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    PO Box 149347 Austin, TX 78714-9347
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    Austin, TX 78756-3199

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Newborn Screening - Frequently Asked Questions

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General Information on Newborn Screening
Question: What is the newborn screening program?
Answer: The Texas Department of State Health Services (DSHS) Newborn Screening Program consists of laboratory testing and clinical care coordination for infants with out of range results. All babies born in Texas are required to have two screening tests for certain heritable and other disorders. An out of range laboratory result requires 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, mental retardation, seizures, or even early death. .
   
Question: Why is newborn screening important?
Answer: Most children born with these problems are from healthy families and appear healthy at birth. Parents who already have healthy children, or who are "silent carriers" of a genetic condition, do not expect any problems. Because every baby is tested soon after birth, children who may have one of these disorders can be identified early and get early care.
   
Question: How are newborns tested?
Answer: A tiny amount of blood is taken from the baby's heel, between 24 hours to 48 hours, after birth or before leaving the hospital. A second blood sample is taken from one to two weeks later. The blood sample is put on a piece of absorbent paper, dried and sent to the DSHS Laboratory in Austin for special screening tests.
   
Question: What conditions does the newly expanded screening program cover?
Answer:

Newborns are now screened for the following 28 disorders.

  • 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: cystic fibrosis (CF), galactosemia (GALT) and biotinidase deficiency  

Quick Reference to Newborn Screening Disorders

   
Question: Why are two screens required in Texas?
Answer: It is standard practice to collect the first sample early, during the hospital stay, to detect some of the disorders at the earliest possible opportunity. However, in some cases, the first sample can be collected too early and a disorder may only be detected on the second screen. Studies indicate that 11 to 12 percent of hypothyroidism cases are detected on the second screen. The Department of State Health Services has acted on this information and opted to provide a model program for the detection of these disorders.
   
Question: Who does the screening?
Answer: The health care provider collects the blood sample. The DSHS public health laboratory in Austin does the laboratory testing.
   
Question: What happens if the test is out-of-range?
Answer: Parents are contacted by their child’s healthcare provider. Follow directions for your child’s immediate care and additional testing.
   
Question: Can infants with any of these disorders be cured?
Answer: There is no cure for these conditions. Early and continuous treatment can help prevent or control the serious effects of these disorders.
   
Question: Who pays for the screening?
Answer: Health care providers or facilities buy the specimen collection kit for private pay or insurance covered patients. DSHS provides specimen collection kits at no cost for patients covered by Medicaid, CHIP, and Title V. DSHS is reimbursed by Medicaid, CHIP, and Title V.
   
Question: Can parents opt out of having their newborn screened?
Answer:

Newborn screening is a simple blood test to look for 28 diseases that can cause a baby to get really sick or die if they are not identified and treated early. The diseases can cause growth problems, mental or physical delays, deafness, blindness, seizures, and early death. Most babies with these conditions look perfectly normal when they are born, and problems may not appear for several weeks or months. About 1 child out of every 500 screened has a newborn screening condition that can be treated.

Parents can only refuse to have their child screened if the screening conflicts with a parent’s religious tenets or practices (see Texas Health & Safety Code Sec. 33.012). In order to refuse, you must complete and sign a form stating your religious objection to newborn screening. Ask your healthcare provider for the appropriate DSHS form.

Points to consider before refusing newborn screening:

  • There are important medical benefits of newborn screening.
  • Symptoms of a newborn screening disorder can appear much later, after a child’s health has already been injured by the disease.
  • The screen is mandated by law.
  • The only legal reason to refuse newborn screening is if it conflicts with your religious tenets or practices.

If parents have concerns, they should talk to birthing center staff or their baby’s physician. They can can also feel free to contact the NBS Program Staff at (888) 963-7111, ext. 7333 or visit the website: http://www.dshs.state.tx.us/lab/newbornscreening.shtm
   
Question: Do newborns receive a hearing screening?
Answer: All newborns born in a Texas hospital or birthing center must either be offered a hearing screen or referred to a facility that offers one. About 98 percent of all newborns are screened for hearing. When the law was enacted in 1999, some birth facilities in sparsely populated areas of the state were given an exemption from the law. Families who have home births or births in an exempt birth facility should ask for a referral to a local outpatient hearing screen provider. See the next question for a list of potential outpatient hearing screen providers.
   
