Newborn Screening in Nebraska
Information for Physicians/Health Care Professionals

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Condition Specific Information

       ♥  Information for Healthcare Professionals on CCHD screening

Under Nebraska state law physicians hold the ultimate responsibility for ensuring newborn screening occurs for their patients. While the State program is there to ensure an effective system of newborn screening, the baby’s doctor/health care professional is the one who makes it happen.

The following links describe the newborn screening responsibilities of physicians.  We also strongly recommend accessing the Practitioner's Manual.

  1. Parent Education about Newborn Screening
  2. Ordering the Newborn Screen
  3. Obtaining Newborn Screening Results
  4. Communicating POSITIVE "Screening" Results to Parents
  5. Communicating POSITIVE CONFIRMATORY Results to Parents
  6. ACT Sheets - Next steps when receiving positive screening results and condition specific information plus links for more information.
  7. Links to Other Resources

1. Parent Education about Newborn Screening
Whenever possible, information about newborn screening should be introduced to expecting parents sometime during the third trimester. The Nebraska Newborn Screening Program  (NNSP) has free materials available to help you.

To request materials:

“Parents Guide to Your Babies Newborn Screening”  (Brochure) please call (402) 471-9731 or email newborn.screening@dhhs.ne.gov.   Newborn screening for heritable conditions has expanded tremendously in the last few years.  Therefore, the sooner, and more frequently parents are exposed to the information, the more likely they will have had an opportunity to think about it and ask any questions they may have.

The printed brochure “Parent’s Guide to Your Baby’s Newborn Screening" can help you educate parents. Also, all Nebraska birth facilities have a copy of the video "Newborn Screening Protecting Your Babies Health".  There is also a new page introductory piece appropriate for parents during the third trimester prenatal NBS one pager.pdf.

There is however, no substitute for the conversation between the physician and parents about newborn screening. Parents should have an opportunity to ask their baby’s physician questions about the newborn screen.

A survey conducted in 2003 of Nebraska birthing hospital personnel involved with patient education and  specimen collection for newborn screening revealed these issues as the most common concerns of parents:

 PARENT’s CONCERN

INFORMATION TO HELP WITH RESPONSE

Cost of the testing

Most insurers, including Medicaid cover the cost of newborn screening testing as part of the obstetric diagnostic related group (OB DRG).  
The laboratory charges the hospital $38.50.
Hospital charges for collection and handling of the specimen vary, and are not regulated by the State Newborn Screening Program.

Concern about the heelstick

The heelstick procedure requires a small puncture to the baby’s heel to collect five drops of blood. Hospital staff are trained to follow procedures to minimize the risk of infection. The poke to the baby’s heel usually heals quickly.  Studies have shown success in reducing the behavioral signs of pain (crying), by a) administering 1 ml. 30% glucose solution (sharing some properties of colostrum shown to have a calming effect), or nursing during the procedure.

Concern about having the testing all together

Most people are assured when they understand that this kind of testing is:
  • routinely done
  • required in all U.S. States, industrialized countries, and some developing countries
  • has been done for over 40 years, and
  • has saved thousand’s of newborns from mental retardation, other problems and infant death.

Concern about child’s insurability if found to have a condition

While this is a legitimate concern, the insurability issue may arise under two circumstances that should be considered:

1) the child is found to have the condition on screening and preventive treatment ensures a healthy life, or;
2) the child is found to have the condition only after damage has occurred (because they did not receive the screening results) resulting in mental retardation, physical disability or death.   
The child with the diagnosis could have problems getting insurance, whether screened or not.  It’s preferable to get the diagnosis in time to prevent the damaging effects of the condition. (see below for financial resources available). 

GINA, the “Genetic Information Non-Discrimination Act” is an important piece of Federal legislation that was passed by Congress and signed by the President in 2008.  This Act provides some protections from using genetic information to discriminate against individuals.
Concern about their ability to care for a child with a metabolic condition


Concern about the availability of treatment




 
 
Concern about ability to pay for treatment
There’s no question, families face many challenges with some of the conditions. But there are many good resources available in Nebraska, so families don’t have to "go it alone.”
There are parent support groups for most conditions.
 
