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Dr. Sanjida Ahmed  (Director: Research) Eastern Biotech & Life Sciences DuBiotech Park, Dubai UAE Phone: 00971 4 3692061 Email:  [email_address] www.easternbiotech.com Value of Metabolic Disorder Screening for Newborns
Tyler Wayne’s Story ,[object Object],[object Object],[object Object],[object Object],[object Object]
Metabolic Disorders/ IEM ,[object Object],[object Object],[object Object]
Reason behind these Disorders  ,[object Object],[object Object],[object Object],[object Object]
Newborn Screening ,[object Object],[object Object]
Diagnosis of Metabolic Disorders is Challenging ,[object Object],[object Object],[object Object],[object Object],[object Object]
Early detection is very important ,[object Object],[object Object],[object Object],[object Object],[object Object]
If screening is delayed ,[object Object],[object Object],[object Object],[object Object],GA 1 Screened   GA 1 Not Screened   GA 1 Screened
[object Object],[object Object],[object Object],Newborn tested 24 Hours after birth Confirmatory Test Start Treatment  Positive Absence of 50 + treatable IEMs Positive Negative Negative Benefits of Newborn Screening for Metabolic Disorders
[object Object],[object Object],[object Object],Time to do screening
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Every Newborn needs to be Screened
Sample from baby’s Heel 1. Puncture heel 2. Lightly touch filter paper to  LARGE  blood drop 3. Dry the sample & send to the laboratory
Public Awareness of Metabolic Screening  ,[object Object],[object Object],[object Object],[object Object],[object Object]
Tandem Mass Spectrometry (MS/MS) ,[object Object],[object Object],[object Object],[object Object],[object Object]
Expanded Newborn Screening ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Fatty Acid Oxidation Disorders (FAOD S) ,[object Object],[object Object],[object Object]
Symptoms of Fatty Acid Oxidation Disorders ,[object Object],[object Object],[object Object],[object Object]
Treatment of most Fatty Acid Oxidation Disorders ,[object Object],[object Object],[object Object],[object Object],[object Object]
Organic Acid (OA) Disorders ,[object Object],[object Object],[object Object]
Symptoms of most Organic Acid Disorders ,[object Object],[object Object],[object Object],[object Object]
Treatment of most Organic Acid Disorders ,[object Object],[object Object],[object Object],[object Object]
Amino Acid (AA) Disorders ,[object Object],[object Object],[object Object],[object Object]
Biochemical Screening: One test-One Disorder (metabolic disorder screening that cannot be performed by Tandem Mass Spectrometry) ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Future Direction ,[object Object],[object Object],[object Object]
Status of Newborn Screening in UAE ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Relative Incidence of disease ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Status of Newborn Screening in other GCC countries ,[object Object],[object Object],[object Object],[object Object]
Barriers to Newborn Screening ,[object Object],[object Object],[object Object],[object Object],[object Object]
Way Forward ,[object Object],[object Object],[object Object],[object Object]
Conclusion ,[object Object],[object Object],[object Object]
How does MS/MS work?
How does MS/MS work?
How does MS/MS work? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
If the child is older and no symptoms, parent still want to test NBS ,[object Object],[object Object],[object Object]
What happens if baby is a carrier ,[object Object],[object Object],[object Object],[object Object],[object Object]
Critical steps for effective Newborn Screening ,[object Object],[object Object],[object Object],[object Object]
Resources for improved NBS program  ,[object Object],[object Object],[object Object],[object Object],[object Object]
Fatty acid oxidation pathway
Organic acid disorder
Amino acid disorder

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Expanded Newborn Screening

Editor's Notes

  1. Since the implementation of the screening program by MOH, from jan 1995 to Dec 2005