Question: What can parents do to get a hearing screen for their newborn?
Answer:

If parents did not receive a hearing screen for their infant, an outpatient hearing screening needs to be scheduled. Parents can contact their local pediatric audiologist’s office for an appointment. Click here to find a list of pediatric audiology offices throughout Texas.

If there is not a pediatric audiologist in the area, the local birthing hospital will often offer hearing screening services for babies in the community who were not born at that hospital.  In addition, a limited number of primary care physicians also offer outpatient hearing screening services.

If parents do not receive the results of the screen, they should contact the facility that provided the screen. In addition to the facility providing the screen, hearing screen results are sent to the primary care physician on file, as well as to the state health department.

The Texas Early Hearing Detection and Intervention (TEHDI) program is available to help locate facilities, find test results or answer any questions, call 1-800-252-8023, ext. 7726 or 2128.
   
Question: How many infants are affected by hearing problems?
Answer: In Texas, two to three infants a day are born with a hearing loss. Hearing loss and deafness are more prevalent than all other conditions screened at birth combined. Unidentified infant hearing loss affects language, learning, and brain development. Intervention within six months after birth minimizes developmental delays. For more information about infant hearing loss visit https://www.dshs.state.tx.us/audio/nbhsparent.shtm.
 
 
Cystic Fibrosis (for Parents)
Question: What is cystic fibrosis?
Answer: Cystic fibrosis (CF) is an inherited disease that causes thick, sticky mucus to build up in the lungs, digestive system and other organs. This mucus can trap germs that can cause lung infections.
   
Question: When did screening for cystic fibrosis (CF) begin?
Answer: Screening began on December 1, 2009.
   
Question: What causes cystic fibrosis?
Answer: CF is an inherited disorder resulting from a baby receiving a defective gene from both parents.
   
Question: Why does Texas screen for cystic fibrosis?
Answer:

For infants born in Texas with cystic fibrosis, screening can  lead to a confirmed diagnosis that will allow for earlier medical guidance that can improve the infant's growth and mental development, reduce hospitalizations, and lengthen life expectancy.

   
Question: How common is cystic fibrosis?
Answer: Approximately 1,000 new cases of cystic fibrosis are diagnosed each year in the United States. (source: CF Foundation).
   
Question: What are the symptoms of cystic fibrosis?
Answer: Although the severity of symptoms varies, the most common symptoms are failure to gain weight normally (even when appetite is good), persistent cough, recurrent lung infections, wheezing, frequent greasy stools or difficult bowel movements, dehydration, and salt imbalances.
   
Question: What is a sweat test?
Answer: It is a test that measures the amount of chloride in sweat. A small amount of a chemical and an electrode are applied to a small area of skin which will cause the skin to sweat. The sweat is collected and the amount of chloride is measured.
   
Question: Where can sweat tests be done?
Answer: For confirmatory testing, it is recommended that the sweat test be done at a Cystic Fibrosis Accredited Care Center. DSHS Case Management will provide a list of the accredited facilities to Primary Care Physicians and family members for confirmatory testing.
   
Question: Is cystic fibrosis treatable?
Answer: Yes, with specific medications, therapies, and good nutritional support.
   
Question: What is the treatment for cystic fibrosis?
Answer: Treatments for CF patients vary depending on the severity of the disease. Treatments can include vitamin supplements, high calorie diets, pancreatic enzymes, airway clearance treatments, anti-inflammatory medicines, and bronchodilators.
   
Question: Where can I find more information about Cystic Fibrosis?
Answer: You can visit the Cystic Fibrosis Foundation?s website at www.cff.org or call them toll free at 1-800-344-4823 for more information.
 
 
Cystic Fibrosis (for Healthcare Providers)
Question: When did screening for cystic fibrosis (CF) begin?
Answer: Screening began on December 1, 2009.
   
Question: Will additional blood need to be collected to add cystic fibrosis to the newborn screening test?
Answer: No, the CF screen can be done from the same five blood spots that are currently collected for newborn screening.
   
Question: Did the cost of the newborn screen change? If so, by how much?
Answer: Yes. The fee increased from $29.50 to $34.50 with the addition of cystic fibrosis to the newborn screening panel and other Newborn Screening Program changes.
   
