Do I have to let the state health department have a sample of my baby’s blood?

As if labor, delivery, and postpartum recovery were not enough to deal with upon a newborn’s arrival, there are also postnatal laws and regulations parents will encounter. One of these is the required newborn screening (NBS) process, which can also be referred to as metabolic screening, genetic screening, or screening for congenital disorders.

There are 3 primary tests which are part of the standard screening procedure in every state: blood spot, heart, and hearing screening. This article focuses on the first and most intrusive: blood spot screening.

Blood spot screening is required by law in nearly every state. Ensuring testing occurs is most often the responsibility of the attending medical professional, but sometimes it specifically rests with the parents—applying even to home births.

Several states allow parents to refuse screening for any reason while others limit the options to religious exemptions only. Noncompliance can lead to departmental investigations and even potential criminal penalties.

Blood spot screening, which can also be called the heel prick, heel stick, or Guthrie test, involves a medical professional puncturing a newborn’s heel and squeezing out approximately 5 drops of blood onto a special slip of paper.

Most states require that the blood specimen be collected between 24 and 48 hours after birth. The blood samples are then air dried and delivered to a state-designated laboratory for testing. Results are reported to both the state health department and the newborn’s primary healthcare provider, who then notifies the parents if the test identifies anything concerning.

If the parents object to the test, the health department is typically notified of the refusal, sometimes by the exemption form being submitted to the department, NBS program, or even the testing laboratory. This “reporting” to the health department is not the same as a report to CPS or similar agencies for suspected child abuse or neglect. However, sometimes parents have been threatened with reports to CPS for refusing the test.

This testing is meant to identify whether the infant was born with any specified congenital diseases. Depending on the state, the laboratory may screen for anywhere from 30 to 70 separate disorders, but this does not alter the collection procedure in any way. Required disorders are often based on the national guidelines known as the Recommended Uniform Screening Panel (RUSP).

The original blood spot screening test was developed by Dr. Robert Guthrie in the 1960’s to identify phenylketonuria (PKU). As such, blood spot screening is sometimes referred to as the “PKU test,” but this is a misnomer because every state screens for much more than PKU.

In addition to the initial test, a handful of states require a second screening around two weeks after birth. If a blood specimen is collected within 24 hours of birth, it is generally considered to be too early and an additional screening is required. This is also the case if the laboratory deems the blood sample to be insufficient or somehow spoiled.

Note that these collection timelines are often different for NICU babies, and our research does not address that. However, parental rights to refuse screening generally will apply in the same way. Most often, parents may object in writing on religious grounds only.

Visit our law and policy page to learn what the law is in your state. Parents should know the law to avoid issues and to make informed decisions for their newborn children. You can learn more about the newborn screening program at https://newbornscreening.hrsa.gov/.

Parents may wonder what happens to their child’s blood samples after the genetic test is performed. The answer to that varies by state and will be the subject of a future article and law and policy summary.