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Maternal and Child Health

Newborn Screening

Background:

All infants born in Tennessee must have a newborn screening specimen submitted to the Tennessee State Laboratory to be screened for certain genetic conditions. If tests are abnormal, the Department of Health follows up with the baby’s doctor to initiate retesting, confirmation and treatment from a specialist if necessary. Early diagnosis and treatment can make the difference between a child leading a relatively normal life or having more significant developmental delays; long-term health care needs, or even death. This is a screening test that can be affected by baby's age, medical or treatment status at the time of specimen collection; the quality and quantity of the specimen or other variables and may not detect all affected infants. The possibility of false negative or false positive results must always be considered when screening newborns for metabolic disorders.

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Accessing Services

All infants born in Tennessee should have the newborn screening filter paper collected prior to leaving the hospital. Tests may need to be repeated for a number of reasons including being improperly collected, the infant received a blood transfusion, the specimen was collected when the baby was less than 24 hours of age or a possible disorder is indicated. Parents can contact the baby’s doctor or the local health department to schedule follow-up testing. Tennessee has a comprehensive genetics program that provides access to genetic screening, diagnostic testing, and counseling services for individuals and families who have, or are at risk for, genetic disorders.

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For Parents

Most newborns are born healthy and normal. However, there are some health problems that may not be detected on a routine exam by your baby's physician. This is why blood tests are used to screen newborns for these problems. A filter paper blood spot sample is required by state law to be submitted to the Tennessee State Laboratory for every baby born in Tennessee. A newborn baby may look perfectly healthy, but still have an inherited disease. To prevent the effects of disease, the sample should be drawn during the infant's first two to three days of life.

How and Where Your Baby is Tested?
Before your baby leaves the hospital nursery, his or her heel will be pricked and a few drops of blood will be collected. This blood specimen will be sent to the State Laboratory in Nashville for testing. The hospital will also provide you with a Parent Pamphlet giving you more details about newborn screening.

What Happens to the Extra Blood after the Test?
The extra blood is stored at the Department of Health Laboratory for one year. It is stored in case the blood is requested by you or the baby’s doctor in the future. The lab also uses it to do quality checks, to make sure the machines are working right or to evaluate new tests to help more babies in the future. Stored blood used for these reasons will have name, address and other information removed so the sample cannot be traced back to your baby.

What is the Parents' Role?
After you get home from the hospital, you may be contacted by your baby's doctor or the local health department to bring your baby in for a repeat blood sample. It is important that you follow-up quickly. If you have any concerns about the results of the screening tests, please contact your baby's health care provider.

Disease Descriptions for Parents:

  • Amino Acid Disorders Description: pdf button
  • Biotinidase Deficiency Description: pdf button
  • Congenital Adrenal Hyperplasia Description: pdf button
  • Congenital Hypothyroidism Description: pdf button
  • Critical Congenital Heart Disease (CCHD) Description: pdf button
  • Cystic Fibrosis Description: pdf button
  • Fatty Acid Oxidation Disorders Description: pdf button
  • Galactosemia Description: pdf button
  • Hemoglobinopathies (Sickle Cell Anemia) Description: pdf button
  • Homocystinuria Description: pdf button
  • Maple Syrup Urine Disease (MSUD) Description: pdf button
  • Medium Chain Acyl CoA Dehydrogenase (MCAD) Deficiency Description: pdf button
  • Organic Acid Disorders Description: pdf button 
  • Phenylketonuria (PKU) Description: pdf button

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For Providers

Primary Care Provider:
It is the providers’ responsibility to make sure the newborn has had a screen, reviewed and interpreted results with respect to blood transfusion and diet status. Also providers should inform parents of results. If a specimen is unsatisfactory or abnormal it is the responsibility of parents and providers to obtain a repeat specimen once notified. The screening results will be mailed to the submitter of the specimen and to the provider listed on the newborn screening form.

If results are unsatisfactory (poor collection) both the provider and parents will receive a letter from the newborn screening follow up program requesting a repeat specimen to be submitted. If the results are abnormal and show a possible disease, follow up notifies the provider and tertiary center by phone and fax. Appropriate recommendations are made based on the result. Once notified please contact the parent as soon as possible to help facilitate rescreening.  The follow up program along with the tertiary center ensures patient has confirmatory testing, diagnosis and treatment when necessary. An abnormal case is followed closely until the case is closed with confirmed diagnosis or is shown to be normal.