Question: What test is the state laboratory using for screening cystic fibrosis?
Answer:

The IRT/IRT/DNA model is being used. An immunoreactive trypsinogen (IRT) level is measured on each specimen. For first screens with elevated IRT levels a second screen is required to complete testing. For second screens with elevated IRT levels, DNA testing is performed using the same specimen to determine the presence of CF causing DNA mutations. This model relies upon screening results from both the first and second screens before a conclusive CF screen result is obtained.

   
Question: What are the IRT levels?
Answer: Immunoreactive trypsinogen (IRT) is a protein in blood, which may be a sign of CF. Babies with elevated or high levels of IRT will need a DNA study, sweat testing, and evaluation by a pulmonary doctor to confirm CF diagnosis.
   
Question: What mutation panel is the state using for cystic fibrosis?
Answer:

The Department of State Health Services (DSHS) is using a 40 mutation panel, including the 23 mutations that are recommended by the American College of Medical Genetics.

CFTR InPlex 40 Mutation Panel
nbsMutationChart

The panel also includes 2 polymorphisms, F508C and IVS8-5T/7T/9T
   
Question: What does an ?indeterminate? screen value mean on the newborn screening mailer?
Answer: The State of Texas requires two separate specimens be collected from each baby for newborn screening. First screen specimens should be collected after 24 hours and before 48 hours of age, and the second screen specimens should be collected at one to two weeks of age. The IRT/IRT/DNA screening model used in Texas will identify babies with a persistent elevation of IRT. If the IRT level is elevated on the first screen, the NBS result report will list the CF result as “indeterminate”, pending results from the second newborn screen. Therefore, please ensure that the second screen is promptly collected for any baby with an “indeterminate” result on the first screen.
   
Question: What does an ?inconclusive? screen value mean on the newborn result report?
Answer: With the IRT/IRT/DNA model used in Texas, newborn screens are sent for CF DNA testing when the second screen has an elevated IRT result or if the first screen is elevated and a second screen is not obtained. If none of the 40 mutations is detected by the DNA testing, the newborn screening result report will list the CF result as ?inconclusive.? Although the mutation panel tests for the 40 most common Cystic Fibrosis Transmembrane Reductase (CFTR) gene mutations, there are more than 1600 known mutations in this gene. Therefore, even with the absence of these 40 mutations, there is still a minimal risk for CF. No further testing is recommended unless the child shows clinical symptoms of cystic fibrosis.
   
Question: What is the treatment for cystic fibrosis?
Answer: Treatments for CF patients vary depending on the severity of the disease. Treatments can include vitamin supplements, high calorie diets, pancreatic enzymes, airway clearance treatments, anti-inflammatory medicines, and bronchodilators.
 
 
Regarding the 2009 Legislative Requirements for Providers Concerning Newborn Screening
Question: Our facility only performs second screens, usually when the baby is around 2 weeks old. Are we required to provide the form ?Use and Storage of Newborn Screening Bloodspot Cards? (Disclosure/Destruction Directive Form #F14-13230) to the parents?
Answer: Yes. The form must be provided to parents, legal guardians, or managing conservators for each newborn screening specimen drawn.
   
Question: Are healthcare providers required to ensure that parents complete and sign the Disclosure/Destruction Directive Form?
Answer: No. Healthcare providers are ONLY required to provide the information by giving the form to the parent, legal guardian, or managing conservator. The provider would then indicate on the demographic portion of the collection kit that the form has been provided. After reviewing the Disclosure/Destruction Directive Form, the parent, legal guardian, or managing conservator should ONLY complete the form and send it to DSHS if they wish to have their child?s specimen(s) destroyed.
   
Question: Does the Disclosure/Destruction Directive Form allow the parent, legal guardian, or managing conservator to choose to NOT have their child receive the newborn screen test?
Answer: No. Two newborn screening specimens are legally required for all newborns. The only reason a parent, legal guardian, or managing conservator may refuse to have the newborn screen test performed is because it conflicts with their religious beliefs stemming from an established religion, and the Disclosure/Destruction Directive form has nothing to do with declining newborn screening for that reason.
   
Question: Do we have to wait until we get the physician verification labels to continue screening?
Answer: No. Collection of the newborn screening specimen should not be delayed. Please begin providing the information and form to the parent as soon as you have the required materials. Begin indicating that you have provided this material when you receive your new stock of cards with labels already attached, or the separate labels to affix to your in-stock newborn screening collection kits.
   
