Annual Report 2015–16

Add-on Test for the Newborn Metabolic Screening Programme Funded by the Joshua Hellmann Foundation for Orphan Disease and jointly run by the departments of Chemical Pathology, Obstetrics and Gynaecology, and Paediatrics, the Centre of Inborn Errors of Metabolism (CIEM) kicked off the newborn metabolic screening programme in July 2013. By late 2015, more than 20,000 newborn babies had participated in the programme and CIEM had provided newborn screening services for 11 hospitals and four clinics. The test, which requires only a few drops of blood collected by pricking the baby’s heel within seven days after birth, can test over 30 kinds of inborn errors of metabolism. With a further donation from the Foundation, an add-on test for Congenital Adrenal Hyperplasia launched in 2016 would enable early diagnosis and treatment of the recessive disorder that can lead to virilization of the external genitalia in female infants. 擴充新生兒代謝病篩查服務 醫學院化學病理學系、婦產科學系 和兒科學系合辦的代謝病診治中 心， 2013 年 7 月獲夏約書孤兒症基 金會捐款推出新生兒代謝病篩查計 劃，至 2015 年年底，已為逾二萬名嬰 兒檢驗，亦為十一間醫院及四間診 所提供新生兒代謝病篩查服務。此 篩查在嬰兒出生後七天之內進行， 只須穿刺嬰兒腳部收集數滴血液， 便可檢測三十多種代謝病。 2016 年， 該基金會再度捐款，增加「先天性腎 上腺皮質增生症」檢測選項，及早診 治這種影響女嬰外生殖器官發育的 隱性遺傳病。 45 百川滙學海 涓滴傾社群 Community Outreach and Engagement—Forging Ties Near and Far