This is a screening test that can be affected by baby's age, medical or treatment status at the time of specimen collection; the quality and quantity of the specimen or other variables and may not detect all affected babies. The possibility of false negative or false positive results must always be considered when screening newborns for metabolic disorders. Regardless of the results of the newborn screen, the child’s health care provider should proceed with diagnostic testing on any infant exhibiting clinical signs and symptoms.

Tennessee Newborn Screening’s Secure Remote Viewer (SRV):
The Newborn Screening Program now has screening results available for healthcare providers to view and print via the web. SRV is a web based application which will allow you to view digital copies of the patient result reports. This will take the place of the current Voice Response System (VRS) that providers call to get results using their physician license number. Healthcare providers must be registered with the Department of Health in order to gain access to the SRV.

If you would like access to the system please fill out the SRV Access Form (PH-3909) and FAX it to (615) 532- 8555. An email address is required. Once this form is received, you will be notified via email of your Username and Password. The email will not include the link to the SRV website for security purposes. Please log into the State of Tennessee Newborn Screening Program Results Website to access the SRV once you receive your Username and Password.

What is the blood spot storage policy?
Please see Tennessee Laboratory Services for the official Newborn Screening Specimen Use, Retention and Disposal Policy.

Disease Descriptions for Providers:

  • Amino Acid Disorders Description: pdf button
  • Biotinidase Deficiency Description: pdf button
  • Congenital Adrenal Hyperplasia Description: pdf button
  • Congenital Hypothyroidism Description: pdf button
  • Critical Congenital Heart Disease (CCHD) Description: pdf button
  • Fatty Acid Disorders Description: pdf button
  • Galactosemia Description: pdf button
  • Hemoglobinopathies (Sickle Cell Anemia) Description: pdf button
  • Organic Acid Disorders Description: pdf button
  • Phenylketonuria (PKU) Description: pdf button

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Hospitals and Birthing Facilities:
By law, all infants born in Tennessee must have a newborn screening submitted to the Tennessee State Laboratory. It is the hospitals responsibility to fill out the collection form completely and accurately and to submit a satisfactory newborn screen on all infants prior to discharge regardless of age.  Rules and regulations state that it is the responsibility of the hospital to distribute “Your Baby and Newborn Screening”, an educational pamphlet to all parents of a newborn.

Always collect a newborn screening before any transfusion even if the infant is <24 hours old. Collect a repeat filter paper 4 days past transfusion.  If the hospital is transferring a newborn to another facility they must collect a newborn screen prior to transfer.

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Important Points:

  • Parent Refusing Screen: If a parent refuses the newborn screening test, send in a newborn screening collection form completely filled in and write “REFUSED” on the form and document in patient chart. Fill out the Newborn Screening Refusal (PH-3686). This form should be retained in the medical record for the period of time defined by the hospital or provider per policy.
  • Infant has Died: If you are aware of an infant that has died, please fax the following information to the Newborn Screening Follow up program at (615) 532-8555:
    • the child’s name
    • date of birth
    • mother’s name
    • date the infant expired

This is important! In the event a specimen needs to be repeated, the newborn screening program will continue to send letters to the mother until the specimen is received. In this case, the program does NOT want to notify the parent and inflict further heartache.

  • Filter Cards: Contact your local health department to request the Newborn screening filter cards or fax the Lab Requisition Form to the State Laboratory.
  • Collection Procedure:  Visit the Tennessee State Laboratory Website and view the Newborn Screening Directory that provides Collection Procedure and Shipping Information.  Also the Newborn Screening Video is available which includes information about the Newborn Screening Program and collection method.
  • View reasons the Newborn Screening Laboratory deems a specimen unsatisfactory: Common Causes of Unsatisfactory Specimens.
  • Infant > 6 months of age and collecting a specimen: The test methods used by the Newborn Screening Laboratory are not suitable for infants greater than 6 months of age. If the infant is greater than 6 months of age, contact the Metabolic Center closest to the provider to inquire which tests need to be performed and where to send the specimens.
  • For results on infants born out of state:  The National Newborn Screening Genetics Resource Center website has a list of all Newborn Screening Follow Up contact numbers.