Question: How do we request physician verification labels for newborn screening collection kits?
Answer: To request additional labels for collection kits already in stock, please . Please include: (1) the quantity of labels requested, (2) the newborn screening submitter ID number, and (3) the ship to address.
   
Question: If the parent, legal guardian, or managing conservator wishes to have their child?s specimen destroyed and they complete and sign the form at the time of specimen collection, may the form be returned to DSHS with the specimen?
Answer: Yes
   
Question: If the parent, legal guardian, or managing conservator takes the information with them, how can they return the form to DSHS if they decide to request the newborn screening specimen be destroyed?
Answer: The parent, legal guardian, or managing conservator can mail the completed form to the DSHS address listed on the form at any time.
   
Question: Are healthcare providers required to maintain documentation that the Disclosure/Destruction Directive Form has been provided?
Answer: Healthcare providers are currently only required to indicate on the newborn screening specimen demographic form that the Disclosure/Destruction Directive Form has been provided to the parent, legal guardian, or managing conservator. House Bill 1672, from the 2009 regular session of the Texas Legislature, requires DSHS to establish a procedure for providers to verify that the form has been provided as required. The check-box on the label, discussed above, is the method DSHS has chosen to fulfill that requirement. The new law does not speak to recordkeeping, by the provider or DSHS, regarding the giving of the forms to parents/legal guardians/managing conservators by providers or other persons attending the birth.
   
Question: If the physician verification label is not on the form, will the specimen be rejected or will it delay the testing?
Answer: No. All specimens will be processed regardless of whether the label has been applied or not.
   
   
Specimen Collection and Billing (for Heathcare Providers)
Question: Will the DSHS expanded screen duplicate the testing on the expanded screen being offered at commercial laboratories?
Answer: The DSHS panel includes all of the core disorders recommended by the American College of Medical Genetics (ACMG). Other laboratories may screen for a few additional secondary disorders detectable by tandem mass spectrometry. Quick Reference to Newborn Screening Disorders
   
Question: When does the screening have to be performed?
Answer: DSHS rules implementing state law mandate two screens. The first screen is requiredafter 24 hours but before 48 hours of age, or prior to the newborn's discharge from the hospital. The second screen is required at one to two weeks of age.
   
Question: Why two screens? Some states require only one.
Answer: It is standard practice to take the first sample early, during the hospital stay, to detect some of the disorders at the earliest possible opportunity. However, in some cases, the first sample can be taken too early and a disorder may only be detected on the second screen. Studies indicate that 11 to 12 percent of hypothyroidism cases are detected on the second screen. The Board of Health has acted on this information and opted to provide a model program for the detection of these disorders.
   
Question: What is a screening test kit?
Answer:

The newborn screening test kit includes a specimen collection device, a form for demographic information, and a special envelope.

   
Question: Will DSHS pay postage?
Answer: DSHS has never paid postage for the newborn screening test kits and does not contemplate doing so in the future.
   
Question: Does one kit cover two screens per child?
Answer: No, one kit per screen is required. Each child will require two screening test kits.
   
Question: How do I order the screening kits?
Answer:

You need to call (512-458-7661) or fax (512-458-7672) the laboratory to request an order form for newborn screening kits and supplies. You must also specify the total number of kits needed by the two categories below:

  1. Medicaid/CHIP/charity care
  2. Non-Medicaid/non-CHIP/non-charity care

The laboratory will send you the kits and supplies which you will use to collect the samples and submit to the laboratory. A packing slip will be included with the shipment. An invoice will be sent later. Payment will be due 120 days from shipment date. There will not be a charge for kits for Medicaid-eligible, CHIP, or charity care newborns.

Envelopes and submitter labels are also provided at no charge. If you need mailing envelopes and/or labels with your submitter address, please indicate the quantity needed on the order form.

   
Question: Rules for the newborn screen tests require that specimens be mailed within 24 hours of collection; however, specimens collected late on Fridays do not dry in time to ship that day. Should we ship the specimen wet, or ask the mom to return early the next week to draw an acceptable specimen?
Answer: The intent of the DSHS rule regarding mailing newborn screening specimens within 24 hours of collection is to get the specimens to DSHS for testing as soon as possible. We realize that it will be impossible to send all specimens within 24 hours of collection, especially for those specimens drawn before weekends or mail holidays. Specimens should be dried thoroughly and then mailed to DSHS when postal service is available. The rules emphasize the importance of the timely collection and mailing of specimens so that children with these disorders can be identified, diagnosed and treated as quickly as possible; however, the first priority is to provide an acceptable specimen.
   
