Newborn Screening Program Frequently Asked Questions

What is the newborn screening program?

The Texas Department of State Health Services (DSHS) Newborn Screening Program consists of testing, follow-up and clinical care coordination. All babies born in Texas are required to have two rounds of screening tests for certain inheritable and other disorders. The Newborn Screening Program identifies those infants who have an abnormal screen at birth or shortly after birth. An abnormal laboratory result triggers follow-up and clinical care coordination to ensure that the baby receives confirmatory testing and treatment, if needed. Early treatment can prevent serious complications such as growth problems, developmental delays, deafness or blindness, intellectual disability, seizures or even early death.

What is the history of newborn screening in Texas?

The screening of large numbers of newborns in Texas was made possible and economically feasible with the discovery of the filter paper method for analyzing blood spots, coupled with the introduction of automated laboratory equipment. Texas added screening for these genetic and heritable disorders in:

1963 – Phenylketonuria (PKU)
1978 – Galactosemia (GALT)
1980 – Congenital Hypothyroidism (CH)
1983 – Hemoglobinopathies (Hb)
1989 – Congenital Adrenal Hyperplasia (CAH)
1999 – Newborn hearing screening implemented (point-of-service screen)

In 2006, with the development of Tandem Mass Spectrometry (MS/MS), DSHS began testing for a panel of metabolic disorders recommended by the American Academy of Medical Genetics. Following the addition of MS/MS, these additional disorders were added in:

2007 – Biotinodase (BIOT)
2009 – Cystic Fibrosis (CF)
2012 – Severe Combined Immune Deficiency Syndrome (SCID)
2014 – Critical Congenital Heart Disease (CCHD) implemented (point-of-service screen)
2015 – Secondary Conditions of the Recommended Uniform Screening Panel 

How are newborns tested?

A tiny amount of blood is taken from the baby’s heel 24 to 48 hours after birth or before leaving the hospital. A second sample is taken one to two weeks later, usually at the baby's first check-up. The sample is put on a piece of absorbent paper, dried and sent to the DSHS laboratory in Austin for screening tests.

What conditions does the newborn screening program cover?

  • Amino acid disorders: argininosuccinic acidemia (ASA), citrullinemia (CIT), homocystinuria (HCY), maple syrup urine disease (MSUD), phenylketonuria (PKU) and tyrosinemia type I (TYR-I)
  • Endocrine disorders: congenital adrenal hyperplasia (CAH) and congenital hypothyroidism (CH)
  • Fatty acid oxidation disorders: medium chain acyl-coenzyme A dehydrogenase deficiency (MCAD), carnitine uptake defect (CUD), long-chain L-3- hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD), trifunctional protein deficiency (TFP) and very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCAD)
  • Hemoglobinopathies: sickle cell anemia (Hb S/S), sickle beta thalassemia (Hb S/A), and sickle-hemoglobin C disease (Hb S/C)
  • Organic acid disorders: 3-methylcrotonyl-coenzyme A carboxylase deficiency (3-MCC), beta-ketothiolase deficiency (BKT), glutaric acidemia type I (GA-I), 3-hydroxy 3-methylglutaric aciduria (HMG), isovaleric acidemia (IVA), methylmalonic acidemia (Cbl A, B form), methylmalonic acidemia (MUT), multiple carboxylase deficiency (MCD) and propionic acidemia (PROP)
  • Other disorders: biotinidase deficiency (BIOT) and galactosemia (GALT)

Why are two screens required in Texas?

Standard practice is to take the first sample early, during the hospital stay, to detect disorders at the earliest possible chance. In some cases, the first sample may not identify all abnormal screens and a disorder may be detected only on the second screen.

Why is newborn screening important?

Most children born with these disorders are from healthy families and appear healthy at birth. Parents who have already had healthy children do not expect any problems with birth defects. Because every baby is tested soon after birth, any child who may have a disorder is identified early and can get immediate care.

Who does the screening?

The healthcare provider takes the blood sample. The DSHS public health laboratory in Austin does the screening tests.

What happens if a disorder is found during screening?

If screening tests are abnormal for any disorder, DSHS clinical care coordination (CCC) follow-up staff contacts the healthcare provider to quickly relay the abnormal results. CCC staff members then work with the healthcare provider and parents to ensure the infants get recommended follow-up screens or confirmatory testing.

What are the statistics for screening in Texas?

Estimated 2007 statistics indicate there were approximately 400,000 births in Texas. The DSHS public health laboratory received approximately 800,000 specimens collected and CCC staff provided follow-up on approximately 15,000 abnormal screens. There were approximately 600 diagnosed core disorders and more than 300 cases of variant or other disorders.

Can infants with any of these disorders be cured?

There is no cure for these conditions. Early treatment may prevent or control the serious effects.

Can parents opt out of having their newborn screened?

Yes. A parent can refuse the screen for religious reasons only.

Is the only reason a parent can refuse for religious reasons?

The statute’s only reference to allowing the parent, guardian or managing conservator the right to object to screening is if it conflicts with their religious tenets or practices.

Who pays for the screening?

The healthcare provider or facility sending the specimen to the laboratory buys the specimen collection kit for private pay patients. How these patients are billed is determined by the commercial insurance carrier. DSHS provides specimen collection kits at no cost to those covered by Medicaid and Title V. DSHS is reimbursed by Medicaid and Title V.

What is Title V?

Title V is a federal funding source. The Maternal and Child Health Bureau provides states with block grant funding for the purposes of population-based public health initiatives. Title V also provides for direct care services to women and children.

Last updated September 24, 2015