There are many things to think about when preparing for a new baby. In addition to all of the prenatal check-ups, creating a birth-plan, setting up the nursery, ordering all the diapers, etc., there is one more thing that all new parents are required to do in the state of New York.
All babies born in New York State are screened for a series of diseases and disorders. The Newborn Screening Program was established by Public Health Law in 1965, mandating that every newborn in New York be screened for Phenylketonuria (PKU). Today, this is a requirement to screen for a multitude of genetic, metabolic, infectious, and hormonal diseases. This includes HIV testing since it was made mandatory for all New York State newborns in 1997. Most of these disorders have symptoms that are not immediately apparent after birth. Meaning, the newborn babies might otherwise appear to be healthy, but still would need to be tested in order to find out if they have a disorder. The main goal of this screening is to diagnose any one of these diseases before they become symptomatic. For this reason, testing usually would occur prior to discharge from a hospital or at the first postpartum check-up, whether meeting with a family practitioner or with your homebirth midwives. Your postpartum healthcare provider will have the required materials provided by the state and will administer the test. The process begins by holding the baby still, pricking their heel and squeezing their foot to get blood to fill in 5 circles on a standardized form. The dried blood samples on the form are then sent out and the test results typically come back within 7 days.
In New York, babies are tested for 50 disorders. It is unlikely that any baby be born in the U.S. will have any one of the 50 disorders that they test for, however, 1 in every 300 babies born in New York will have one of them. There exists a list of screened diseases, each with a range of symptoms. Some of those consist of, but are not limited to: muscle problems, developmental delay, respiratory complications, uncontrollable movements, poor appetite, tiredness, seizures, vomiting, constipation, liver problems and jaundice, poor coordination, skin lesions, photophobia, anemia, organ damage, blindness, deafness, brain damage, and death.
It is important to screen early, because, for many of the diseases tested for, if a diagnosis is made quickly, and treatment is started early-on, it greatly reduces the risks of having to suffer the more severe symptoms of these diseases and to live healthier lives. Treatment could involve beginning to take a medication or, especially for metabolic disorders, the treatment might be as gentle as having a specific diet to help cope with the condition.
Neonatal screening is a requirement in New York State with exceptions for religious reasons for not wanting to participate. Baby’s First Test shares that the,
“New York State Department of Health regulations require that the birthing facility, physician, or public health officer inform parents about the purpose and need for screening and provide them with educational materials. If they wish to not have their baby screened, parents are asked to attest via signature that they are turning down this public health program, and accept the possibility that their child may become ill with one of these conditions.”
The screening is required in all 50 states, but it is up to each state to decide how to facilitate the neonatal screening. Different states test for different disorders, but there are efforts to minimize variability across states. The United States Secretary of Health and Human Services created the Recommended Uniform Screening Panel (RUSP), to clarify which diseases and disorders should be screened for. Alex R Kemper, MD, MPH, MS writes in their topic article, Newborn screening, published on UptoDate, that the recommendations of RUSP are, “informed by the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. The committee also welcomes nominations of additional conditions to be included in RUSP at the Advisory Committee’s nomination webpage“. This means that the list is regularly updated with research findings.
As it is legally required, the mandated newborn screening is free to all families in New York State. However, there is controversy over funding and resource allocation for this program. The screening is not simply testing and sharing results; it is also coordinating things like, research to ensure the quality of the testing equipment, being able to provide the right kind of follow-up care, and other general operating costs.
Another controversy with this testing is that after the dried blood has been screened, it is then stored for further research. Regulations provide that the specimens remain anonymous when being stored, however, this still gives some families reason to feel concern in regards to their privacy. In New York State, for example, blood specimens can be stored for up to 27 years. According to Baby’s First Test, each blood sample is not stored with information that would directly identify the newborn, and the storage conditions are strictly controlled.
Kemper also explains that the stored dried blood spots are used to ensure that laboratory equipment is working as it should and to ensure a proper development of new newborn screening tests. It is through this research process that the screening system that is used today was made possible. The samples are also used for “population-based research, helping states to better understand the factors that contribute to the health of their residents,” and to better address public health issues. However, some parents might still feel uncomfortable with their babies blood specimen being stored. CNN Health published an article, written by Susan Scutti, that touches on some of the ethics surrounding genetic testing. HIPAA offers some protections as far as patient identity and their DNA samples are concerned, but there are other questions raised without concrete answers. Such as the fact that the child cannot consent to these tests, or that some people are concerned that genetic testing could be used by health insurance deny health coverage. Some are worried about the possibility of this genetic information possibly being linked to discrimination in other areas of life such as being limited to employment opportunities or social injustices.
Due to these concerns, on New York State’s pink slip, parents are directly informed that the specimen will be stored for up to 27 years to be used for follow-up testing and/or research. They also explicitly say that, “the specimen will be stripped of all information that might identify your child.” Parents are invited to call (518) 473-7552 for instructions to arrange to have their child’s specimen destroyed or prevented from being used in public health research, should they still find the ethics of blood storage to be questionable.
Additional information about newborn screening in the United States and New York State can be found by checking out resources from:
Written by Gabrielle Cappelletti, the intern.