Newborn Screening Programs in District of Columbia

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Since 1980, the mission of the District of Columbia Newborn Screening Program is to detect, diagnose, and treat every newborn baby who tests positive for certain inherited genetic disorders. This program can mean the difference between life and death for a newborn. It can also prevent life-threatening complications and serious chronic consequences such as mental retardation, developmental disability, liver disease, blindness, neurological degeneration, malnutrition, and death. The vision of the Newborn Metabolic Screening Program in the District of Columbia is that all newborns are screened for metabolic disorders prior to hospital discharge. The Program’s purpose is to require all hospitals in the District of Columbia to screen for 40 inherited genetic disorders that are treatable by diet, vitamins and/or medication, or by anticipatory measures to prevent attacks.

The overall goal of the Program is to ensure that every infant born in the District is screened for 40 inherited genetic disorders and that infants identified with abnormal screening results receive timely and appropriate follow-up, to treat inherited diseases before the onset of clinical symptoms.

Program Objectives:

  • To assure that all infants born in the District of Columbia are screened and that testing is processed within 5 days of birth.
  • To assure that all families and affected infants receive timely and appropriate confirmatory testing, counseling, and treatment.
  • To assure that all newborns diagnosed with a metabolic disease or hemoglobinabnormality are entered into and maintained on appropriate medical therapy.

[edit] Disorders Screened

Final rulemaking to amend DC Law 3-65 was published and made effective on November 4, 2005. The amendment expands the current panel of newborn screening disorders in the District of Columbia from seven to 40 disorders. The expanded panel includes screens for inherited hemoglobinopathies and 39 metabolic disorders. Every infant born in a District of Columbia hospital and birthing center will be screened for the following disorders. See the consumer fact sheet on newborn screening for a brief description of the diseases.

  1. 2,4-Dienoyl-CoA reductase deficiency
  2. 2-Methylbutryl-CoA dehydrogenase deficiency
  3. 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC)
  4. 3-Methylglutaconyl-CoA hydratase deficiency
  5. 3-OH 3-CH3 glutaric aciduria or 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG)
  6. 5-Oxoprolinuria (pyroglutamic aciduria)
  7. Argininemia
  8. Argininosuccinic acidemia (ASA)
  9. Beta-ketothiolase deficiency (BKT)
  10. Biotinidase deficiency (BIOT)
  11. Carbamoylphosphate synthetase deficiency (CPS def.)
  12. Carnitine uptake defect (CUD)
  13. Citrullinemia (CITR)
  14. Congenital adrenal hyperplasia (CAH)
  15. Congenital hypothyroidism
  16. Cystic fibrosis (CF)
  17. Galactosemia
  18. Glucose-6-Phosphate dehydrogenase deficiency (G6PD)
  19. Glutaric acidemia type I (GA-I)
  20. Hemoglobinopathy
  21. Homocystinuria
  22. Hyperammonemia, hyperornithinemia, homocitrullinemia syndrome (HHH)
  23. Hyperornithine with gyrate deficiency
  24. Isobutyryl-CoA dehydrogenase deficiency
  25. Isovaleric acidemia (IVA)
  26. Long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCHADD)
  27. Malonic aciduria
  28. Maple syrup urine disease (MSUD)
  29. Medium chain acyl-CoA dehydrogenase deficiency (MCADD)
  30. Methylmalonic acidemia
  31. Multiple acyl-CoA dehydrogenase deficiency (MADD)
  32. Multiple carboxylase deficiency (MCD)
  33. Neonatal carnitine palmitoyl transferase deficiency-type II (CPT-II)
  34. Phenylketonuria (PKU)
  35. Propionic acidemia (PROP)
  36. Short chain acyl-CoA dehydrogenase deficiency (SCAD)
  37. Short chain hydroxy acyl-CoA dehydrogenase deficiency (SCHAD)
  38. Trifunctional protein deficiency (TFP)
  39. Tyrosinemia type I (TYRO-I)
  40. Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

[edit] Procedures and Follow-Up

Every live born infant shall have an adequate blood test for all disorders defined in the District of Columbia Newborn Screening Requirement Act upon informed consent by the parent. The initial screening is to be done in the hospital and may be repeated, as necessary, prior to discharge. When a live birth occurs in a hospital or birthing center, the physician shall have a blood specimen by filter paper of the infant’s blood taken prior to the infant’s discharge from the hospital or birthing center. The infant’s blood for these tests shall be collected not earlier than 24 hours after the first feeding following birth and no later than when the infant is one week old. If the infant born in a hospital or birthing center is discharged before 48 hours after birth, a blood specimen shall be collected prior to discharge.

In this case, the newborn must be tested again prior to one week of age. The hospital or birthing center should provide written notice of this requirement to the parents, guardian, or other legally responsible person. The hospital or birthing center must inform the parent about the purpose of testing and must document in the newborn’s health record that the parent was educated about the test and that the parent gave consent or non-consent to test. Each specimen is forwarded to a single laboratory designated by the Mayor, in accordance with the DC Newborn Screening Law. The blood sample and the required patient information must be sent to the approved laboratory on the day of collection for an adequate test.