Question: What is the Newborn Screening Report Card, and what are the consequences of receiving poor evaluations?
Answer:

The newborn screening report card will provide submitters with facility specific and general program statistics including: the number of newborn screens submitted, transit times from specimen collection to receipt in the DSHS Laboratory, and the number of unsatisfactory specimens. Since each specimen card may have up to 3 unsatisfactory codes, a separate count is given with the total number of unsatisfactory codes. The report card will also provide general statistics from other submitters with similar birth totals, and statistics on all Texas submitters.

The report card is intended to be a useful assessment tool for each facility. It can be used as a monitoring tool to identify both successful and problem areas within the facility?s newborn screening procedures, such as specimen collection, demographic data entry, and processing. DSHS will use the data to identify sites that need assistance in order to provide educational tools or on-site training.

   
Question: How do you define charity care?
Answer: The charity care newborn is a patient who is not insured and is not covered or eligible to be covered for newborn screening services by Medicaid, CHIP, or any other government program.
   
Question: Who will be billed for newborn screening test kits?
Answer: DSHS will bill the person or facility that orders kits for non-Medicaid, non-CHIP, or non-charity care newborns.
   
Question: Wouldn't it be easier for DSHS to bill the patient?
Answer: DSHS considered billing patients, but found that administrative costs would more than double the cost of the service. Minimizing administrative costs by charging providers for screening kits represented the most cost-effective approach to recover funds.
   
Question: What codes do facilities use to submit reimbursement claims to insurance companies for the newborn screening panel?
Answer:

In 2007, the major insurance companies agreed to cover the newborn screen when the following two CPT codes were submitted: S3620 for the original disorders, and 83788 for the expanded MS/MS panel. DSHS does not control how insurance companies operate or the reimbursement rates that are set, therefore each individual facility?s billing office should work out individual agreements with each insurance carrier.. For additional information, see the Texas Medical Association (TMA).

   
Question: What additional CPT code(s) should be used to submit a claim for reimbursement of a newborn screen including cystic fibrosis?
Answer:

CPT codes S3620 and 83788 are used for the NBS panel, including cystic fibrosis. The CPT codes for each individual test in the newborn screening panel are listed in the table below. However, if all of these codes are used simultaneously to submit a claim to an insurance company the resulting reimbursement may be significantly higher than the current cost of performing the NBS. Effective January 1, 2010, the cost charged by DSHS for a newborn screen is $34.50.

CPT #*

CPT Description

 

83498

Hydroxyprogesterone,17-d 

83020

Hemoglobin fractionation and quantitation; electrophoresis 

82776

Galactose-1-phosphate uridyl transferase; quantitative: screen

84437

Thyroxine; total: requiring elution (e.g., neonatal) 

83788

Mass spectrometry and tandem mass spectrometry (MS, MS/MS), analyte not elsewhere specified; qualitative, each specimen 

82261

Biotinidase, each specimen 

83520

Immunoassay, analyte, quantitative (e.g. for CF screen)

* The codes listed above do not include the reflex testing that is performed on certain subsets of specimens determined to be “out of range” on the initial screen. The cost of the reflex testing is included in the basic $34.50 cost for the screen.

   
Question: What is the potential problem with submitting a reimbursement claim using all of the CPT codes?
Answer: Reimbursement at a rate significantly more than the actual cost could be considered fraud by the insurance company.
   
Question: How do we determine the best way to submit reimbursement claims for the newborn screen?
Answer: Have your facility?s business manager/office contact each insurance carrier with which you deal and work out the logistics, processes and rates. It may be possible to add this new agreed upon information to the facility?s agreement/contract with the insurance company.
   
Question: When will you bill for the screen?
Answer: Every time a provider orders screening test kits for non-Medicaid, non-CHIP, non-charity care patients, an invoice will be included with the shipment. Payment is due 120 days from shipment date.
   
Question: Who pays if the screening test kit is destroyed or rendered unusable?
Answer: If an accident occurs in the healthcare practitioner?s office that makes a kit unusable, the practitioner is responsible for paying for another kit.
   
