Newborn Screening for SMA in Texas

All newborns in Texas are tested through a dried blood spot collected as part of the Texas Newborn Screening panel for a common change in the SMN1 gene. If a change in that gene is found, another test is performed to identify the number of copies of the SMN2 gene. About 95 percent of babies with SMA will be identified by newborn screening.

Newborn screening is not considered diagnostic. Results that are out of range indicate the need for additional testing and evaluation to determine whether the baby is affected by SMA and the expected severity of the disease.

Newborn screening for SMA is vital because early diagnosis and SMA treatment provide better health outcomes for newborns and infants. Newborn screening allows an infant to begin treatment before symptoms appear, when research suggests it is most effective.

SMA screening by the numbers

SMA is a leading genetic cause of infant mortality (FDA, 2019). According to the committee that recommended universal SMA screening, screening all U.S. newborns could:

Identify about 365 babies with SMA, an average of one baby a day.
Prevent about 50 babies per year from needing a ventilator.
Prevent about 30 deaths per year from the most severe type of SMA.

Source: U.S. Health Resources & Services Administration Advisory Committee on Heritable Disorders in Newborns and Children, 2018

SMA can be detected through blood spot screening. A small amount of blood is collected from the newborn’s heel, placed on the blood spot card, dried and shipped to the Texas Department of State Health Services (DSHS) Laboratory for testing. Results are reported to the baby’s primary care provider, with results providing details about any out-of-range findings.

Newborn blood spot screening is performed twice: first at 24 to 48 hours after birth, usually in the birth facility, and then at 7 to 14 days of age. The second screening, which increases the chances of identifying conditions that may not be evident on the first screen, is performed in the primary care provider’s office as part of a newborn’s first Texas Health Steps preventive medical checkup.

Collection Tips

Newborns who do not receive blood spot screening in the birth facility, or whose screening results cannot be documented, should be screened in the primary care provider’s office. This may include babies who are born at home or outside the United States. (If a baby leaves a birth facility before 24 hours of age, the blood specimen should be collected before discharge.) Screening can be performed at any time through 11 months of age. Heel stick collection is appropriate for infants 11 months and younger who weigh less than 18 pounds and do not walk. For infants weighing 18 pounds or more and/or who are walking, blood specimens should be collected with a finger stick or venipuncture.

While newborn screening is most effective when performed in the newborn period, dried blood spot samples can be received by the DSHS Laboratory and analyzed through 11 months of age. If a child was adopted internationally, a blood spot should be obtained at the earliest possible time, regardless of the child’s age.

On-the-spot training

Primary care providers should ensure that newborn blood specimens are collected by medical staff who are trained to collect and submit blood spot specimens that meet DSHS Laboratory requirements. Consult the References for links to videos about the state’s blood specimen collection and submission requirements.

Newborn Screening Results

The DSHS Laboratory typically reports test results 3 to 4 business days after receipt of the blood sample. Results are mailed or faxed to the submitting provider of the blood spot specimen or available electronically to providers enrolled in the Texas Newborn Screening Web Application. Submitting providers can also receive results in one of the following ways.

Online through the Newborn Screening Web Application, a feature of the Remote Data Systems.
By sending a fax request to DSHS Laboratory Reporting at 512-776-7533, Monday through Friday, 8 a.m. to 5 p.m. Central Time.
By calling DSHS Laboratory Reporting at 512-776-7578 or toll-free at 888-963-7111, ext. 7578, Monday through Friday, 8 a.m. to 5 p.m. Central Time.

Authorized online users of the Newborn Screening Web Application can access newborn screening result reports at any time. Users can access any newborn screening results reported by the DSHS Laboratory since February 8, 2007, including results for specimens submitted by other facilities.

The confidential laboratory report provides results for all newborn screening tests, including normal and out-of-range results. Out-of-range (also known as abnormal) screening results are not diagnostic but do indicate the need for additional testing and evaluation. For out-of-range results, the laboratory report will show a chart with Screening Results like the sample shown below.

Disorder	Screening Result	Analyte	Analyte Result
Amino Acid Disorders	Abnormal: See Note 1	Methionine	Elevated
Fatty Acid Disorders	Normal
Organic Acid Disorders	Normal
Galactosemia	Normal
Biotinidase Deficiency	Normal
Hypothyroidism	Normal
CAH	Normal
Hemoglobinopathies	Abnormal: See Note 2	Hemoglobin	A, C
Cystic Fibrosis	Abnormal: See Note 3	Immunoreactive Trypsinogen CFTR 40 Mutation Panel	Elevated 1 Mutation Detected
SCID	Normal
Screening Result Notes: Possible Homocystinuria or Hypermethioninemia. Recommend quantitative plasma amino acids and plasma total homocysteine within 24 hours and telephone consultation with a pediatric metabolic specialist. Probable C Trait. Notify family of test results. One mutation, D1152H (c.3454G>C), in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene was identified. Cystic Fibrosis cannot be ruled out due to a possibility of a second mutation that is not included in the 40-mutation panel. Recommend referral for confirmatory sweat testing and consider genetic counseling within 7 days.

Response to Out-of-Range Results

DSHS’s Newborn Screening Clinical Care Coordination Program provides follow-up and clinical care coordination to help link families with the appropriate care providers if their baby’s screening results are out of range. If the laboratory report shows levels that are out of range, the newborn screening staff tracks the newborn to ensure additional screening and diagnostic tests are conducted.

The staff:

Contacts the newborn’s health-care provider and provides results and guidance for recommended action. If immediate evaluation is needed, the staff can provide a list of pediatric neurologists, geneticists and neuromuscular specialists in the area.
Requests repeat screens and/or confirmatory testing.
Mails a notification letter and newborn screening brochures to parents.

Can parents opt out of newborn screening?

Texas law mandates newborn screening.
The only legal reason for a parent, caregiver or legal guardian to refuse newborn screening is if screening conflicts with their religious tenets or practices. Parents are required to sign a form stating they refuse the newborn screening blood test. Download the Form to Refuse the Newborn Screening Blood Test provided by DSHS.
Health-care providers are encouraged to use motivational interviewing techniques to listen to parents’ concerns, provide information about the limited risks of testing and possible implications of not testing, and help parents resolve their ambivalence.
If parents, caregivers or legal guardians continue to decline newborn screening based on religious tenets or practices, health-care providers should give one copy of the signed refusal form to the family and retain a copy in the newborn’s medical records.

The Provider’s Role: Counseling Parents and Preparing for Next Steps

Receiving an out-of-range result for SMA may seem overwhelming to the parents of a newborn. As a primary care provider, you can help parents understand the results and prepare for additional testing and evaluation.

If possible, discuss the role of newborn screening prior to birth, and assure parents you will be available if the results are out of range. Newborn screening should be discussed orally with parents, with written material also provided. Give parents time to ask questions and discuss their concerns. Consider sharing free parent resources provided by DSHS, including 10 Things Parents Want to Know about Newborn Screening and the More than Drops on a Card video (5 minutes long).
Review DSHS’s SMA brochure and the SMA ACTion plan (ACT sheet) for health-care providers and its companion informational FACT brochure for families before meeting with the family about out-of-range screening results that indicate the potential presence of SMA.
An out-of-range screening result for SMA is not diagnostic. Confirmatory testing should be performed to determine whether a newborn has SMA and to assess the predicted severity.

Main Menu