Blood Spot Screening Information

Table of Contents

How it works

How is the blood spot collected?

Newborn screening is a very quick procedure. Drops of blood are obtained by pricking the baby’s heel at least 24 hours after the baby's birth. If born in the hospital, hospital staff will collect the blood from the baby's heel soon after the baby is 24 hours old, and before the baby is 48 hours old. If born outside of the hospital, the screening can be arranged with the baby’s health care provider, midwife, local hospital or public health nursing agency, to be done 24 hours to 48 hours after birth.

About 5 spots of blood are collected on a special collection form.

This is what the form looks like:

[photo of blood being collected from a baby's heel and applied to collection paper]

Besides the blood spots, the form contains other important information necessary to complete the screening test and follow up on any results. This includes the mother's name, baby's name and date and time of birth, and who the baby's health care provider will be. It is very important to know who your baby's health care provider will be before you have your baby. If there is an abnormal result we need to be able to talk to the health care provider right away to make sure the baby is getting the right treatment as soon as possible. 

How long does the testing take?

The collection form with the baby's blood spots on it is picked up by a special courier (transportation) service, and taken to the laboratory for testing the same day it is picked up. The State Hygienic Laboratory newborn screening lab is in Ankeny, Iowa. The lab starts the testing process right away.

Sometimes the blood spot collection form does not have enough blood on it, or something else is wrong with it - like it may be torn, it might have too much blood on it, or it may have been exposed to elements that could affect the test results so that they are not accurate. If this happens, the lab will contact the hospital or your baby's health care provider to have the blood spots collected again.

The testing takes at least 24 hours, and may take up to two days before results are known. 

How can I find out the results?

Results are given to the hospital or to the baby's health care provider. Your baby's health care provider can share those results with you. Many times, if the results are all normal, the health care provider may not mention it until you ask.

Results

Remember, this is a screening test, not a test to diagnose for sure that your baby has a disorder.

If your baby's newborn screen shows an abnormal result, a group of specially trained nurses and doctors at the Iowa Newborn Screening Program Short-term Follow-up office are notified. One of the nurses will notify your baby's health care provider about the results, and make suggestions about next steps. 

Your baby's health care provider will talk to you about what to do next. Your provider may start some treatments right away while you wait on further tests. This is just to be sure the baby is getting the best care as quickly as possible.

Some health care providers may have you talk about your baby's care directly with the specialists from the newborn screening program.

The Iowa Newborn Screening Program Short-term Follow-up office staff are happy to answer any questions you may have. You can call them at 1-866-890-5965 or 319-384-5097.

Cost 

Iowa law sets the newborn screening fee at $162. This includes expenses for the equipment, laboratory staff and supplies, a courier service that delivers the samples to the laboratory and professional follow up.

This fee is usually part of your hospital bill and covered by your insurance company. If you have a community-based birth, your provider may submit payment when the blood spot specimen is sent to the newborn screening laboratory.

There is no charge for a re-screen sample by the newborn screening program if it is necessary.

Disorders Screened

When the specimen is sent to the State Hygienic Laboratory at the University of Iowa newborn screening lab in Ankeny, Iowa, the sample is tested for a large variety of disorders. When a possible disorder has been detected, we alert the baby’s health care provider to the need for further testing or special care. By intervening early, complications from these disorders can be prevented.

In Iowa, the blood spot screening program screens for over 40 primary and secondary disorders. The following sections list the disorders on the Iowa newborn screening panel.

Amino Acidemias/Urea Cycle

  • (ASA) Argininosuccinic aciduria
  • (CIT) Citrullinemia, type 1 or ASA Synthetase Deficiency
  • (HCY) Homocystinuria (cystathionine beta synthetase)
  • (MSUD) Maple Syrup Urine Disease
  • (PKU) Classic Phenylketonuria
  • (TYR-1) Tyrosinemia, type I

Organic Acidemias

  • (GA-1) Glutaric acidemia type I
  • (HMG) 3-Hydroxy 3-methylglutaric aciduria
  • (IVA) Isovaleric acidemia
  • (3-MCC) 3-Methylcrotonyl-CoA carboxylase
  • (Cbl-A,B) Methylmalonic acidemia (cobalamin disorders, vitamin B12 disorders)
  • (βKT) βeta-Ketothiolase
  • (MUT) Methylmalonic Acidemia (methylmalonyl-CoA mutase)
  • (PROP) Propionic acidemia
  • (MCD) Holocarboxylase synthase

Fatty Acid Oxidation

  • (CUD) Carnitine uptake defect (Carnitine transport defect)
  • (LCHAD) Long-chain L-3 hydroxyacyl-CoA dehydrogenase
  • (MCAD) Medium chain acyl-CoA dehydrogenase
  • (TFP) Trifunctional protein deficiency
  • (VLCAD) Very long-chain acyl-CoA dehydrogenase

Other Disorders

Endocrine

  • ​(CAH) Congenital adrenal hyperplasia
  • (CH) Primary Congenital hypothyroidism

Hemoglobinopathies

Other

After the Screen

In the screening process, there may be some of the dried blood spots left over. Learn more below about the procedures in place for handling the remaining sample.

