Newborn Screening

Category: Others/ Misc

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Slide 1: 

Newborn Screening: Because you touch the future everyday

Purpose of Newborn Screening : 

Purpose of Newborn Screening Program to screen for congenital and heritable disorders These disorders may cause severe mental retardation, illness, or death if not treated early in life If treated, infants may live relatively normal lives Results in savings in medical costs over time

If Untreated, Disorders : 

If Untreated, Disorders Can result in: Growth problems Developmental delays Behavioral/emotional problems Deafness or blindness Retardation Seizures Coma, sometimes leading to death

NBS Screening : 

NBS Screening Identification is a multi-step process Blood specimens from infants are analyzed by the laboratory If a result is abnormal, laboratory staff notifies case management staff Case management provides follow-up to assist linking families with appropriate providers to Confirm the test results and Ensure the infant has the disorder prior to treatment Ensure the infant receives appropriate treatment

Results from Lab : 

Results from Lab Normal Screen Results Results are sent to submitter when all test are final Abnormal results Results are reported to Case Management as soon as available for that disorder

Abnormal Resultsfor each disorder : 

Abnormal Resultsfor each disorder High Panic Codes are reported to RN in NBS Case Management RN will notify MD ASAP. If MD unavailable RN will notify mother Low Panic Codes Health Tech will notify MD or facility Mother notified by letter

Abnormal Specimen : 

Abnormal Specimen Case Management will send: Lab results for that disorder ACT sheet specific to that disorder FACT sheet for families List of Metabolic Specialists

Slide 11: 

Newborn Screening ACT Sheet [Absent/Reduced biotinidase activity] Biotinidase Deficiency  Differential Diagnosis: Biotinidase deficiency; see C5-OH for non-biotinidase associated conditions. Metabolic Description: Biotinidase deficiency results from defective activity of the biotinidase enzyme. When identified (possibly) through elevated C5-OH, 3-hydroxyisovaleric acid and 3- methylcrotonylglycine are elevated and holocarboxylase synthase deficiency must be considered.   You Should Take the Following IMMEDIATE Actions: §         Contact family to inform them of the newborn screening result and ascertain clinical status (poor feeding, lethargy, hypotonia). §         See and evaluate infant. §         Consultation/referral to a metabolic specialist to determine appropriate follow-up. (See attached list) §         If infant cannot be seen immediately at metabolic specialist, undertake confirmatory testing in consultation with a metabolic specialist. §         Initial testing: enzyme assay for biotinidase §         Repeat newborn screen if second screen has not been done. §         Emergency treatment if symptomatic. §         Report findings to newborn screening program. Confirmation of Diagnosis: Enzyme assay for biotinidase reveals low activity. Plasma acylcarnitine analysis may show normal or increased 3-hydroxyisovaleric acid and 3-methylcrotonylglycine. C5-OH acylcarnitine may be high but lack of an abnormal acylcarnitine profile does not rule out biotinidase deficiency.   Clinical Expectations: The neonate is usually asymptomatic but episodic hypoglycemia, lethargy, hypotonia, and mild developmental delay can occur at any time from the neonatal period through childhood. Untreated biotinidase deficiency leads to developmental delay, seizures, alopecia, and hearing deficits. Biotin treatment is available and highly effective.   Reporting: Report diagnostic result to family and NBS program.   Additional Information: Gene Tests OMIM Genetics Home Reference Example

Estimated Expansion Statistics : 

Estimated Expansion Statistics Approximately 400,000 births a year Approximately 800,000 specimens a year collected Follow-up on approximately 15,000 abnormal screens a year Approximately 600 diagnosed cases per year

Current Legislation & Rules : 

Current Legislation & Rules Requires newborn screening on 27 disorders 6 Amino acid disorders including PKU 5 Fatty acid oxidation disorders 9 Organic acid disorders Galactosemia-1-phosphate uridyltransferase deficiency Biotinidase deficiency 3 Sickling hemoglobinopathies, including sickle cell disease 2 Endocrine disorders