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Reports and Publications

Educational Material:
Newborn Screening Pamphlet Request Form

Parent Pamphlets:

  • English Version
  • Versiónes de Español (Spanish Version)

Provider Pamphlet:

Critical Congenital Heart Disease (CCHD) Screening Materials:

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A Self-Instructional CD-ROM for Practitioners:

This video course, "Let's Do it Right the First Time" for practitioners presents information about the disorders, techniques needed to properly collect blood specimens that are acceptable for the laboratory screening process and newborn screening information. For ordering information, email anakay.yaghoubian@aphl.org or call 240-485-2708 (9:00-5:00 Eastern).

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Newsletters:

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Hospital Reports:

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Additional Resources

  • March of Dimes - General information on pregnancy, birth defects, prematurity, newborn screening, and select genetic conditions.
  • Genetic Alliance - Provides disease specific information, support groups resources along with discussion of current ethical, legal, and social issues
  • American Academy of Pediatrics - Provides information on newborn screening disorders, including detection, evaluation and treatment.
  • National Newborn Screening and Genetic Resources Center - Provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers, and government officials.
  • American College of Medical Genetics  - The ACMG provides education, resources and a voice for the medical genetics profession. To make genetic services available to and improve the health of the public, the ACMG promotes the development and implementation of methods to diagnose, treat and prevent genetic disease.
  • Rules and Regulations for the Tennessee Department of Health Newborn Screening Program

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For More Information

Newborn Screening Follow up Program
Phone: (615) 532-8462 or Toll Free: (855) 202-1357  
Fax: (615) 532-8555

Genetic/Metabolic Centers

  • University of Tennessee
    1930 Alcoa Highway
    Medical Building A, Suite 435
    Knoxville, TN 37920
    (865) 544-9030
    (800) 325-3894 (Toll Free)
  • Vanderbilt University Medical Center
    Division of Medical Genetics
    DD-2205 Medical Center North
    Nashville, Tennessee 37232-2578
    (615) 322-7601

Satellite Genetic Centers

  • East Tennessee State University
    Medical Genetics Center
    325 N. State of Franklin
    Johnson City, TN 37604
    (423) 439-8541

Hematology Centers

  • St. Jude Children's Research Hospital
    Comprehensive Sickle Cell Center
    Department of Hematology
    332 N. Lauderdale - MS 800
    Memphis, TN 38105
    (901) 595-5670
    (866) 269-6536 (Toll Free)
  • T.C. Thompson Children’s Hospital
    Pediatric Hematology
    910 Blackford Street
    Chattanooga, TN 37403
    (423) 778-7289
  • University of Tennessee
    1930 Alcoa Highway
    Medical Building A, Suite 435
    Knoxville, TN 37920
    (865) 544-9030
    (800) 325-3894 (Toll Free)

Pediatric Endocrinologists

  • East Tennessee Children's Hospital
    Pediatric Endocrinology
    2100 West Clinch Avenue, Suite 140
    Knoxville, TN 37916
    (865) 971-7400
  • East Tennessee State University
    Pediatric Endocrinology
    325 N. State of Franklin
    Johnson City, TN 37604
    (423) 439-7320
  • Endocrine Clinic, P.C.
    5659 South Rex Road
    Memphis, TN 38119
    (901) 763-3636
  • Jackson Pediatric Center, Endocrinology
    37 Sandstone Circle
    Jackson, TN 38305
    (731) 664-9928
  • U. T. Medical Group, Inc.
    Division of Pediatric Endocrinology
    777 Washington Avenue, Suite P110
    Memphis, TN 38105
    (901) 287-5096
  • Monroe Carell Jr. Children's Hospital at Vanderbilt
    11136 Doctors Office Tower
    2200 Children's Way
    Nashville, TN 37232-9170
    (615) 322-7427  

Cystic Fibrosis Centers

  • Vanderbilt University Medical Center
    Division of Pediatric Pulmonary, Allergy, and Immunology
    2200 Children's Way
    11215 Doctors' Office Tower
    Nashville, TN 37232-9500
    (615) 343-7617

Pediatric Cardiology Centers

  • Pediatric Cardiology, PC
      805 Estate Place #1
    Memphis, TN  38120
    (901) 287-4150
  • Dr. Dane Douglas 
    6401 Poplar Avenue #402
    Memphis, TN  38119
    (901) 682-7774
  • Children’s Hearts
    1919 Charlotte Ave Suite 230
    Nashville, TN 37203
    (615) 321-8549
  • Pediatric Cardiology, Winchester Pediatrics
    155 Hospital Road Suite E
    Winchester, TN 37398
    (931) 962-0672

For direct MCH Contact:

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Updated September 2013