Newborn Screening for Metabolic and Sickle Cell Disorders Program

Frequently Asked Questions

What is the Newborn Screening Program?

What disorders are screened for in newborns?

What happens if a newborn has an abnormal test result?

What are the legal requirements for newborn screening?

How can I access test results for a newborn in my care?

For what conditions will my baby be tested?

What is my role as a parent?

But my baby looks healthy. Are the tests still necessary?

Do I have to give permission for my baby to be tested?

How is the test done?

When is the testing done?

Do I have to pay for this test?

Will I be told the tests results?

If a re-test is requested, does it mean my baby may have a condition?

Where can I go to have the re-test done?

If my child has one of the conditions, can it be treated?

Where can I get more information?

What is the incidence of these disorders in Georgia?

Newborn Screening Follow-up Programs

What is the Newborn Screening Program?

Newborn Screening is a program created by a Georgia law in 1969. Its goal is to test all babies born in Georgia for conditions that can cause major illness, mental retardation, or even death if not found early and not treated. Since 1969, Georgia has screened over 2 million babies.

 

What disorders are screened for in newborns?

All newborns are screened for Phenylketonuria, Congenital Hypothyroidism, Maple Syrup Urine Disease, Galactosemia, Tyrosinemia, Homocystinuria, Congenital Adrenal Hyperplasia, Biotinidase Deficiency, Medium-Chain Acyl-CoA Dehydrogenase Deficiency, Sickle Cell Disorders (SS, SC, S-beta thalassemia), Isovaleric acidemia, Glutaric acidemia type I, 3-OH 3-CH3 glutaric aciduria (HMG), Multiple carboxylase deficiency, Methylmalonic acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC), Propionic acidemia, Beta-ketothiolase deficiency, Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD), Long-chain L-3-OH acyl CoA dehydrogenase deficiency (LCHAD), Trifunctional protein deficiency, Carnitine uptake defect, Citrullinemia, Argininosuccinic acidemia, and Cystic Fibrosis.

 

What happens if a newborn has an abnormal test result?

The retrieval, diagnosis, medical management and counseling of affected individuals is through cooperative or contractual arrangements between the Newborn Screening for Metabolic and Sickle Cell Disorders Program, Division of Public Health, Emory University, Medical College of Georgia, Grady Health System, Sickle Cell Foundation of Georgia, and county health departments.

 

What are the legal requirements for newborn screening?

The legal requirements for newborn screening are that every baby in Georgia must have a specimen collected prior to discharge from the hospital regardless of the age of the baby or the status of feeding. If the baby is discharged before 24 hours after birth, the baby must be tested again prior to one week of age. The only legal reason for not collecting a specimen is if the parents object to such testing for religious reasons.

 

How can I access test results for a newborn in my care?

A written report of newborn screening results is mailed to the hospital of birth and the clinician listed on the screening card, provided that this information is included. Results are also available through a Voice Response System for the Newborn Screening Program and the on-line State Electronic Notifiable Disease Surveillance System (SendSS).

 

For what conditions will my baby be tested?

All newborns are screened for the following disorders: Phenylketonuria, Congenital Hypothyroidism, Maple Syrup Urine Disease, Galactosemia, Tyrosinemia, Homocystinuria, Congenital Adrenal Hyperplasia, Biotinidase Deficiency, Medium-Chain Acyl-CoA Dehydrogenase Deficiency, Sickle Cell Disorders (SS, SC, S-beta thalassemia), Isovaleric acidemia, Glutaric acidemia type I, 3-OH 3-CH3 glutaric aciduria (HMG), Multiple carboxylase deficiency, Methylmalonic acidemia, (Cobalamin A and Cobalamin B deficiency) 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC), Propionic acidemia, Beta-ketothiolase deficiency, Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD), Long-chain L-3-OH acyl CoA dehydrogenase deficiency (LCHAD), Trifunctional protein deficiency, Carnitine uptake defect, Citrullinemia, Argininosuccinic acidemia, and Cystic Fibrosis.

 

What is my role as a parent?

