病理學部利用次世代定序儀檢驗孕婦 血漿內蘊含的胎兒基因，評估胎兒染 色體異常的風險。 The foetal DNA in the maternal plasma is analysed with a nextgeneration sequencer. The test can tell the risk of fetuses having chromosomal disorders. 香港兒童醫院負責醫管局無創性胎兒染色體篩查計劃的化驗工 作，涵蓋唐氏綜合症、愛德華氏綜合症和巴陶氏綜合症。 當孕婦接受產科第一層篩查時發現胎兒有高風險患上這些病 症，其血液樣本便會送交本院作進一步檢驗，準確度達99%， 亦可避免孕婦接受入侵性檢查時的流產風險。 HKCH provides HA’s non-invasive prenatal testing service for Down syndrome, Edwards syndrome and Patau syndrome. For pregnant women whose fetus is considered high risk in the first-tier obstetric screening, their blood samples are sent to HKCH for further testing. The test is 99% accurate, and it also prevents the risk of miscarriage due to invasive examinations. 無創性胎兒篩査 準確又安全 Non-invasive Prenatal Testing Gives Expectant Mothers a Peace of Mind 這名嬰兒是嚴重聯合免疫缺陷病新生兒篩查計劃的第一個 確診個案。患者因身體抵抗力極低，可引發反覆感染而致 命。院方即時為她安排相應保護措施，其後進行造血幹細 胞移植以根治病症。 This baby was the first confirmed case picked up by the newborn screening programme for severe combined immune deficiency, characterised by weak immune system which may result in repeated infections and death. Appropriate protection was immediately given, and haematopoietic stem cell transplant was subsequently arranged as curative treatment. 新生兒篩査 拯救生命 Saving Lives with Newborn Screening 本院支援全港性的初生嬰兒篩查計劃，涵蓋在公立醫院出生的 所有嬰兒，讓患兒能盡早接受治療，有機會健康成長。 現時檢測項目包括26 種先天性代謝病、嚴重聯合免疫缺陷 病、脊髓肌肉萎縮症、葡萄糖六磷酸去氫酵素缺乏症（蠶豆 症）和先天性甲狀腺功能不足。 HKCH supports the territory-wide newborn screening programme which covers all babies born in public hospitals, so they can receive timely treatment when problem is detected. The programme now includes 26 inborn errors of metabolism, severe combined immune deficiency, spinal muscular atrophy, glucose-6-phosphate dehydrogenase deficiency and congenital hypothyroidism. 在初生嬰兒篩查計劃下，嬰兒的血液樣本會由點血卡收 集，送往本院檢測。 Under the newborn screening programme, babies’ blood samples are collected with a dried blood spot card and sent to HKCH for testing. 61 Hong Kong Children’s Hospital 5th Anniversary Commemorative Album 香港兒童醫院 五周年紀念特刊 守護民康 Safeguarding the Community
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