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  • Title: Prospective assessment of the Hong Kong Hospital Authority universal Down syndrome screening programme.
    Author: Sahota DS, Leung WC, Chan WP, To WW, Lau ET, Leung TY.
    Journal: Hong Kong Med J; 2013 Apr; 19(2):101-8. PubMed ID: 23535668.
    Abstract:
    OBJECTIVE: To evaluate the performance of the locally developed universal Down syndrome screening programme. DESIGN: Population-based cohort study in the period July 2010 to June 2011 inclusive. SETTING: Four Hong Kong Hospital Authority Departments of Obstetrics and Gynaecology and a central university-based laboratory for maternal serum processing and risk determination. PARTICIPANTS: Women were offered either a first-trimester combined test (nuchal translucency, free beta human chorionic gonadotropin, and pregnancy-associated plasma protein-A) or nuchal-translucency-only test, or a second-trimester double test (alpha-fetoprotein and total human chorionic gonadotropin) for detection of Down syndrome according to their gestational age. Those with a trisomy 21 term risk of 1:250 or higher were offered a diagnostic test. RESULTS: A total of 16 205 pregnancies were screened of which 13 331 (82.3%) had a first-trimester combined test, 125 (0.8%) had a nuchal-translucency test only, and 2749 (17.0%) had a second-trimester double test. There were 38 pregnancies affected by Down syndrome. The first-trimester screening tests had a 91.2% (31/34) detection rate with a screen-positive rate of 5.1% (690/13 456). The second-trimester test had a 100% (4/4) detection rate with a screen-positive rate of 6.3% (172/2749). There were seven (0.9%) pregnancies that miscarried following an invasive diagnostic test. There were two Down syndrome-affected live births, both with an estimated first-trimester trisomy 21 term risk lower than 1:250. CONCLUSION: The universal screening programme offered at the four units was effective and achieved the expected detection rates and low false-positive rates, and to maintain these, the current emphasis on training, quality control, and regular auditing must continue.
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