Question: What if the screening test kit is no good?
Answer: Each screening test kit qualifies as a medical device. If a kit does not perform as it should, please notify Cathy Edmonson, Quality Assurance Officer, by , or call 512-458-7111, ext. 2055 (toll free 888-963-7111, ext. 2055). DSHS will replace defective kits free of charge.
   
Question: If DSHS requests a repeat newborn screen because the first results are equivocal or unsatisfactory, will a screening test kit be provided free of charge?
Answer: All screening kits for Medicaid-eligible, CHIP, and charity care newborns will be provided free of charge, no matter how many times the infant is tested. For others, you must purchase a kit each time the newborn is tested.
   
Question: May STAR plans use the Medicaid screening kits?
Answer: Yes. STAR plans are Medicaid managed care plans. Patients seen under these plans are eligible for Medicaid. You will not be charged for kits for Medicaid-eligible, CHIP, and charity care newborns.
   
Question: Can I use the mother's Medicaid number for the newborn?
Answer: Yes. The mother's Medicaid number may be used on the form to indicate that the newborn is Medicaid-eligible. DSHS recognizes that it may take months to issue a Medicaid number for the newborn.
   
   
Test Result Reports (for Heathcare Providers)

The addition of 21 new disorders to the DSHS newborn screening panel necessitated a change in the result reporting format. Some Frequently Asked Questions (FAQ?s) are listed below to assist you in reading the new format.

Note: You will be notified of any abnormal NBS result by telephone and FAX prior to receiving the mailed report. At that time, Newborn Screening Case Management nurses will provide specific instructions on necessary actions.


Question: Where are results for the original disorders (PKU, CAH, etc.)?
Answer: Disorders are now being listed by type of disorder instead of by individual names. PKU is within the group of Amino Acid Disorders, CAH and T4 are within the Endocrine Disorders, information on Hb F / Hb A are within the Hemoglobinopathies. Biotinidase Deficiency, Galactosemia, and Cystic Fibrosis are listed by name. Refer to the section at the bottom of the result report for a complete list of all disorders screened.
   
Question: Where will abnormal values be listed?
Answer: On the mailed report, additional columns will be displayed with information on the abnormal analytes and recommended actions. In addition, you will be contacted by telephone or FAX by the Newborn Screening Case Management staff if any of the newborn screening results are abnormal.
   
Question: Do I have to read all of the information at the bottom of the report?
Answer: The information at the bottom of the result report includes a statement about the applicability of the test results for older children, a list the 28 disorders in the DSHS newborn screening panel and information about the DNA mutation test for cystic fibrosis (only seen when the CF-DNA test is performed)..
   
Question: What are analytes?
Answer:

An analyte is the specific enzyme, chemical, or molecule that is tested for and measured to determine if a child has a NBS disorder. Many of the analytes are listed by name. For example, phenylalanine is the analyte measured which indicates PKU, thyroxine (T4) is the analyte measured which indicates hypothyroidism, and immunoreactive trypsinogen (IRT) is the analyte measured which indicates cystic fibrosis. However, Fatty Acid and Organic Acid disorder analytes are listed by abbreviations of the acylcarnitine markers or ratios that identify the disorder (i.e., C8, C6, C10:1, C10, C8/C2 are the analytes that are measured and may indicate the MCAD disorder).

   
Question: Are we responsible for ordering the plasma acylcarnitine profile, urine acylglycine, and urine organic acid tests, or will the specialist order them? If we have to order the tests, what laboratory do you suggest we use?
Answer: The suggested confirmatory tests are listed so that if you wish to order the tests before the specialist is consulted, you can do so. Some people prefer to consult with the specialist first and have the specialist order the tests. The laboratory used will depend on insurance requirements and local availability.
   
Question: Why do some abnormal results only require a repeat screen and others require multiple laboratory tests?
Answer: The requested or recommended actions are based on the levels of the abnormal analytes. The majority of abnormal analyte results only indicate the need for a repeat screen; however, some results are within a critical range and require immediate action to prevent or control serious health problems.
   
Question: What does an ?indeterminate? CF screen value mean on the newborn screen result report?
Answer: The State of Texas requires two separate specimens be collected from each baby for newborn screening. First screen specimens should be collected after 24 hours but before48 hours of age, and the 2nd screen specimens should be collected at one to two weeks of age. The IRT/IRT/DNA screening model used in Texas will identify babies with a persistent elevation of IRT. If the IRT level is elevated on the first screen, the NBS result report will list the CF result as ?indeterminate,? pending results from the second newborn screen. Therefore, please ensure that the second screen is promptly collected for any baby with an ?indeterminate? result on the first screen.
   