The laboratory performing blood tests for the purpose of satisfying legal requirements for testing newborns shall report all such test results to the hospital where the birth occurred. The results shall be part of the infant’s medical record. The laboratory shall report all results to the Department of Health, Maternal and Family Health Administration, Children with Special Health Needs Division’s Metabolic Screening Program on the day testing is completed of all positive and inconclusive test results and this report shall include the patient’s required information.

The Children with Special Health Needs (CSHCN) Newborn Metabolic Screening Program notifies the infant’s parent(s) and the newborn’s physician about abnormal findings, and assists in securing appropriate follow-up testing and treatment when indicated. CSHCN refers critical infants to specialists within the District of Columbia that offer evaluation, treatment and counseling services. Specialty centers for endocrinology, hematology, and medical genetics are located throughout the District of Columbia. For newborns with presumptive positive results (except for G6PD and Sickle Cell Trait), the following steps should be taken by CSHCN to notify parents/guardians and follow-up with confirmation of the screening result and intervention as needed:

  • Notify newborn’s parent(s)/guardian by telephone within 24-48 hours following receipt of abnormal screen result from the laboratory.
  • Recommend immediate pediatric/primary physician/clinic appointment.
  • Recommend immediate evaluation by a Specialty Treatment Center.
  • Recommend family testing and counseling.
  • Verify infant’s demographic information.
  • Obtain name, telephone number, and address of the infant’s physician.
  • Assist with scheduling physician appointment.
  • If there is no designated physician, seek a physician or refer the infant directly to a Special Treatment Center.
  • If mother’s telephone number is disconnected or incorrect, call the birthing hospital/maternity center to verify the telephone number or request telephone numbers of other family members to contact.
  • If unable to locate and DC address is located in Ward 5, 6, 7, or 8, equest DC Healthy Start to make a home visit. For other DC Wards, contact DC Medicaid to obtain additional information.
  • If unable to locate and residence is in Maryland or Virginia, contact MD or VA Newborn Screening Program for assistance.
  • Document each telephone contact with family, including name of contact persons, address, telephone number, date, and time. Enter information into DC Newborn Screening case management information system (in development).
  • Send Parent Letter and disorder fact sheet by mail. Document mailing date.
  • Follow-up with mother/physician to assure that doctor appointments are kept. If doctor appointments have not been kept, assist the parent in scheduling and maintaining appointments. If after counseling the parent on the impact of lack of follow-up care and the parent still fails to comply, referral to Child Protective Services should be made.
  • Notify newborn’s pediatric/primary care physician by telephone within 24-48 hours following receipt of abnormal screening result from the laboratory.
  • Recommend immediate pediatric/primary care physician appointment
  • Recommend immediate evaluation by specialty treatment center.
  • Recommend family testing and counseling.
  • If physician is unavailable, report all information to office/clinic nurse.
  • Assist with scheduling physician appointment for infant and report back to mother by telephone.
  • Obtain name of preferred Specialty Treatment Center. Fax Specialty Treatment Center Referral form to the Specialist, if necessary.
  • Fax PerkinElmer Genetics Test Result Report, Physician Letter, Physician Alert, and List of Specialty Centers. Request that test results and supporting information are included in the infant’s medical record.
  • Document each telephone contact with physician/nurse, including name, address,telephone number, date and time, and Fax date. Enter information into the DC Newborn Screening case management information system.
  • Contact the Specialty Treatment Center within two weeks for follow-up.
  • Obtain final diagnosis, name of treatment, and treatment start date. Enter information into DC Newborn Screening case management information system.
  • For non-compliant family, contact infant’s parents and physician, social worker, outreach worker, or other medical, social, or financial personnel as appropriate.

For newborns screening positive for Sickle Cell Trait and G6PD, the following steps should be taken to notify parents/guardians and follow-up with confirmation of the screening result and intervention as needed:

  • Refer infant for follow-up testing and counseling.
  • Notify the newborn’s parents by mail within 48 hours following receipt of screening result from the laboratory.
  • For those with Sickle Cell Trait, mailing includes Parent Letter and Sickle Cell Trait fact sheet.
  • For those with G6PD, mailing includes parent letter, parent alert, physician alert, and G6PD fact sheet.
  • Recommend confirmatory testing of infant. Infants with G6PD should be retested between six and 12 months of age.
  • Recommend parent testing and counseling by family physician and genetic counselor.

In the event that unacceptable results are returned, the following steps should be taken to notify the parents/guardians and re-schedule a second screening:

  • The laboratory contacts the submitting hospital to request a repeat screen. The

submitting hospital is responsible for repeating unacceptable samples.

  • The laboratory notifies the CSHCN of the unacceptable result.
  • The submitting hospital is responsible for contacting the newborn’s parent(s) to

arrange for a repeat/second screen.

  • The submitting hospital shall submit a second screen to the laboratory before the

infant is one week old.

  • CSHCN will notify the newborn’s parent(s) by mail within 48 hours following receipt

of the unacceptable screening result from the laboratory.

  • CSHCN will follow-up with the infant’s parent(s), hospital and/or laboratory within

one week to confirm repeat screen and obtain results.

For more information on the DC Newborn Screening Program, contact the DC Department of Health at (202) 671-5000.

[edit] References

Genetic Alliance. 2007. Understanding Genetics: A Guide for Patients and Healt Care Professionals. http://www.geneticalliance.org/ws_display.asp?filter=pubs.understanding.genetics

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