Texas babies are mandated to have 2 newborn screens : 

Texas babies are mandated to have 2 newborn screens The first screen at 24-48 hours or before leaving hospital, whichever is first The second screen at 1-2 weeks of age

Slide 17: 

NICU Babies First screen must be taken 24-48 hours of life regardless of feeding status or weight

Tandem Mass Spectrometer (MS/MS) : 

Tandem Mass Spectrometer (MS/MS) Molecules are sorted & weighed by mass Compounds analyzed are amino acids & acylcarnitines Amino acids: building blocks for proteins Acylcarnitine= Carnitine (vehicle) +fatty acid Identified by size of fatty acid: short, medium, long and designated by initials & numbers

Expanded Newborn Screening : 

Expanded Newborn Screening In 2005 HB790 was passed requiring expansion of the newborn screening program using the ACMG (American College of Medical Genetics) recommended panel as funds allowed

Criteria for screened disorders : 

Criteria for screened disorders Disorder occurs with significant frequency Test are inexpensive and reliable Effective treatment/intervention exists If untreated, baby may die or develop severe retardation Affected baby may appear normal at birth

Organic Acid Metabolism Disorders : 

Organic Acid Metabolism Disorders IVA - Isovaleric acidemia GA I – Glutaric acidemia type I HMG – 3-OH 3-CH3 glutaric aciduria MCD – Multiple carboxylase deficiency MUT – Methylmalonic acidemia (mutase def) 3MCC – 3-Methylcrotonyl-CoA carboxylase deficiency Cbl A,B – Methylmalonic acidemia PROP – Propionic acidemia BKT – Beta-ketothiolase deficiency

Fatty Acid Oxidation Disorders : 

Fatty Acid Oxidation Disorders MCAD – Medium-chain acyl-CoA dehydrogenase deficiency VLCAD – Very long-chain acyl-CoA dehydrogenase deficiency LCHAD – Long-chain L-3-OH acyl-CoA dehydrogenase deficiency TFP – Trifunctional protein deficiency CUD – Carnitine uptake defect

Amino Acid Metabolism Disorders : 

Amino Acid Metabolism Disorders PKU – Phenylketonuria MSUD – Maple syrup urine disease HCY – Homocystinuria CIT – Citrullinemia ASA – Argininosuccinic acidemia TYR I – Tyrosinemia type I

Hemoglobinopathies : 

Hemoglobinopathies SCA – Sickle cell anemia Hb S/Th – Hb S/ Beta-thalassemia Hb S/C – Hb S/C disease

Others : 

Others HYPOTH – Congenital hypothyroidism BIOT – Biotinidase deficiency CAH – Congenital adrenal hyperplasia GALT – Galactosemia HEAR – Hearing deficiency

Slide 27: 

This tear off sheet goes to parent: To remind them to get #2 screen To give to pediatrician

Slide 28: 

Dr Will be able to cal Doctor will be able to call into Lab’s Voice Response System to access results of 1st screen.

Slide 30: 

New Screen will not require additional blood spots

Slide 32: 


#5 : 

#5 Do not use Expired Forms Check Form Serial # Rotate your stock Celebrate the New Year by sending back expired forms

#4 : 

#4 Avoid Contaminants Do not touch filter paper EDTA Do not use purple capped tubes Be careful of hand lotion Dry flat 3-4 hours Do not put in plastic bag

#3 : 

#3 Mail specimen within 24 hours Do Not Batch Eliminate unnecessary Stops If someone is on vacation- assign to someone else

#2 : 

#2 Date of Collection Specimen cannot be processed without date of collection Date of Birth New forms will also ask for time of birth Other Demographic are Important Get mother’s name, address Get a good phone # for someone to call if abnormal Get MD’s name if possible

#1 : 

#1 Get a good Blood Spot! Must soak through to other side of filter paper Do not scratch or abrade paper

Slide 38: 


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