Newborn Screening

Newborn Screening
By:Dietrich Matern, M.D., FACMG
Biochemical Genetics Laboratory
Mayo Clinic College of Medicine
Rochester, MN

Objectives
• Demonstrate a deeper understanding of newborn screening (NBS);
• Be aware of available tools to react appropriately to abnormal results.
* What is Newborn Screening?
* Impact on Medical Practice
* What’s next in newborn screening?

Outline
What is Biochemical Genetics?
To achieve early detection and prevention of disease, Biochemical Genetics has a strong emphasis on screening based upon the analysis and interpretation of metabolic profiles in body fluids and tissues:

* Prenatal diagnosis (at risk patients)
* Newborn screening (pre-symptomatic patients)
* High risk screening (symptomatic patients)
* Postmortem screening (metabolic autopsy)

Newborn Screening
* aimed at identification of conditions for which early intervention can prevent
- mortality
- morbidity
- disabilities
* performed by analysis of diagnostic markers in blood spots collected on filter paper on the second day of life

Treatment: Phe-restricted diet
Prognosis: excellent with initiation of treatment shortly after birth
The Traditional NBS Model (Testing as SIMPLE as Possible)

MCAD Deficiency
Drivers of Expansion
Acylcarnitine Analysis
NBS by MS/MS (Multiplex Testing)
Primary Evaluation Criteria of Conditions Considered for Newborn Screening
SECONDARY TARGETS
Impact on Medical Practice Pediatrics/Family Medicine only?
Case Report
Maternal Disease Identified by Newborn Screening
CONCLUSIONS
2nd Tier Tests
Changing CAH Screening in MN
Partial List of Candidate Conditions
Familial Hypercholesterolemia
Conclusions

Newborn Screening.ppt