Expanded Newborn Screening

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? ,[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]

Expanded Newborn Screening

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