In the screening process, there may be some of the dried blood spot left over. Learn more below about the protocols in place in handling the remaining sample.

Is all of the dried blood spot used?

Frequently, a very small amount of sample is left after the screening is complete. Iowa law allows these to be stored for a period of five years in a locked, secure facility at the State Hygienic Laboratory in Ankeny, Iowa. After this time the blood spots are destroyed. All identifying information is protected by being stored separately and given a unique identification number.

Why does Iowa store the residual dried blood spot specimens?

The leftover dried blood spot is used for several different purposes. The babies’ names and dates of birth are kept confidential.

First, they are used to monitor the quality of testing and accuracy of results, a common practice in most laboratories. The same test done a month apart should yield the same result.

Second, they are used to make sure that improved testing methods are running properly.

Finally, they can be used for the benefit of your child and family later on. A child’s sample may be accessed if other health problems develop, the results need to be repeated, a missing or deceased child needs to be identified or investigated or parents request risk information for future pregnancies.

Are the specimens used for research?

Per Iowa Administrative Code 641 IAC 4:
Retention, use and disposition of residual newborn screening specimens.

Research - A residual newborn screening specimen may be released for research purposes only if written consent has been received by the researcher from a parent or guardian of the child, or the individual adult upon whom the screening was performed, and each of the following conditions is satisfied:
(1) Investigators shall submit proposals to use residual newborn screening specimens to the center. Any intended use of the requested specimens as part of the research study must be clearly delineated in the proposal.
(2) Before research can commence, proposals shall be approved by the researcher’s institutional review board, the congenital and inherited disorders advisory committee, and the department.
(3) Research on residual newborn screening specimens shall be allowed only in instances where research would further: newborn screening activities; the health of an infant or child for whom no other specimens are available or readily attainable; general medical knowledge for existing public health surveillance activities; public health purposes; or medical knowledge to advance the public health.
(4) For specimens collected prior to January 1, 2016, a parent or guardian may send a letter stating that the newborn’s specimen is not to be released for research purposes. This letter shall include the parent’s or guardian’s name, the newborn’s name at birth, and the newborn’s date of birth. The letter of notice shall be sent to the State Hygienic Laboratory at Newborn Screening Program, State Hygienic Laboratory, 2220 S. Ankeny Blvd., Ankeny, Iowa 50023-9093.

Newborn screening program operations - Residual newborn screening specimens may be used for activities, testing, and procedures directly related to the operation of the newborn screening program, including confirmatory testing, laboratory quality control assurance and improvement, calibration of equipment, evaluation and improvement of the accuracy of newborn screening tests, and validation of equipment and screening methods, and the use of linked specimens in feasibility studies approved by the Congenital and Inherited Disorders Advisory Committee for the purpose of incorporating new tests or evaluating new test methodologies.

Prohibited uses - A residual newborn screening specimen shall not be released to any person or entity for commercial purposes or law enforcement purposes or to establish a database for forensic identification.

What about my baby’s DNA?

The State Hygienic Laboratory does not routinely conduct DNA analysis on newborn screening specimens. It may be done as needed to identify a particular genetic mutation in order to create a plan of care for the baby. The recommendation for DNA analysis is typically given to the baby’s primary care provider. DNA within the blood samples does not breach confidentiality of the owner, as another sample must be provided for comparison to make identification.

What if I don't want my baby's specimen stored after the newborn screening is completed?

If you do not want your baby's left over blood spots stored at the State Hygienic Laboratory, please contact the Iowa Newborn Screening Program Executive Officer at 1-800-383-3826 to discuss options. You may chose to have the left over blood spots destroyed or returned to you.

Below are the forms you would need to fill out and send to the newborn screening program executive officer:

Request to Destroy Left Over Blood Spots

Request for Return of Left Over Blood Spots

Refusal of Blood Spot Screening

What if I don't want my baby to get screened?

Iowa Law requires all babies to receive newborn blood spot screening because it is so important to find these disorders and provide treatment as soon as possible to prevent severe effects or even death.

After hearing or reading all the information about newborn blood spot screening, a newborn's parent or guardian may decide to not have their baby receive newborn blood spot screening, they may choose to opt-out of (or refuse) the screening. 

Your baby's health care provider will provide the refusal form for your review and signature.