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Parents / Providers Information

Parents:

Congratulations on your new addition! Your new bundle of joy is finally here or will be here soon and by now you are getting acquainted with each other. You’ve probably already experienced the hospital staff coming in to take your baby for routine tests and checkups to ensure your baby gets off to a healthy start. A crucial part to your baby’s healthy development will be their newborn screening. This website will provide detailed information about your baby’s newborn screening.

What is Newborn Screening?

This screening is designed to test drops of your baby’s blood for heritable disorders that would result in disability or death. Newborn screening is a preventive measure that may protect your baby from the possible disorders. The Georgia Newborn Screening Program has been saving lives and protecting babies for over two decades now. Georgia law (OCGA 31-12-6 & 31-12-7) and Rules and Regulations (Chapter 290-5-24) requires that every live born infant have an adequate blood test to screen for 28 disorders.

Why is Newborn Screening Necessary?

Most babies appear healthy and show no signs of being sick right after birth. Newborn blood screening can identify diseases early so that treatment, including medications or special formulas can be given to your baby, allowing them to have the best chance at a healthy and happy new beginning.

What is Your Baby Screened for?

Georgia’s Newborn Screening Panel

Organic Acid Disorders

 

Beta Ketothiolase (BKT)
Cobalamin A and B Deficiency (Cbl A,B )
Glutaric Acidemia type I
3OH 3-CH3 Glutaric Aciduria (HMG)
Isovaleric Acidemia (IVA)
3 Methylcrotonyl-Co A Carboxylase Deficiency (3MCC)
Multiple Carboxylase Deficiency
Methylmalonic Acidemia (MMA)
Propionic Acidemia

Fatty Acid Oxidation Disorders

 

Caritine Uptake Defect
Long Chain 3 hydroxyl acyl-CoA dehydrogenase Deficiency
Medium Chain acyl-CoA dehydrogenase Deficiency
Trifunctional Protein Deficiency
Very Long chain acyl-CoA dehydrogenase Deficiency

Amino Acid Disorders

Argininosuccinic Acidemia
Citrullinemia
Homocystinuria
Maple Syrup Urine Disease
Phenylketonuria
Tyrosinemia

Hemoglobinopathy Disorders

Sickle Cell Disease
Sickle SC Disease
Sickle Beta Thalassemia

Other Disorders

 

Biotinidase
Congenital Adrenal Hyperplasia
Congenital Hypothyroidism
Cystic Fibrosis
Galactosemia

 

Other Screening Tests Include:

Hearing Loss: Most babies do not have hearing loss, but it is important to be sure as early as possible. Early testing allows for early treatment, if hearing loss is detected. Early treatment can provide earlier sound stimulation for your baby’s brain. Visit the Universal Newborn Hearing & Screening page for more information.

What Should You Expect?

  • The test is usually performed within the first couple of days of your baby’s life.
  • Your baby’s heel will be pricked to obtain several drops of blood.
  • You will receive a pink parent slip after the test is done to give to your baby’s doctor at baby’s first doctor visit.
  • Your baby’s blood samples will be sent to the state lab for screening.
  • The results of your baby’s screen will be sent to your doctor and hospital.
  • You can expect to talk about the results at your baby’s first doctor visit.

Next steps

  • Positive Results: Your baby’s doctor will contact you and inform you of the next steps. In many cases further testing will be needed.
  • Borderline results: Newborn screening staff will contact your baby’s doctor to inform them of this result. The physician’s office will contact you to arrange an appointment for repeat testing.
  • Normal Results: Results are saved in the system with no further action required unless advised by your baby’s doctor.

Important Reminders:

  • If you are asked to bring your baby in for retesting, do it as soon as you can. If a problem exists, quick action is very important.
  • Make sure your correct contact information is given to the hospital where your baby is born
  • Give the name and phone number of the doctor who will take care of your baby after leaving the hospital so that information can be written on your baby’s screening card.
  • At your baby’s first visit, give the doctor the pink parent slip you received after your baby’s test was done, as a reminder to check your baby’s results.

Birthing Center Births

  • If you plan to have your baby at a birthing center, your midwife or attendant that delivers your baby will tell you where and when to get your babies blood spot and hearing test.

 


Providers:

Georgia law directs that a statewide network for genetics services be developed as a cooperative effort between public health, appropriate medical centers and private practitioners. Achieving the goals of the Newborn Screening Program is dependent upon coordinated, systematic efforts from the following groups:

The Georgia Newborn Screening Program is administered by the Georgia Department of Public Health (DPH), Division of Public Health (DPH). The program is responsible for the following:

  1. Oversight of the newborn screening system, including managing all follow-up contracts.
  2. Monitoring and evaluating newborn screening practices.
  3. Developing a quality control program.
  4. Electronic data surveillance and tracking system, including maintenance of long term results.
  5. Facilitating communication between practitioners, the laboratory personnel and the follow-up team.
  6. Providing ongoing education for practitioners.
  7. Reporting results to state and federal officials and to the public.

Hospitals are responsible for the collection, labeling and mailing of the first screening specimens, and for informing the parents or guardian both verbally and in writing when a second specimen should be collected prior to one week of age.

The Practitioners are responsible for prompt collection and submission of repeat specimens if indicated, by screening results or timing of first specimen; medical care; provision of parent education, support and when needed, referral to specialty care.

The Georgia Public Health Laboratory is responsible for specimen analysis, record keeping (as per CLIA (88) requirements), quality control of laboratory methods and notification of results to hospitals, practitioners and follow-up programs.

The Follow-up Programs are responsible for tracking abnormal screening results, diagnosed cases, linking confirmed cases to appropriate medical care and serving as a source of information about the newborn screening disorders for practitioners, parents and consumers. The Metabolic Follow-up Programs are coordinated by the Division of Medical Genetics at Emory University. The Sickle Cell Disease Follow-up Programs are coordinated by the Newborn Screening Unit at the Georgia Department of Public Health and Sickle Cell Center at Georgia Regents University Hospital.

What is the fee?

The fee is $50 for each initial specimen submitted to the Georgia Public Health Laboratory for newborn screening. The Georgia Public Health Laboratory began invoicing for newborn screening on January 1, 2007. The invoices are mailed weekly. The first specimen submitted for every infant will be billable regardless of the submitter. Additional specimens submitted will be considered “repeat specimens” and will either be invoiced or processed free of additional charge as specified in the discussion of repeat specimens, below.

Will there be a fee for a repeat newborn screen?

There will not be a fee for the following circumstances:

  1. No data or no blood on Form
  2. Second collection, initial specimen collected at <24 hours
  3. Prior abnormal result, repeat requested by GPHL or NBS Follow-Up Program
  4. GPHL Error
  5. Pediatrician or other provider mandatory collection, including
    • Repeat specimen: 1st specimen taken before 24 hours
    • Repeat specimen: prior abnormal result
    • Repeat specimen: premature or low birth weight specimen at 4 weeks of age
    • Infant has had blood transfusion, 2 repeat specimens

There will be a fee for the following circumstances:

  1. Prior unsatisfactory specimen from same submitter
  2. General provider request, (see above exceptions)
  3. Neonatal Intensive Care Unit (NICU); > 2 specimens per infant
  4. Failure to use the UPS transportation system in a timely manner resulting in specimen arrival at GPHL more than seven (7) days after collection (batching specimens, for example)