Informed Consent Information Education Material

Nevada Newborn Screening Program

Parent Refusal to Have an Infant Screened

A parent may refuse screening for personal and/or religious beliefs. The majority agree to screening if properly counseled about the importance of early detection. Infants have been harmed as a result of the decision against screening as the "conditions were too rare", or "we don't want to poke the infant", or "the second test is not really necessary". In the event that parents are adamantly opposed to screening, it is the responsibility of the practitioner to fully inform them about the process and all screening conditions and to obtain a signed Newborn Screening Test Refusal (Informed Dissent) document. This document is placed in the infant's medical record with a copy given to the parents, and copies forwarded to the Nevada State Public Health Laboratory and the infant's primary care provider.

Infants Who Are Never Tested

While screening programs are now universal in the United States, it is estimated that approximately 1‐2 percent of births are not screened either because of parental refusal or practitioner oversight or omission. For every 1 percent of newborns not screened in the United States, approximately 45‐50 infants will be missed each year.

Common Newborn Screening Misconceptions

The diseases are so rare that it is not necessary to have the screening done

FACT: NBS identifies 1:1,000 infants with one of the conditions included in the screening panel. Nationally, this represents 5,000 infants/year that would otherwise die or become irreversibly harmed by a late or missed diagnosis. In Nevada, 45‐50 infants are identified each year, or about one infant per week.

The first test is of no value if obtained before a specific recommended time

FACT: 90 percent of affected infants have abnormal results on the first test regardless of age or food ingestion. The ability to identify infants relates to a combination of the severity of their genetic disorder, physiologic and environmental factors, the quality of their screening specimen, and the rapidity of the entire screening system to find them before they become symptomatic. There is nothing magic about a specific age cutoff as each disorder has its own "best screening window" and they are all different. Dietary intake dose make a difference in galactosemia, in that a galactosemic infant on a soy‐based or other non‐lactose formula would not be ingesting galactose and may have false positive results although newer laboratory assays make that less likely. Infants who are well fed may have normal acylcarnitines for fatty acid disorders. Dietary information is helpful to evaluate the significance of certain abnormal results.

The second screen is unnecessary

FACT: Approximately 11 states mandate a second screen for every infant and virtually all states recommend it if the first screen is drawn before 24 hours of age. In Nevada and other states with repeat screens, 10 percent of all infants affected are routinely found on the second screen. Approximately four of the conditions on the screening panel may take a week or more to manifest themselves, long after an infant has been discharged and screened the first time.

The second screen is unnecessary if the first screen is collected when the infant is 5‐7 days of age

FACT: More than 20 conditions on the screening panel can kill or maim in the first week to 10 days of life. To delay screening would mean almost certain death or disability for these infants and a test at 5‐7 days is too early to pick up many of the later onset disorders. A test at the end of the first week of life is better than no test, but is probably the worst time to collect it in terms of saving infant's lives and mental capacity.

The pain of specimen collection is so great for the infant that screening is not "worth it", or that the infant will suffer permanent psychological damage

FACT: The pain of a heel stick can be minimized if not eliminated by using a scalpel bladed lancet device and by feeding the infant a small amount of sucrose water or breast milk before and during the procedure. Many families can attest that it is far more painful to have the infant die or to spend one's life permanently damaged because a few drops of blood were not collected at birth.

Newborn screening is "just a piece of paperwork" to be gotten out of the way

FACT: Newborn screening represents one of the most successful public health programs ever undertaken in terms of prevention and cost savings, surpassing even immunizations. It is true that most programs do not do enough to alert practitioners to their importance and value to the screening process and to the number of infants identified.

Newborn screening is a test for "mental retardation"

FACT: Newborn screening tests for certain conditions that in some cases can lead to mental retardation. It is by no means a test for all sources of mental retardation and a normal screening result does not mean an infant will have mental retardation due to other causes.

The antiquated term "PKU test" is used, which implies to parents that PKU is the only condition screened for

FACT: More than 30 separate disorders (including PKU) can now be screened for in the newborn period. PKU has not been the only disorder on most screening batteries since the mid‐70s when hypothyroidism was added. The correct term is newborn screening (NBS). New conditions continue to be added to the screening panel as they are recommended at the federal level and approved at the state level.