Make sure you give your correct address and phone number to the hospital where your baby is born. If you do not have a telephone, give the phone number of someone who knows how to reach you. If possible, give the name and phone number of the doctor who will take care of your baby after leaving the hospital and have them put this doctor's information on your baby's screening card.

Make sure your baby's doctor also has your correct address and phone number. Again, give another contact number if you do not have a telephone. It is important that your baby's doctor be able to contact you quickly if a re-test is needed. If you are asked to bring your baby in for re-testing, do so as soon as you can. If your child does have a condition, quick action is very important.

 

But my baby looks healthy. Are the tests still necessary?

YES! Most infants with a condition found by newborn screening show no signs of the condition right after birth and can usually be identified before the baby becomes sick. If an infant has a condition, and there is a need for special care, your baby’s doctor can be informed.

 

Do I have to give permission for my baby to be tested?

No. The law says that all babies born in Georgia must be tested. You may refuse testing only if it is against your religion. If you do not want to have the test done, you will be asked to sign a statement that says you do not want to have your baby tested because of religious reasons. This statement will go in your baby's medical record.

 

How is the test done?

The heel of your baby's foot will be pricked to get several drops of blood. The blood is put on a newborn screening test card and shipped to the Georgia Public Health Laboratory in Atlanta.

 

When is the testing done?

The Georgia law says that the hospital of birth must do this test before your baby goes home from the hospital. They must also tell you if it is necessary to have a second test done. If you plan to have your baby at home, the test still has to be done. The doctor or nurse that delivers your baby has to tell you where and when to get your baby tested.

 

Do I have to pay for this test?

A fee of $50 is billed to hospitals for specimens submitted for screening. Hospitals, medical offices, and health departments may also charge a small fee to do and send the test. If you are told that your child cannot have this test because you cannot pay the fee, please call the Newborn Screening Program at (404) 657-4143.

 

Will I be told the tests results?

Your baby's doctor should be able to give you this test result. Results are mailed to the hospital of birth and to the doctor listed on the screening card, which may not be your baby's current doctor. If you are seeing a different doctor than the one listed on the screening card in the hospital, the green parent slip given to you after your baby’s test was done, can be given to your baby’s doctor as a reminder to check for your baby’s results at the first health check–up.

 

If a re-test is requested, does it mean my baby may have a condition?

No. There are reasons why a repeat test may be needed. When your baby goes home from the hospital, the hospital has to (by Georgia law) do the first test. The hospital also has to tell you if a second test must be done before one week of age. If the first test is done incorrectly and is not okay for testing, a second test is needed. Having to re-test for these two reasons does not mean that something is wrong with your baby. It simply means that another sample is needed so that the tests can be done correctly.

Finally, if the first test was abnormal for one of the conditions, a second screening test or a confirmatory test may be required. However, having an abnormal screen does not mean that your baby has a problem. The screening test does not say "yes" or "no" to whether or not your child has a condition. Instead, it finds those few babies out of all those tested who may need more specific testing. The confirmatory test does say "yes" or "no" to whether or not your child has a condition. It confirms the abnormal screening result.

 

Where can I go to have the re-test done?

Your baby's doctor may be able to do repeat tests at their office. If not, your local hospital lab or local county health department should be able to do the test. The Sickle Cell Foundation of GA and the Hemoglobin Follow-up Program will also do repeat tests for abnormal hemoglobin results.

 

If my child has one of the conditions, can it be treated?

There is treatment for each of these conditions. The treatment may be a medication, special diet, or both. For more information on the type of treatment that is available for each condition, ask your doctor or contact the organizations listed in the last part of this information.

 

Where can I get more information?

For general information about the Georgia Newborn Screening Program, call (404) 657-4143, or visit http://health.state.ga.us/programs/nsmscd/.

Newborn Screening Laboratory
Georgia Public Health Laboratory
1749 Clairmont Rd.
Decatur, GA 30033-4050
Phone: (404) 327-7950
Fax: (404) 327-7919

American Academy of Pediatrics, Georgia Chapter
1330 West Peachtree Street NW, Ste 500
Atlanta, GA 30309
(404) 876-7535
http://www.gaaap.org: local chapter website
http://test.medicalhomeinfo.org/screening/newborn.html/: National website, contains newborn screening fact sheets

 

What is the incidence of these disorders in Georgia?