Question: What does an ?inconclusive? CF screen value mean on the newborn screen result report?
Answer: With the IRT/IRT/DNA model used in Texas, newborn screens are sent for CF DNA testing when the second screen has an elevated IRT result or if the first screen is elevated and a second screen is not obtained. If none of the 40 mutations is detected by the DNA testing, the newborn screening result report will list the CF result as ?inconclusive.? Although the mutation panel tests for the 40 most common Cystic Fibrosis Transmembrane Reductase (CFTR) gene mutations, there are more than 1600 known mutations in this gene. Therefore, even with the absence of these 40 mutations, there is still a minimal risk for CF. No further testing is recommended unless the child shows clinical symptoms of cystic fibrosis.
   
Question: When an abnormal result note states ?Possible metabolic disorder,? what does this mean?
Answer:

Sometimes, the screen results do not provide enough information to determine the exact disorder that may be indicated. Typically, the results do not indicate a critical situation so the action needed is to provide a repeat screen as soon as possible.

   
Question: Why does the ?Screening Result? indicate ?Abnormal? but some analytes are listed as ?Normal? in the ?Analyte Result? column?
Answer: Multiple analytes are used to determine a patient?s risk for some disorders. Not all the analytes have to be abnormal to indicate a problem.
   
Question: Why do the result notes indicate a possible MCAD and recommend a specialist for further tests, and also a General Elevations(s) with a request for a repeat newborn screen? Which directions am I supposed to follow?
Answer:

Depending upon the specific analytes that are elevated, multiple disorders may be indicated. Therefore multiple screening notes may be printed. NBS case management staff will contact you to provide guidance on necessary actions and follow-up.

   
Question: I received a two page abnormal result report but the second page was blank. Is there information missing?
Answer: No information is missing. If all of the information on the report (including the list of disorders that are screened for) cannot fit on the first page, a second report page is automatically generated to provide the information.
   
Question: What does it mean when some result notes mention General Elevation(s)?
Answer: General Elevation(s) refers to abnormal analyte(s) that are not recognized as a specific pattern associated with one of the screened disorders.
   
Question: What does it mean when the newborn screening report states, "Possible TPN - Please repeat the Newborn Screen," when TPN is discontinued?
Answer: Some newborns have gastrointestinal systems that are too immature to absorb nutrients safely, and therefore receive their initial nutrient (amino acids, sugars and lipids) through intravenous (IV) feeding, which is called total parenteral nutrition (TPN). TPN may interfere with the newborn screen by causing elevated results for many of the analytes masking a true disorder. This is a particular concern with the Amino Acid Disorders. Please do not collect the newborn screening sample directly off the TPN line. Please remember to note on the specimen collection card when a child is on TPN.
   
Question: The result for hemoglobinopathies states, ?DNA Report to follow.? Do I have to order additional testing?
Answer:

No. As part of the NBS program, DNA testing is automatically performed on specimens that test positive for specific hemoglobinopathies. Specimens that will have the DNA testing performed will have the ?Awaiting DNA studies? note on the NBS report. The DNA report will be mailed separately when the testing is completed.

   
Question: Are there any other changes associated with the program of which we need to be aware?
Answer:

NBS specimen collection cards have also been updated. The first page of the new card is a perforated information sheet that should be torn off and given to parents to take to the first well-child visit. In addition, there are new demographics fields including: time of birth and time of specimen collection; information about the physician that will follow the child after hospital discharge and the physician´s NPI number. There are also new legislative requirements for physicians or persons attending the birth of a newborn, HB 1672 (81st Session). Please see this link for details and resources: (Add link to page specifically for physicians)

Note: The new collection cards are slightly larger than previous years. If you order NBS shipping envelopes from DSHS, please request the larger size.

   
 
Accessing Result Reports Online / Entering Demographic Information Through the Web
Question: Do we still have to handwrite the demographic information onto the cards?
Answer: No. If you place a web label on the NBS card, you do not have to complete the form.
   
