Newborn Screening - University of Washington:新生儿筛查-华盛顿大学.ppt

Newborn Screening - University of Washington:新生儿筛查-华盛顿大学.ppt

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Newborn Screening - University of Washington:新生儿筛查-华盛顿大学

Expanded Newborn Screening: Public Health Policy and Clinical Impact Nutrition 526 October 18, 2010 Beth Ogata, MS, RD, CSP, bogata@ Cristine M Trahms, MS, RD, FADA Newborn Screening A state mandated public health program that begins with a “heel poke” for every baby before hospital discharge First screen must be taken 24-48 hours of life regardless of feeding status or weight Who is screened? Washington State law requires that every newborn be tested prior to discharge from the hospital or within five days of age Second screen strongly recommended between 7 and 14 days of age) Third screen recommended for sick and premature infants Why do newborn screening? Screen a presumably healthy newborn population Detect disease before symptoms present clinically Goal: Prevent or reduce morbidity and mortality Criteria for Newborn Screening Important condition Acceptable treatment available Facilities for diagnosis and treatment Difficult to recognize early Suitable screening test Natural history known Cost-effective to diagnose and treat Tandem Mass Spectrometry (MS/MS) High Impact and High Throughput One disease, one test is not cost-effective Many diseases, one test is cost-effective MS/MS allows for rapid, simultaneous analysis and detection of many disorders of amino acid, organic acid, and fatty acid metabolism Tandem Mass Spectrometer (MS/MS) MS/MS Methodology Blood spots punched (3/16th inch disc) Stable isotope internal standards added (deuterated) Butyl esters derivatives made Automatic injection into MS/MS via 96 well plates Sample set up determines which masses and therefore which compounds are detected 2 minute analysis time Automated data processing for results MS/MS Methodology – continued Compounds analyzed are amino acids and acylcarnitines Amino acids – to identify PKU, MSUD, homocystinuria Acylcarnitine – carnitine (vehicle) + fatty acid for identification of organic acidurias and fatty acid oxidation disorders MS/MS Plasma Acylcarnitines MS/MS Plas

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