Disorder	Incidence
3-Methlycrotonly-CoA carboxylase deficiency (3MCC)	1: 50,000
Argininosuccinic aciduria (ASA)	1: 70,000
Beta-ketothiolase deficiency (BKT)	Unknown
Biotinidase Deficiency	1: 60,000
Carnitine uptake defect (Group of disorders including CPT I, II, Translocase)	1: 40,000
Citrullinemia (CIT)	1: 200,000
Congenital Adrenal Hypoplasia (CAH)	1: 19,000 (GA)
Cystic Fibrosis (CF)	1: 2,500 Caucasians 1: 17,000 African Americans
Galactosemia	1: 40,000 (GA)
Gultaric acidemia type I (GAI)	Fewer than 100 cases in US
3-OH3-CH3 gultaric aciduria (HMG)	Fewer than 100 cases in US
Hemoglobinopathies	1: 1,300 (GA)
Homocystinuria	1: 350,000 (GA)
Hypothyroidism	1: 4,000 (GA)
Isovaleric acidemia (IVA)	1: 50,000
Long-chain L-3-OH acyl-CoAdehydrogenase deficiency (LCHAD)	1: 200,000
Maple Syrup Urine Disease (MSUD)	1: 130,000 (GA)
Medium Chain-Acyl-CoA Dehydrogenase Deficiency (MCAD)	1: 15,000 (US)
Methylmalonic acidemias (Mutase deficiency or Cbl A,B)	1: 50,000 to 1: 100,000
Multiple carboxylase deficiency (MCD) Synonym: Holocarboxylase deficiency	1; 87,000
Phenylketonuria (PKU)	1: 17,000 (GA)
Propionic acidemia (PROP)	1: 100,000
Trifunctional protein deficiency (TFP)	Rare
Tyrosinemia	1: 400,000 (GA)
Very long-chain acyl-CoA Dehydrogenase deficiency (VLCAD)	1: 69,000

Newborn Screening Follow-up Programs

For questions about Phenylketonuria, Congenital Hypothyroidism, Maple Syrup Urine Disease, Galactosemia, Tyrosinemia, Homocystinuria, Congenital Adrenal Hyperplasia, Biotinidase Deficiency, Medium-Chain Acyl-CoA Dehydrogenase Deficiency, Sickle Cell Disorders (SS, SC, S-beta thalassemia), Isovaleric acidemia, Glutaric acidemia type I, 3-OH 3-CH3 glutaric aciduria (HMG), Multiple carboxylase deficiency, Methylmalonic acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC), Propionic acidemia, Beta-ketothiolase deficiency, Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD), Long-chain L-3-OH acyl CoA dehydrogenase deficiency (LCHAD), Trifunctional protein deficiency, Carnitine uptake defect, Citrullinemia, Argininosuccinic acidemia, and Cystic Fibrosis, call the Newborn Screening Follow-up Program, Emory University Division of Medical Genetics at (404) 778-8560.

For questions about Sickle Cell Disease and other hemoglobin disease states (FS, FSC, FE, FSA, etc.) call either the New Born Screening Program Coordinator at the Georgia Department of Public Health at (404) 463-0815 or the follow-up program at the Medical College of Georgia in Augusta at (706) 721-6251. Also visit http://www.SCInfo.org for additional information.

For questions about hemoglobin trait, variant trait, or hemoglobin Bart's, call the Sickle Cell Foundation of Georgia in Atlanta at (404) 755-1641 or 1-800-326-5287 (toll free).

Additional information about newborn screening can be provided by the following organizations:

Save Babies Through Screening Foundation, Inc.
(A Parent Resource on Newborn Screening)
4 Manor View Circle
Malvern, PA 19355-1622
Toll free: 1-888-454-3383
http://www.savebabies.org

March of Dimes, Georgia Chapter
1776 Peachtree Street NW, Ste 100
Atlanta, GA 30309
(404) 350-9800
http://www.marchofdimes.com/georgia
http://www.marchofdimes.com (national)

<<BACK