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Praveen Bhatt

The document provides information about newborn screening in Texas. It discusses that newborn screening tests for congenital disorders that could cause issues if not treated early. It screens for 27 disorders and aims to identify cases to prevent intellectual disabilities, illness, or death. It details the screening process in Texas, including that all babies receive two screens. It provides facts about screening rates and the follow up process for abnormal results. The goal is to identify cases early to allow for proper treatment and monitoring.

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Newborn Screening: Because you touch the future everyday
Purpose of Newborn Screening Screens 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 Can result in: Growth problems Developmental delays Behavioral/emotional problems Deafness or blindness Retardation Seizures Coma, sometimes leading to death
Texas Newborn Screening Facts Texas has been screening newborns since late 1963, pilot & beta testing done. It was required by law in 1965. PKU was first test available by using dried blood spot. Texas now tests for 27 disorders. All disorders are autosomal recessive disorders except Congenital Hypothyroid. CH has higher incidence in Hispanic females. Nationwide rate 1: 3,500; Texas rate 1:1,800
Texas Facts Continued Texas is 1 of 8 states currently requiring 2 NBS tests. Many states recommend 2nd NBS. NBS Program identifies about 10% of diagnosed cases on 2nd NBS. DSHS Lab processes 3000- 3.500 specimens per day.
Changes in NBS Program Lab and Case Management have gone to 6 day work week. Only Panic Codes will be called out on Saturdays DSHS Regional staff increased to assist in locating hard to find infants and referring to additional programs Lab using mailbox to speed up delivery of specimens
Abnormal/Normal Results Normal results: Mailer will be sent out by regular postal service. Typically received in submitting facility in 10 working days Abnormal results: Health care provider notified as soon as result is available and provider is located. Web Based system: NBS results available online when NBS completed-approx. 5 working days after receipt of specimen.
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Abnormal Specimen Case Management will send: Lab results for that disorder ACT sheet specific to that disorder FACT sheet for families List of Specialists
Abnormal Results for each disorder Panic Codes are reported to RN in NBS Case Management RN will notify MD ASAP. If MD unavailable RN will notify mother Abnormal Codes Health Tech will notify MD or facility Mother notified by letter
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Estimated Expansion Statistics Approximately 412,000 births a year Approximately 800,000 specimens a year collected Follow-up on approximately 15,000 abnormal screens a year Approximately 620 diagnosed cases per year Program will also identify about 300 secondary target disorders.
Sickle Cell Trait Newborn Screening Program began notifying parents of Sickle Cell Trait in December 2007. Program will identify approximately 10,000 infants with Sickle Cell Trait per year. Significance of Trait may need to be explained to parent.
Things Parents Should Know after Abnormal Screen This is a screen. There are presumptive positives & false negatives The newborn screen is designed to detect babies at risk before they have signs and symptoms Early detection and treatment results in prevention of irreversible complications There is often no family history. Siblings may not have history of any 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 American College of Medical Genetics guidelines
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 Premature and low weight babies are required to have screens in same time frame Take first screen before transfusion
This tear off sheet goes to parent: To remind them to get #2 screen To give to pediatrician
D r W i l l b e a b l e Doctor will be able to call into Labs Voice Response System or online data system to access results of 1st screen.
Forms ask for (in military time): Time of birth Time of collection
Circle #3 if any previous screen was abnormal. Enter DSHS Lab # if possible.
No additional blood spots required.
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MEDICAID vs PAID Use Medicaid Collection Card if: Mother is on Medicaid Medicaid is pending Charity You do not know if mother is on Medicaid
UNSAT: THE TOP 5
#5 Do not use Expired Forms Check Form Serial # Rotate stock Order new forms before old forms expire Destroy expired MEDICAID forms Send expired PAID forms back to DSHS lab for credit WILL NOT BE ABLE TO ACCEPT WRONG YEAR ON CARD
#4 Avoid Contaminants Waste first drop of blood Do not touch filter paper Dry flat 3-4 hours Do not put in plastic bag
Common Contaminants EDTA Do not use purple capped tubes Be careful of hand lotion Fingerprints will leave amino acids Alcohol Wipe dry after cleaning
#3 Mail specimen within 24 hours Do Not Batch Eliminate unnecessary Stops If someone is on vacation- assign to someone else
#2 Date of Collection Specimen cannot be processed without date of collection Do not punch or cover up barcodes Date of Birth/time of birth Other Demographic information is Important Mothers name, address good phone # for to call if abnormal Get MDs name if possible
#1 Get a good Blood Spot! Use proper lancet: approx 2.0mm Must soak through to other side of filter paper Get a good blood spot before moving onto the next spot Do not scratch or abrade paper Call the Lab for questions or problems
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Newborn Hearing Screening Hearing screening program Performed at birth facilities Follow up by audiologists Referred to Early Childhood Intervention if hearing loss is found About 3 babies per 1000 are born with hearing loss
Resources Available for Parents Newborn Screening Pamphlets may be ordered online. Available in English, Spanish & Vietnamese and are provided free of charge. Please call or e-mail NBS Program if other language is needed. March of Dimes Video available in English and Spanish. NBS Website.
