的弗雷迪·安德海(Freddy Udhay)通过英格兰的一项全国新生儿基因筛选研究,在4周大时被诊断为遗传性视网膜瘤(一种罕见的眼癌)。 Six-month-old Freddie Underhay of Birmingham was diagnosed with hereditary retinoblastoma, a rare eye cancer, at four weeks old through a national newborn genetic screening study in England. 该病因RB1基因突变所致,是英格兰基因组学和英格兰国民保健体系的一项研究举措,即 " 一代研究 " 的一部分,通过整个子宫骨髓血液基因组测序检测到的。 The condition, caused by an RB1 gene mutation, was detected via whole genome sequencing of umbilical cord blood as part of the Generation Study, a research initiative by Genomics England and NHS England. 早期诊断在没有症状或家庭史的情况下进行,使伯明翰儿童医院能够迅速进行激光治疗和化疗,大大提高了保持他的视力的机会。 The early diagnosis, made without symptoms or family history, allowed prompt treatment with laser therapy and chemotherapy at Birmingham Children’s Hospital, significantly improving the chances of preserving his vision. 这项研究目前在51家医院进行,旨在对多达100 000名新生儿进行200多种罕见遗传条件的筛查,专家强调早期干预改变结果的潜力。 The study, now active at 51 hospitals, aims to screen up to 100,000 newborns for over 200 rare genetic conditions, with experts highlighting the potential for early intervention to transform outcomes. 像弗雷迪这样的家庭表达了深深的感激之情，希望放映能够得到广泛普及。 Families like Freddie’s express deep gratitude, hoping the screening will become widely available.