Question: Why does DSHS require a label or handwritten information if the information is being sent electronically?
Answer:

Two reasons:

  1. DSHS needs some means to verify that the information sent electronically correctly matches the form for which it was submitted.
  2. In the event that an electronic submission fails for any reason, the laboratory needs some means of manually entering demographics in order to test the specimen.
   
Question: What if I need to change something after the label has been printed?
Answer:

There are two options.

  1. Through the web system, you may re-access the submitted specimen using the Search option under the Enter NBS Demographics module. Choose to edit the demographics for the specimen in question. Make any necessary changes to the demographic information and submit the specimen again. You will then be prompted to print a label.
  2. On the label, using red ink, strike through the incorrect field and initial the change. DSHS data entry operators will then update the electronically transferred when the specimen is processed by the laboratory.
   
Question: How do I print more than one label?
Answer: If your printer is configured to initiate a print dialog at each print, there will be an option to choose the number of copies within that dialog. If you will always print multiple labels, the number of copies can be set in the printer preferences. Future releases of this system may have the capability to choose the number of labels from within the application.
   
Question: Can I print labels on a laser printer?
Answer: Although the system is configured to print to a label printer, there is a possible workaround if you prefer to print to Avery labels on a laser printer. A general outline for this workaround is located at: http://www.dshs.state.tx.us/lab/nbsProcedurePrintLabelWebApplication.pdf
   
Question: When will results be available?
Answer: Results will be available as soon as they are reported by DSHS. This usually occurs 1-3 days after the specimen demographics have been Merged into the system.
   
Question: How long will the results be available on the web?
Answer:

Results will be available indefinitely. Currently, users can access result reports for any specimens reported after mid-February of 2007.

   
Question: When we access results, do we pull them out one at a time or can we print a range of specimen results.
Answer:

Using the Remote Viewer, the user can search by any of the fields listed and print or view reports for all specimens meeting those criteria. For example, the user can enter the date of birth 07/15/2008. The system will return a listing of all specimens submitted by the facility with 07/15/2008 for a date of birth. The user can then click a checkbox next to each specimen they wish and select View All Reports to open all selected reports.

   
Question: Will the submitter continue to receive a hard copy report?
Answer:

Currently, yes. In the future, submitters will have the option to opt out of receiving hard copy reports.

   
Question: When trying to view a report, I am receiving the error "The file is damaged and could not be repaired" Why?
Answer:

To view result reports, the web application requires Adobe Reader 8.0 or higher. If you have an older version, this error will occur. A link to a free copy of Adobe Reader 8.0 is available on the Result Reports page.

   
Question:

Can I access reports on specimens that were not drawn by my facility?

Answer:

Yes. In the Access Result Reports module, uncheck Submitted Samples Only before performing a search. For additional security purposes, the user must use a combination of multiple search fields to access the result report. For a listing of possible search combinations, refer to page 14 of the web manual. http://www.dshs.state.tx.us/lab/nbsRemoteDataManual.pdf

   
Question:

Where can I get help and hints for accessing result reports?

Answer:

Click here to view general search tips. (PDF 22kb)

   
Question: Can the default printer setting be changed so that the labels print to the label printer, but still allow the workstation to keep printing to other networked printers?
Answer:

Yes. When opting to print to a laser printer instead of the default label printer, the user will need to either reset the laser as the default or choose the laser from the print dialog box generated by their application.

   
Question: Which label printers can be used with the system?
Answer:

The following is a list of just some of the label printers that have been tested with this system. Other similar printers will likely be configurable as well.

  • Zebra LP2824
  • Zebra TLP 3742
  • DYMO LabelWriter 400 Turbo
  • Brother P-touch QL-5000
  • SII Smart Label Printer
   
Question: How do I configure the printer and web browser?
Answer:

For complete instructions for configuring your printer and web browser, go to http://www.dshs.state.tx.us/lab/nbsProviderWebInstallation.pdf

   
Question: I am getting an ActiveX control error when I submit a specimen or try to print a label. How do I fix this?
Answer:

Since this is a secure site, the site must be added to a list of acceptable sites under security settings for your web browser. This may require setup assistance from the facilities IT department. The steps necessary to reconfigure this are also available in the document http://www.dshs.state.tx.us/lab/nbsProviderWebInstallation.pdf

   

Note: External links to other sites are intended to be informational and do not have the endorsement of the Texas Department of State Health Services. These sites may also not be accessible to people with disabilities.

Last updated January 13, 2012