The physician must know which diseases are screened at birth in the state of Illinois and what mechanism are utilized to inform the physicians and parents of the results.  It is imperative that the pediatrician check the State Screening results on all patients that they follow and record the resuts in the infants chart. The physician must also be knowledgeable of what to do when a test comes back abnormal.

Case 1

You get called by the state lab that one of your patients tested positive for galactosemia on a specimen submitted in the nursery.  How should you proceed? 

The test needs to be repeated but initially you must make sure that the patient is feeding and acting well. A visit with the pediatrician should be arranged to examine the neonate and discuss the implications of the result with the parents.  It is important to put the infant on a lactose free formula pending the results of the repeat test and nursing must be stopped. Substitute formulas include any soy and special lactose free formulas. If the repeat test is positive, the child should be maintained on the lactose free diet and referred to a geneticist or metabolic specialist.  If the test is negative, the infant can go back to breastfeeding or a milk based formula.

Case 2

You are informed that the screening test on one of your patients was abnormal with an elevated 17-OH Progesterone level. What should you do after being notified?

The test needs to be repeated but you must make sure that the patient is acting and feeding well. Patients may present with symptoms similar to sepsis with poor feeding, lethargy, vomiting, and evidence of salt losing and shock. An appointment should be given to see the neonate soon. The infant should be checked for evidence of virilization.  Their electrolytes will demonstrate hyponatremia and later hyperkalemia.  If the repeat test is positive, the patient should be referred to an endocrinologist.
 

Screening Tests in Illinois

1. Biotinidase Deficiency- if there is a positive test, must be repeated
2. Congenital Adrenal Hyperplasia
3. Galactosemia
4. Hemoglobinopathies-should refer to a hematologist for further evaluation
5. Hypothyroidism- abnormal test must be repeated. Most commonly due to congenital absence of the thyroid gland. Refer to endocrinologist.
6. Phenylketonuria- if positive should be repeated and if remains positve, special diet without phenylalanine should be started. Also refer to a metabolic disease specialist. 
7. Hearing
8. Beginning in July 2002, mass spectroscopy newborn screening has begun in Illinois.  http://www.idph.state.il.us/HealthWellness/disorderlist.htm  This testing will detect 25 individual disorders: amino acid disorders, organic acid disorders, and fatty acid oxidation disorders.  Results are classified as "presumptive positive" and "borderline positives". A presumptive positve has a 1/4 chanice of being a true positive and borderline positives will be normal in about 95% of the cases.  The physician will be notified by the state Newborn Screening Program if there is a presumpitive postive and an information sheet and consultant list will be forwarded by fax.  It is the respoonsibility of the physician to notify the family, determine the clinical status of the newborn, and and refer the neonate to the proper consultant. 
9. Borderline positive results will be mailed to the physician and and they must still contact the familiy and determine the clinical condition of the neonate. If necessary, the patient should be referred to a consultant.
10. Retesting and consultant fees are covered by the State. Special formulas and foods are also covered by the State. 
11. Turnaround times have averaged 11 days with most of the delays occurring between the time of colloection and reception at the State Lab. 
12. State Lab phone number- 217 785-8101
13. Dr. Darrell Waggoner, University of Chicago Children's Hospital 773 834-0555. dwaggone@genetics.bsd.uchicago.edu

1. Illinois Department of Public Health. Newborn Screening Practitioner's Manual 1996
2. Irons,M. Screening for Metabolic Disorders. How are we doing? Pediatric Clinics of North America 1993 40:5 1073-1085.
3. Desposito F. et al. Survey of Pediatrician Practices in Retrieving Statewide Authorized Newborn Screening Results. Pediatircs August 2001 (Electronic Pages)
4. NIH Consensus Development Panel Phenylketonuria Pediatrics October 2001
5. Schulze A. et al. Expanded Newborn Screening by Tandem Mass Spectrometry.  Pediatrics June 2003
6. Speiser P.W. and White P.C. Medical Progress: Congenital Adrenal Hyperplasia NEJM August 21 2003 Vol 349 No. 8 Page 776
7. Gurian E. et al.  Expanded Newborn Screening for Biochemical Disorders: The Effect of a False-Positive Result.  Pediatrics June 2006
8. American Academy of Pediatrics.  Newborn Screening and Therapy for Congenital Hypothyroidism  Pediatrics June 2006