Resources for Providers NBS Pamphlets Collection and Newborn Screening Program Video Collection posters NBS Newsletter NBS website Power Point presentations on Collection Online Provider Education On-site In-Services
http://www.dshs.state.tx.us/newborn/default.shtm
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  • 1. Newborn Screening: Because you touch the future everyday
  • 2. Purpose of Newborn Screening Screens 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
  • 3. If Untreated, Disorders Can result in: Growth problems Developmental delays Behavioral/emotional problems Deafness or blindness Retardation Seizures Coma, sometimes leading to death
  • 4. Texas Newborn Screening Facts Texas has been screening newborns since late 1963, pilot & beta testing done. It was required by law in 1965. PKU was first test available by using dried blood spot. Texas now tests for 27 disorders. All disorders are autosomal recessive disorders except Congenital Hypothyroid. CH has higher incidence in Hispanic females. Nationwide rate 1: 3,500; Texas rate 1:1,800
  • 5. Texas Facts Continued Texas is 1 of 8 states currently requiring 2 NBS tests. Many states recommend 2nd NBS. NBS Program identifies about 10% of diagnosed cases on 2nd NBS. DSHS Lab processes 3000- 3.500 specimens per day.
  • 6. Changes in NBS Program Lab and Case Management have gone to 6 day work week. Only Panic Codes will be called out on Saturdays DSHS Regional staff increased to assist in locating hard to find infants and referring to additional programs Lab using mailbox to speed up delivery of specimens
  • 7. Abnormal/Normal Results Normal results: Mailer will be sent out by regular postal service. Typically received in submitting facility in 10 working days Abnormal results: Health care provider notified as soon as result is available and provider is located. Web Based system: NBS results available online when NBS completed-approx. 5 working days after receipt of specimen.
  • 10. Abnormal Specimen Case Management will send: Lab results for that disorder ACT sheet specific to that disorder FACT sheet for families List of Specialists
  • 11. Abnormal Results for each disorder Panic Codes are reported to RN in NBS Case Management RN will notify MD ASAP. If MD unavailable RN will notify mother Abnormal Codes Health Tech will notify MD or facility Mother notified by letter
  • 14. Estimated Expansion Statistics Approximately 412,000 births a year Approximately 800,000 specimens a year collected Follow-up on approximately 15,000 abnormal screens a year Approximately 620 diagnosed cases per year Program will also identify about 300 secondary target disorders.
  • 15. Sickle Cell Trait Newborn Screening Program began notifying parents of Sickle Cell Trait in December 2007. Program will identify approximately 10,000 infants with Sickle Cell Trait per year. Significance of Trait may need to be explained to parent.
  • 16. Things Parents Should Know after Abnormal Screen This is a screen. There are presumptive positives & false negatives The newborn screen is designed to detect babies at risk before they have signs and symptoms Early detection and treatment results in prevention of irreversible complications There is often no family history. Siblings may not have history of any screened disorders
  • 17. 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 American College of Medical Genetics guidelines
  • 18. 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 Premature and low weight babies are required to have screens in same time frame Take first screen before transfusion
  • 19. This tear off sheet goes to parent: To remind them to get #2 screen To give to pediatrician
  • 20. D r W i l l b e a b l e Doctor will be able to call into Labs Voice Response System or online data system to access results of 1st screen.
  • 21. Forms ask for (in military time): Time of birth Time of collection
  • 22. Circle #3 if any previous screen was abnormal. Enter DSHS Lab # if possible.
  • 25. MEDICAID vs PAID Use Medicaid Collection Card if: Mother is on Medicaid Medicaid is pending Charity You do not know if mother is on Medicaid
  • 27. #5 Do not use Expired Forms Check Form Serial # Rotate stock Order new forms before old forms expire Destroy expired MEDICAID forms Send expired PAID forms back to DSHS lab for credit WILL NOT BE ABLE TO ACCEPT WRONG YEAR ON CARD
  • 28. #4 Avoid Contaminants Waste first drop of blood Do not touch filter paper Dry flat 3-4 hours Do not put in plastic bag
  • 29. Common Contaminants EDTA Do not use purple capped tubes Be careful of hand lotion Fingerprints will leave amino acids Alcohol Wipe dry after cleaning
  • 30. #3 Mail specimen within 24 hours Do Not Batch Eliminate unnecessary Stops If someone is on vacation- assign to someone else
  • 31. #2 Date of Collection Specimen cannot be processed without date of collection Do not punch or cover up barcodes Date of Birth/time of birth Other Demographic information is Important Mothers name, address good phone # for to call if abnormal Get MDs name if possible
  • 32. #1 Get a good Blood Spot! Use proper lancet: approx 2.0mm Must soak through to other side of filter paper Get a good blood spot before moving onto the next spot Do not scratch or abrade paper Call the Lab for questions or problems
  • 34. Newborn Hearing Screening Hearing screening program Performed at birth facilities Follow up by audiologists Referred to Early Childhood Intervention if hearing loss is found About 3 babies per 1000 are born with hearing loss
  • 35. Resources Available for Parents Newborn Screening Pamphlets may be ordered online. Available in English, Spanish & Vietnamese and are provided free of charge. Please call or e-mail NBS Program if other language is needed. March of Dimes Video available in English and Spanish. NBS Website.
  • 36. Resources for Providers NBS Pamphlets Collection and Newborn Screening Program Video Collection posters NBS Newsletter NBS website Power Point presentations on Collection Online Provider Education On-site In-Services