Notes in LE017 Newborn Screening

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Published	10/06/2024	What are the 5 New Born Screening (NBS) Criteria?
Published	10/06/2024	Screening tests often have a high {{c1::false positive}} rate and thus do not on their own consitute a diagnosis
Published	10/06/2024	Sensitivity is the fraction of (affected/unaffected) {{c1::affected}} individuals who screen (positive/negative) {{c1::positive}} Sensitivity =&n…
Published	10/14/2024	Specificity is the fraction of (affected/unaffected) {{c1::unaffected}} individuals who screen (positive/negative) {{c1::negtive}} Specificity =&…
Published	10/06/2024	Positive predicitve value (PPV) is the fraction of (screen+/screen-) {{c1::screen+}} individuals who are (unaffected/affected) {{c1::affected}}PPV = {…
Published	10/06/2024	The recommeneded uniform screening panel (RUSP) is a list of {{c1::35}} core conditions and {{c1::26}} secondary conditions all of which meet the {{c1…
Published	10/06/2024	Phenylketonuria (PKU) is one of the RUSP {{c1::core}} conditions
Published	10/06/2024	PKU: caused by a deficiency in {{c1::phenylalanine hydroxylase (PAH)}} in 98% of casesThe {{c1::tetrahydrobiopterin metabolism}} pathway contributes 2…
Published	10/06/2024	PKU is diagnosed by elevated {{c1::Phe}} (>1200 uM), low {{c1::Tyr}}, and normal {{c1::blood biopterin or urine pterins}}
Published	10/06/2024	NBS testing for PKU utilizes {{c1::tandem mass spectrometry}}. Elevated {{c1::Phe}} and {{c1::Phey/Tyr ratio}} reveals PKU
Published	10/06/2024	The ACMG NBS {{c1::ACT}} sheet provides information about confrimatory testing and algorithms following a positive NBS test result
Published	10/06/2024	Consider the case of a newborn of 24hr of age with positive NBS test for PKU and elevated Phe (410 uM, normal:<152 uM) and elevated Phe:Tyr (3.02, …
Published	10/06/2024	Ornithine Transcarbamylase (OTC) deficiency Diagnosis: hyperammonemia {{c1::>1000mg/dL}} (normal 15-45), elevated {{c1::ornithine}}, low {{c1:…
Published	10/06/2024	NBS suspected OTC deficiency. What should you do next?
Published	10/06/2024	Confirmation of screen-positive cases for OTC:MS/MS findings are (consistent/inconsistent) {{c1::inconsistent and not always reliably quantified (many…
Published	10/06/2024	OTC confirmatory DNA sequencing is often done by confirming {{c1::copy number variants (CNVs)}} with NGS
Published	10/06/2024	Clinical validity: {{c1::accuracy at which a test identifies a patient's clinical status}}Accuracy = {{c1::TP+TN/(TP+FP+TN+FN)}}
Published	10/06/2024	Clinical utility is {{c1::the risks and benefits resulting from test use}}
Published	10/06/2024	Cystic fibrosis NBS is an immunoreacitve trypsinogen (IRT) test from DBSIt is diagnosed by a {{c1::sweat test}} and by looking at {{c1::DNA (there are…
Published	10/14/2024	Methylmalonic acidemia (MMA) is a rare metabolic disease confirmed by genetic screening.  Highly {{c1::variable}} clinical phenotype…
Published	10/10/2024	Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) {{c1::C14:1-acylcarnitine}} marker declines with postnatal age, MS/MS confirm…
Published	10/10/2024	Glutaric acidemia type 1 (GA1) High false positive rate of {{c1::> 95%}} at a ratio of 29 infants without the disorder to 1 infant wi…
Published	10/06/2024	{{c1::False positive rates}} are a central challenge in newborn screeningGA1 notoriously has a PPV of 3%
Published	10/06/2024	Blood metabolite levels are influenced by clincial variables (covariates) such as
Published	10/10/2024	{{c1::Random forest}} reduced the number of false-positives by integrative analysis of the entire metabolic profileThis is because {{c1::RF can analyz…
Published	10/06/2024	A big limitation of standard screening is that it can only detect diseases that result in {{c1::biochemical change}}
Published	10/06/2024	Part of the controversy of NBS is that no {{c1::parental consent}} is obtainedThis is because in the case of diseases which have {{c1::effective treat…
Published	10/06/2024	For NBS, the State provides . . . (3)
Published	10/06/2024	Problematic recent introductions to NBS: Krabbe disease screening in NYFirst 8 years of testing revealing high {{c1::rate of referrals}}, most of whic…
Published	10/06/2024	Problematic recent introduction to NBS:X-linked adrenoleukodystrophy (X-ALD)Mode of inheritance: {{c1::X-linked}}. Variable phenotype with childhood o…
Published	10/06/2024	Problematic recent introduction to NBS:Pompe DiseaseVariable phenotype with {{c1::infantile-}} (28%) or {{c1::late}}-onsetInitial test had high false-…
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