Pediatric sub-specialists are all available in Nebraska:
  • endocrinology,
  • metabolism,
  • hematology
  • and CF

The specialty clinics have allied health specialists such as advanced practice nurses and dietitians with expertise in metabolic conditions. Nurses specializing in endocrine, hematologic conditions and CF Care also staff these clinics.   Genetic counseling services are also available.

The Medically Handicapped Children’s Program and Early Intervention Services Coordination must be able to help.  Referrals to the Early Development Network/ “Childfind” can get them connected:  1-888-806-6287 or www.nde.state.ne.us/ECH/EARLY/echp.htm

Help with financial and developmental needs (depending on the condition) may be available through the State Children with Special Health Care Needs Program. For some of the conditions where treatment is expensive and insurance doesn’t cover it, the state newborn screening program has resources to help (e.g. for metabolic formula, and pharmaceutically manufactured foods).  There are also programs available through Medicaid and Medicaid Waivers.

 

Do not wish to have any testing

The law in Nebraska does not allow parents to sign a "waiver" or "dissent" from the required newborn screening panel. It’s not allowed for any reason, religious or otherwise. County courts in Nebraska have heard three cases, and in all three the judge ruled the child must be screened. An appeal to the Nebraska Supreme Court was heard in 2005.  The Nebraska Supreme Court unanimously upheld the requirement that all newborns must be screened. Likewise, a Federal District Court Ruling in 2006 upheld the law. 

A 2007 survey of state newborn screening programs revealed eight babies in recent years who were missed due to parent refusal to have them screened.  Four with PKU, three with congenital hypothyroidism, and one who died from Galactosemia.  Other “near misses” were reported of children affected with PKU, Congenital hypothyroidism and Galactosemia, whose parents initially wanted to refuse testing but were convinced by their midwife or physician to have their newborn screened.

Concern about revealing parentage

Three of 43 respondents to the survey identified this as a concern. This is a potential reality of testing. Physicians/Health Care Professionals should discuss how they will handle such situations if a patient expresses concern in this area.

Concern about the social stigma associated with having an inherited condition

Unfortunately this may be legitimate in today’s society. An inherited condition can have major implications for the child’s quality of life. However, the quality of life can be improved with early intervention and treatment.   Parent to parent support groups and networks are available to help families deal with this.

Patient doesn’t understand what is screened for

The conditions screened are many and complex. Physicians should provide a basic explanation of newborn screening to parents, and offer to discuss any questions the parents have.  This is especially important when literacy skills may be limited.

Language barriers may also be an issue. The "Parent’s Guide" and consent form are available in:

  • English,
  • Spanish,
  • Vietnamese,
  • Arabic,
  • Russian,
  • Chinese,
  • French, and
  • Sudanese dialects of:
         Anuak, Dinka & Nuer.

Oral interpreters may be needed if literacy levels are in question, or if the parents don’t speak or read any of the available languages of the educational materials.

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2. Ordering the Newborn Screen
According to Nebraska’s State Law (and as specified in regulations) the physician is responsible for ordering the newborn screen. In many birthing facilities, procedures are established for standing orders to ensure this is done. The ordering physician should be the newborn’s attending physician (not the mother’s physician unless one and the same).

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3. Obtaining Newborn Screening Results
There are a number of options available to Physicians/Health Care Professionals for obtaining the screening results:

Positive Results:   You will receive a phone call and fax for any positive screening result that needs confirmatory testing follow up.  The fax will include an ACT (action) sheet with recommendations for next steps, as well as parent information sheet you may wish to provide to the parents.

Other (not normal) results: You will receive a phone call and fax for any inconclusive result and any specimen collected too early, unsatisfactory, or collected after a transfusion.  These need repeat dried blood spot specimens collected.

All Results (including normal): Records of all newborn screening results are sent to every submitter (usually the birthing facility). A variety of mechanisms are in place for Physicians/Health Care Professionals to access those results.

  • Some hospitals automatically forward copies to the physician.

