Newborn Screening Videos

A Miraculous New Era for Cystic Fibrosis: Impact of Molecular Screening and Therapy.

The third annual Paul M. Fernhoff Memorial Lecture was held Thursday, September 17, 2015. Dr. Philip Farrell’s keynote address is available here entitled “A Miraculous New Era for Cystic Fibrosis: … More →

Routine Second Testing in Newborn Screening for Hypothyroidism and Congenital Adrenal Hyperplasia: Is One Screening Test Sufficient?

Dr. Shapira presents on Newborn Screening for Hypothyroidism and Congenital Adrenal Hyperplasia.

The Importance of Standardization of Language and Coding for Newborn Screening

Dr. Zuckerman presents at the 2010 SERGG Annual Meeting.

What’s New in Newborn Screening – July 2010

Dr. Therrell presents at the 2010 SERGG Annual Meeting.

Pompe Disease: Newborn Screening Initiative in the US

Stephanie DeArmey presents “Pompe Disease: Newborn Screening Initiative in the US”. Note that due to PHI, portions of the video slides are blacked out. The audio will continue to play.

Newborn Screening Severe Combined Immunodeficiency T Cell Lymphopenia

Dr. Kobrynski presents at the 2011 SERC-SERGG Annual Conference.

Newborn Screening for VLCAD and GA1 in South Carolina

Dr. Wood presents on VLCAD and GA1 newborn screening in South Carolina for the Lunch and Learn series.

Newborn Screening for Pompe Disease: Lessons Learned from New York

Dr. Amy Yang presents “Newborn Screening for Pompe Disease: Lessons Learned from New York”

Newborn Screening, Lysosomal Storage Disease

New developments with fatty acid oxidation defects

On March 1, 2010, Dr. Michael J. Bennett of The Children’s Hospital of Philadelphia presented “New developments with fatty acid oxidation defects” at Emory University’s Grand Rounds in Atlanta, GA.

Update on Activities of the Secretary’s (Discretionary) Advisory Committee on Heritable Disorders in Newborns and Children

Dr. Bochinni presents on SACHDNC activities.

Newborn Screening for Critical Congenital Heart Disease

Dr. Hinton presents on newborn screening for critical congenital heart disease.

Newborn Screening in the Genomic Era

The SACHDNC Approach to Considering Conditions for Newborn Screening

Dr. Kemper presents on the SACHDNC approach to considering conditions for newborn screening (NBS).

The Affordable Care Act: Implications for Newborn Screening and Children with Genetic Conditions

Meg Comeau presents on the ACA.

NewSTEPs: Newborn Screening Technical assistance and Evaluation Program

Dr. Sontag presents on NewSTEPs.

Newborn Screening for MPS I: Evidence and Rationale

Dr. Kemper presents Newborn Screening for MPS I: Evidence and Rationale.

Newborn Screening for GAMT Deficiency: The Utah Experience

Dr. Pasquali presents, “Newborn Screening for GAMT Deficiency: The Utah Experience”

SERC/GMDI New PKU Nutrition Management Guidelines

Succinylacetone as Primary Marker to Detect Tyrosinemia Type I in Newborns and Its Measurement by Newborn Screening Programs

Dr. De Jesus presents “Succinylacetone as Primary Marker to Detect Tyrosinemia Type I in Newborns and Its Measurement by Newborn Screening Programs”