Newborn screening involves taking a small blood sample from the baby's heel to test for rare but treatable genetic and metabolic conditions. Screening began in the 1960s with a test for phenylketonuria (PKU) and has expanded to include dozens of other disorders detectable through techniques like tandem mass spectrometry. While screening identifies conditions in babies that would otherwise go undiagnosed, it also detects variants of unknown significance and may cause elevated parental anxiety in the small percentage of cases where initial results are false positives. Both the costs and benefits of expanding newborn screening must be considered.
29. Implications Positive predictive value = 2/502 = .4% That is, of the newborns seen clinically who have tested positive, only .4% will have the disease.
34. Do you mandate testing or make it voluntary?- At what pace do you introduce new tests (safety/efficacy concerns)? - As new tests are developed, should newborns be screened for genetic traits? - What types of information should be given to parents and when?
37. Hospitals should be able to save newborn screening blood samples for genetic research as long as all identifying information is removed from the samples.
38. Recall the experience you had when your child(ren) underwent his/her newborn screening tests. What were your impressions of the procedure? How did you feel about having your child screened? Thought that it was a good thing that the doctors could check for and problems. I am very glad the screening is done routinely. I know that many babies lives have been saved because of the tests now performed. I would want to know if they had something wrong, other than wait years and not know what was wrong with my child. It made me feel comfortable knowing that my child could have that screening done just in case there was a problem that could have been addressed. think it is a good thing to have the screening done. Sad because the child cry's but is good for the baby to determine health issue. I felt bad for him that they made more than one pin prick to obtain the blood sample needed. I know it is good but I hate the newborn crying and trying to comfort them. With my first child it was difficult because everything was new. However, once they told me the purpose I realized that it would be ok because the pin prick is just a short moment of pain that could possibly save a lot of heart ache and fear for the years to come. With my other children that came later I knew that it was procedure and it was easier, (however it is never easy to have your new born pricked), to go through the process. I thought it was fine, it didn't ever bother me. I think that anything to do to improve or help something is good. I only remember the hearing screen, but know that other screening happened too, like for PKU, etc. I felt fabulous about having them have the screening. I feel it is important for all children to be screened since it is a way to identify early any possible problems. It isn't fun to watch the doctor take blood from a tiny baby, but it is necessary.
Editor's Notes
Newborn Screening is a special blood test done on each Utah baby. It is specifically designed to reduce the occurrence of diseases or conditions that alter health and quality of life (morbidity) and increase the risk of death (mortality) due to certain metabolic, endocrine, and hematological disorders by identifying the disorder prior to the onset of symptoms.This allows treatment to begin before clinical symptoms of morbidity (i.e. permanent brain damage, growth retardation, sepsis, or severe anemia) or death can occur in the newborn.Utah collects two newborn screening specimens (formerly called the PKU test) which test for 37 disorders. The first screen is usually done between 48 hours and 5 days of life, or right before discharge from the hospital. The second screen is done between 7 and 28 days of age, usually at the two week well-child check with the baby's pediatrician. Identifying and treating infants with these disorders early can help ensure a long, healthy life, so it is important to get these tests done correctly and on time.
PKU (phenylketonuria)Babies with this disorder cannot process a substance called phenylalanine that is found in almost all food. Without treatment, phenylalanine builds up in the bloodstream and causes brain damage and mental retardation. When PKU is detected early, mental retardation can be prevented by feeding the child a special diet. All states and U.S. territories screen for PKU.
Recent advances in technology and clinical intervention have enabled clinical laboratories providing newborn screening services to improve testing and to expand testing to include additional treatable disorders. One of the major technical advances in newborn screening is the use of an analytical instrument known as a tandem mass spectrometer. Research and development in the newborn screening applications of tandem mass spectrometry were started in the early 1990's and they continue today. More than 20 disorders of body chemistry can be detected in a single analysis of a small blood sample that is collected on a special paper during the first few days of life.
What is maple syrup urine disease?Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. Beginning in early infancy, this condition is characterized by poor feeding, vomiting, lack of energy (lethargy), seizures, and developmental delay. The urine of affected infants has a distinctive sweet odor, much like burned caramel, that gives the condition its name. Maple syrup urine disease can be life-threatening if untreated.Maple syrup urine disease can be classified by its pattern of signs and symptoms or by its genetic cause. The most common and most severe form of the disease is the classic type, which appears soon after birth. Variant forms of the disorder appear later in infancy or childhood and are typically milder, but still involve mental and physical retardation if not treated.How common is maple syrup urine disease?Maple syrup urine disease affects an estimated 1 in 185,000 infants worldwide. The disorder occurs much more frequently in the Old Order Mennonite population, in which the incidence is about 1 in 358 newborns.
Congenital hypothyroidism occurs in 1:3,00 births, more common than some of these others that we have talked about. This means that a lot of people have congenital hypothyroidism.Congenital hypothyroidism is caused when the body does not make thyroxine. Thyroxine is a hormone madeby the thyroid gland. Thyroxine is necessary for the development of the brain in infants. If babies are nottreated with medication their brain will not develop and they will have mental retardation.Newborns with congenital hypothyroidism often appear completely normal up to three months of age. Yourbaby had a newborn screening test to check for congenital hypothyroidism. The screening test allowshypothyroidism to be discovered before symptoms appear. When congenital hypothyroid is detected earlyand treated with a hormone replacement medication, babies with congenital hypothyroidism grow and havenormalintelligence.Most of the time you cannot tell an infant has a problem. Infants with congenital hypothyroidism often lookhealthy. Some infants with congenital hypothyroidism may have one or more of these signs: a largefontanelle, or soft spot, a large tongue or a hoarse cry. These infants may feel cold and have a hard timestaying warm, be very sleepy and hard to wake up. They may have problems with jaundice, or being yellow.They may not eat well or have a hard time sucking. Their tummy’s may be bloated, have constipation orvomit frequently. The good news is Congenital Levothyroxine is a synthetic or man made medication that works just like the hormone in ourbodies. Hypothyroidism is easily treated with a daily medication called dies. Your doctor will check yourbaby’s blood level to make sure the medication is working. Because babies are growing, frequent monitoringof blood levels are changes in medication are necessary. Sickle cell disease – causes anemia and other more severe symptoms in some people (acute chest syndrom). The disease occurs in about 1 in every 500 African-American births and 1 in every 1000 to 1400 Hispanic-American births.
Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive systems of about 30,000 children and adults in the United States. A defective gene and its protein product cause the body to make thick, sticky mucus that:clogs the lungs and leads to lung-damaging infections; andblocks the pancreas and stops the body from being able to break down and absorb food CF does not affect many things. It does not cause mental retardation or learning problems. It is not cerebral palsy (sometimes called CP). It does not mean a person will have to use a wheelchair.Babies with CF grow, develop and do what other babies do. Children with CF go to school, play sports and get their driver’s licenses. They can go to college, have successful careers, get married and have children.The most important thing is to work closely with the CF health care professionals at your care center. They will help you develop a plan for your baby’s health. You can learn more about staying healthy with CF — including avoiding germs, eating smart, keeping lungs clear and exercising regularly — on the CF Foundation’s website.back to topWhat therapies are available for my baby?Your baby will need to follow a regular treatment routine to stay healthy and maintain optimal lung function. You can read about CF treatments and therapies so your baby will grow and stay healthy.
Tests are required except for instances where parents refuse on the grounds that they are members of an organized, well specified religious organization whose teachings are contrary to the test being required. So, the tests are required, but there is a religious exemption.
As we have talked about some of these disorders, for some of them there are no treatments. To be able to administer the tests.So part of the debate is: is it worth all of the expense to administer these tests when a lot of the incidences of the disorders are rare, and treatments for some of them don’t even exist.
When a newborn tests positive in infant screening. First of all, … teaching them about the disorders and treatments for the disorders. A second screening
When referring to the accuracy of a medical test, statisticians use the words sensitivity and specificity. Sensitivity refers to the proportion of the times that a test yields true positives. The closer the sensitivity is to 100%, the more likely a positive result actually means that the patient has a disease. Specificity refers to the proportion of the time that a test yields true negatives. The closer the specificity is to 100%, the more likely a negative result means that the patient is truly disease-free.
This table illustrates that out of every 100,000 tests that are done, 502 test positive. Of these 502, 500 are unaffected, meaning that they don’t have the disorders, and only 2 out fo the 502 actually do have the disorders. So, the prevalence of these disorders is …Meaning 100% of the time infants that have these disorders will test positive for them.
So, even though their infant may not have the disorder, just the fact that the first newborn screening test was positive makes them more likely to show thesebahaviors.
Like we talked about right now, newborn screening is mandatory in the state of Utah, unless a parent claims a religious exception. Currently all newborns are screened for sickle cell disease even though only about 1% of the population is at risk. As new tests are developed to test for other disorders, have the safety, the efficiency, and the results of the test been proven?So, should newborns be screened for traits that aren’t relevant now, but could be relevant when they are adults. An example of this could be a gene that is recessive but could affect their later fertility.When, during the first newborn screening test, infants test positive for these things, should parents be given that info then to help them prepare for what could be, or is this just raising undue concern?
So, newborn screening is done for a wide variety of disorders, some of which are very rare, some for which there are treatments available, and for some that are not treatable. There may also be some diseases with high false-positives that can lead to stressful situations for the parents even after they learn that their child really was fine. So, this is an area that is quite complex, and where there are potentially serious implications for the small number of families who end up getting positive test results. In some cases, the benefit might be quite high, because they detect a disease early on and can treat it. In other cases, the benefits may not be so high, because there is no treatment for the disease or because it was a false positive and even though the child is fine, the parents have experienced considerable stress because of the initial false positive results. Our survey results show that there were mixed opinions about the merits of newborn screening. Really, about 91% of the respondents somewhat or strongly agree with that statement.
But ,as we move on to the next question… you see that the results are much more mixed. About half, or 48% strongly or somewhat agree with that statement, and about half or another 48% somewhat disagree or strongly disagree. This may be indicative of the tension that exists between parents wanting to control their children’s health care, and the state intervening, wanting to do what they believe is in the best interest of the child.
Here again, we see very mixed results. About 68% of the respondents strongly or somewhat agree with the statement, while about 24% somewhat or strongly disagree with it. And notice, too, there are some people who may not have thought about this issue too much, the 8% who didn’t have an opinion. Recognize that by saving the blood samples, it would be possible for hospitals and researchers to do further research on the genetic causes of disease which could lead to more screening in the future. So, this is an area where there could be greater benefits, but also greater costs born by families if this were if fact to come to pass.
Finally, we asked you to ask your respondents to I would like you to quickly read through these responses, because I think they do a very nice job of capturing the ambivalence that parents have toward new born screening. In some instances, they feel that it is a good thing, and in other instances, there are numerous parents who have reservations about this mandatory screening. So, this is an area that creates some tension between parents and the state with respect to children’s health care, and we are going to explore those tensions even further in the next lecture which is going to focus on parental rights and children’s health care.
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