  • Some hospitals provide electronic access to the Perkin Elmer lab results via their hospital information system. All hospitals can have electronic access directly to the newborn screening laboratory results. The hospital’s Physicians/Health Care Professionals may access results through that system as well with prior authorization.  Contact the laboratory at 412-220-2300 to establish secure access to your patients' results

  • Some hospitals re-enter the results into their hospital LIMS system, and forward a copy to the physician, or make electronic access available.

Most results are available within 48 hours of receipt at the screening laboratory. They should be available before the first well child check at 1 to 2 weeks old.

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4. Communicating POSITIVE "Screening" Results to Parents
Physicians/Health Care Professionals are in the best position to foster their patient/physician relationship. The element of trust in this relationship will play an important role in parents taking appropriate action when given the news of a positive screening result. This will be a time of high anxiety for new parents already adapting to the major change in their lives.

Try to give some reassurance that the possibility exists the results could be a "false positive", because this does happen in screening programs. On the other hand, be sure not to downplay the importance of taking immediate action to get the baby in for a new specimen. This must be done to confirm or rule out the diagnosis. The sooner action is taken, the sooner treatment can start if the baby is diagnosed. Likewise, if confirmatory testing rules out the condition, the sooner parents can stop worrying.

The State Program will provide you with recommendations for next steps via "ACT sheets". The ACT sheets:

  • Help prepare you to explain the meaning of the screening result,

  • Identify “next steps” and,

  • Provide you with other resources to assist with follow up.

In addition, the program will provide you with parent information sheets, that you can provide to the parents to help with patient education about the specific condition for which their newborn has screened positive.

Sometimes with multiplex testing such as tandem mass spectrometry, the abnormal levels of metabolites are indicators for more than one possible diagnosis. Further testing is essential to be able to determine which metabolic condition the baby may have.

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5. Communicating POSITIVE CONFIRMATORY Results to Parents
We always recommend consultation with and/or referral to a pediatric sub-specialist for the suspected condition.  The conditions screened for are individually rare.   Most physicians caring for newborns wouldn’t be expected to have expertise in them.  

Usually the baby’s physician will have already referred the newborn during the confirmatory/diagnostic process.  Therefore, the pediatric sub-specialist will already be involved with the care of the newborn.  If referral wasn’t made, the newborn's medical home (doctor/health care professional) should consult with the appropriate pediatric sub-specialist to help prepare them to speak with the parents.

The physician or health care professional providing the confirmatory results and diagnosis to the parents should be prepared to provide this information:

  • the specific diagnosis

  • the prognosis for the child with this condition, with and without treatment

  • what recommended treatment consists of

  • what monitoring (office visits, blood tests etc.) to expect

  • any effects of the condition they should be alert for, and what to do in the event symptoms would suggest an emergency

  • discuss the availability and reasons for considering family studies and genetic counseling

  • resources that may be available to them within the state, or nationwide for: specialized care, family support, financial support if needed, and early intervention service coordination.

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6. Act Sheets
So now you have a "positive screening result." What should you do next? Use these "ACT" sheets to provide guidance on recommended next steps when a positive or abnormal newborn screening result is reported for one of your patients. (For more condition specific information, click on the "information" link below the “ACT” sheet link.)

  • Hemoglobinopathies Podcast from UNMC Pediatrics:  Download or listen to audio material on differential diagnosis of hemoglobinopathies.
  • Hemoglobinopathies ACT Sheet (be sure to click the right hemoglobin pattern)

Amino Acid, Fatty Acid and Organic Acid Condition Fact Sheets

Abnormal results from tandem mass spectrometry usually require only a repeat dried blood spot filter paper specimen for repeat testing.  However, when results are significantly out of range, the physician will be advised to consult with or refer the patient to the pediatric metabolic specialist on call. These can indicate a potential neonatal emergency.   We recommend you refer to the ACMG ACT sheets under these circumstances, which are available at the following link:

http://www.acmg.net/resources/policies/ACT/condition-analyte-links.htm

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7. Links to Other Resources

Neonatal Intensive Care Units

 

 

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