Self-Titled
This is the first disease that was screened for in newborns.
Phenylketonuria
T/F. NBS is standardized across the United States
False. Many states have a variety of tests that are performed.
T/F False positives are more likely than a true positive.
True. For some diseases 50 times more likely.
This Presbyterian pastor created a children's show where they invited them into his neighborhood, both real and make believe
Fred Rogers (Mr. Roger's Neighborhood)
This 1994 film is based on Shakespeare's Play "Hamlet"
The Lion King
T/F. Newborn screening tests for chromosomal abnormalities like Trisomy 13, 18, 21, Turner's
F. Non-invasive pre-natal testing or karotype must be performed for these disorders
F, exemptions for religious reasons
You as a PCP are called by the state for a positive screening on a baby you have not seen yet, what do you ask on the phone call?
Demographic information (just in case you don't actually have this child's stuff), the result that is abnormal, how abnormal is it, recommendations on follow up testing.
This Dr. helped to re-coin the phrase "If I had a nickel for everytime x happened" from "I'd be rich" to "I'd have two nickels, but it's weird that it happened twice right?"
Dr. Doofenshmirtz
This 2013 film is a novel take in the zombie genre modeled after Shakespeare's "Romeo and Juliet"
Warm Bodies
These are the risks of NBS (4)
• False-negative screening potentially providing a false sense of security
• False-positive results lead to parental anxiety and additional testing and treatment
• Revelation of misattributed paternity through genetic tests
• Allocation of limited financial and personal resources
Virginia Screens for this number of disorders on it's NBS (+/- 4)
35
A previously fairly sick NICU baby who just finished a NEC treatment course of 10 days has a NBS positive for methylmalonic aciduria. Your next steps are...
Repeat after off TPN
Name the 4 main characters in the hit children's show "Bluey"
Bluey, Bingo, Bandit, Chilli
This 1999 comedy staring Julia Stiles and Heath Ledger is a remake of the Shakespearean play "The Taming of the Shrew"
This is the mechanism by which NBS is performed (think chemistry)
Tandem Mass Spectrometry (MS/MS). It utilizes two mass analyzers separated by a collision chamber, enabling laboratories to rapidly screen samples. Samples are broken down into progressively smaller fragments; these are sequentially sorted, weighed, and plotted on a histogram. The technology enables us to screen for disorders of fatty acid oxidation and organic acidemias in a matter of minutes. The additional benefit of this technology is improved sensitivity while still preserving low false-positive rates.
What genetic centers are involved in helping physicians interpret and order further testing for Virginia?
CHKD (Dr. Basinger), UVA, VCU, Children's National (D.C)
A worried parent comes into your office requesting help interpreting a whole-genome sequence test that they ordered to be done for their child who they are worried gets sick more often that others. They are worried about a variant on their child's test and want to know what that means. Discuss the risks/benefits of WGS.
WGS is much more broad than NBS, however you can have paternity discovering, variants of unknown significance, discovery of pathologic variants that the family/provider was not looking for.
Name the 3 main characters of Spidey and His Amazing Friends
Ghost Spider, Miles Morales, Spidey
This early 2000's movie starring Amanda Bynes as a soccer player is a remake of the Shakespearean Play "Twelfth Night"
She's The Man
These are the criteria for a test being included in NBS. (8)
• The disorder should pose an important health problem
• The natural history of the disorder should be well understood
• The disorder should be recognized at a latent or early symptomatic stage
• The test should be accurate, safe, reliable, inexpensive, and simple to administer
• The treatment should be effective with evidence of improved outcome with early treatment
• The program should be clinically, ethically, and socially acceptable
• There must be a system in place to confirm the disorder
• Follow-up care must be available to affected infants
Name 10 diseases screened for in Virginia
Argininosuccinic Aciduria
Citrullinemia, Type I
Classic Phenylketonuria
Homocystinuria
Maple Syrup Urine Disease
Tyrosinemia, Type I
Adrenoleukodystrophy
Carnitine Uptake Defect
Long-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency
Medium-Chain Acyl-CoA Dehydrogenase Deficiency
Trifunctional Protein Deficiency
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylcrotonyl-CoA Carboxylase Deficiency
Beta-Ketothiolase Deficiency
Glutaric Acidemia, Type I
Holocarboxylase Synthtase Deficiency
Isovaleric Acidemia
Methylmalonic Acidemia (Cobalamin Disorders)
Methylmalonic Acidemia (Methymalonyl-CoA Mutase Deficiency)
Propionic Acidemia
Congenital Adrenal Hyperplasia
Primary Congenital Hypothyroidism
Beta-Thalassemia
SC Disease
Sickle Cell Disease
Mucopolysaccharidosis Type-I
Pompe Disease
Adrenoleukodystrophy
Biotinidase Deficiency
Classic Galactosemia
Cystic Fibrosis
Severe Combined Immunodeficiency
Spinal Muscular Atrophy
I am a parent who brings their 8 day old into your office and you in pre-charting have discovered that my child tested positive for GALT. Counsel me.
A meaningful discussion requires adequate provider knowledge regarding the disease in question, attributes of the screening test (positive predictive value), and next steps in evaluation and/or treatment.
Reflex testing is already being performed
This channel specializes in 3D animation videos of traditional nursery rhymes and original children's songs. As of July 2025, it is the 3rd most-subscribed and 2nd most-viewed channel on YouTube.
CoComelon
This musical re-imagines Romeo and Juliet through the lives of the modern day Jets and Sharks.
West-Side Story