OBJECTIVE: Abnormal results of newborn screening for common metabolic diseases are known to create substantial distress for parents. We explored parents' perceptions during diagnostic evaluations for newer disorders that are less well understood.
METHODS: Thirty families completed 48 open-ended interviews before and/or after parents received confirmatory test results for their infants. Qualitative content analysis was used to analyze the data.
RESULTS: Parents were shocked by the notification of the abnormal test result. Their urgent and often frustrating searches for information dominated the early phase of the screening process. Treatment center personnel were mainly informative and reassuring, but waiting for results exacerbated parents' distress. Equivocal results from diagnostic testing created uncertainties for parents regarding their infants' long-term health. After counseling, some parents reported inaccurate ideas about the disorders despite exposure to large amounts of information. Regardless of the challenges and anxieties of the evaluation, nearly every parent thought newborn screening was an important program for infant health.
CONCLUSIONS: The evaluation of a newborn for an abnormal screening result was highly stressful for parents. To help reduce parents' distress, improvements in communications and clinical services are needed. Recommendations of useful Internet sites and discussions of this information may benefit parents. Tailoring counseling to meet the needs of culturally and educationally diverse families is needed. Families and infants with equivocal results are a new group of patients who merit comprehensive clinical follow-up.
- metabolic disorders
- inborn errors of metabolism
- primary health care
- newborn screening
- public health
- qualitative research
WHAT'S KNOWN ON THIS SUBJECT:
The referral and evaluation of an infant for an abnormal newborn screening result is highly distressing for families. Screening for more metabolic disorders has increased infant referrals, but little is known about parents' experiences of expanded screening evaluations.
WHAT THIS STUDY ADDS:
Parents provided a description of the challenges they encountered during the evaluation of their infants. New approaches to care are suggested to help alleviate some of parents' distress. Comprehensive strategies for follow-up are needed for infants with equivocal diagnostic results.
Nearly all of the >4 million infants born in the United States each year will undergo newborn screening tests.1 Statewide newborn screening programs began in the mid-1960s. A limited number of disorders were added over the years until the introduction of tandem mass spectrometry. This technology altered the landscape of screening, extending it to disorders about which little may be known and prognostic communication may have limited evidentiary support.2 In 2010, the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children recommended screening for 30 core disorders, with 26 others detectable through differential diagnosis.3,4 Larger numbers of infants are now referred for screening evaluations, many with false-positive results.5,–,7 This has increased the workloads of clinicians and laboratories,8 and the pace will accelerate as new disorders are added to screening panels.9,–,13 The pathologic significance of some new metabolic conditions, such as short-chain acyl-coenzyme A dehydrogenase deficiency and others, is unclear.14,–,16 Identification of equivocal biochemical findings or genetic variants can complicate the diagnostic process.17,18 These uncertainties pose conundrums to clinicians and parents alike.19
Extensive research has been conducted to examine the technical aspects of expanded screening, but there have been fewer reports on parents' responses to these screening evaluations. Earlier research for common disorders established that parents were shocked by the notification of an abnormal screening result for their infants.20,21 Parents of infants with abnormal cystic fibrosis screening results reported substantial distress while waiting for sweat-test appointments for possible diagnosis.22 This distress often resolved after they received negative results, but some parents were uncertain of the meaning of carrier status for their infants and reproductive implications for themselves.23,–,26 In expanded screening for metabolic disorders, parents of infants with false-positive results reported increased stress and long-lasting concerns for their infants' health,27 but a later study found that these apprehensions did not lead to increased use of health services for infants.28 Parents reported a lack of information on what to expect if their infant was referred for abnormal results and suggested that more education about screening was needed.29 Most previous studies of parents' responses to screening relied on their retrospective recall of screening events, sometimes months and years after the screening evaluations took place. The purpose of the present qualitative study was to create a description of parents' experiences of their infants' evaluations for rare metabolic disorders as they unfolded in real time.
The Newborn Screening Process
Different states and regions use a variety of protocols in administering newborn screening programs.30 In New York, universal newborn screening is mandatory; however, parents may refuse on religious grounds.31 Screening samples are collected from infants in the first 24 to 48 hours of life and sent to the state laboratory for analysis. Public health law mandates that parents are informed of the purpose of newborn screening, and parent education is recognized as an important part of the process.31 For the metabolic treatment centers selected for our study, the state laboratories notified centers and primary providers of critically abnormal values by telephone and faxed them the name of the disorder, the abnormal values, and family contact information. Members of the treatment center team and the primary providers often discussed cases by telephone before contacting families, but the primary providers typically made the first call to parents to discuss the results. Infants were evaluated at the treatment centers within 1 week of the notification or underwent an emergent evaluation if ill or if they screened positive for severe disorders. Blood and urine samples for confirmatory diagnostic testing were obtained from the infants after the treatment center visit. Depending on the type of testing, results were available from 24 hours to 4 weeks after the evaluation.
Design, Sample, and Recruitment
This study used a longitudinal qualitative descriptive design. After approval from the University of Rochester Research Subjects Review Board, English-speaking parents of healthy infants referred for evaluation of abnormal metabolic screening results were approached for the study at 4 treatment centers located in upstate and downstate New York between September 2008 and March 2010. At the conclusion of the treatment center appointment, clinic personnel asked parents if they would be interested in speaking to a researcher about their screening experiences. Potential participants gave permission to be contacted or spoke to the researcher after their appointment (Fig 1). Parents were excluded if they had previous experience with abnormal newborn screening results, had family members with metabolic disorders, or whose newborns were preterm or ill. Maximum variation sampling (intentional search for widely varied respondents) was used to recruit parents whose diverse ethnic, educational, and employment backgrounds might yield distinctive experiences of the phenomenon.32,33
Thirty families (44 parents) of infants referred for 12 of the newer metabolic disorders from the expanded screening panel34 participated in the study. At last study contact, 9 infants had confirmed positive diagnoses and 8 infants received negative results. Thirteen infants had equivocal confirmatory results. Equivocal results included persistently abnormal biochemical metabolites (eg, prolonged elevated tyrosine), molecular variants of uncertain significance (eg, isovaleric acidemia “newborn screening” variant), and enzyme deficiencies of uncertain clinical risk (eg, galactocerebrosidase deficiency [Krabbe disease]).
After providing informed consent, 14 couples and 16 solo mothers were interviewed. Forty-eight semistructured open-ended interviews lasting up to 1 hour were conducted by telephone (43%) or in person (57%), according to parent preference, in which parents were asked to describe their reactions to the screening referral and evaluation (Table 1). The first interview was conducted 1 to 2 weeks after infants were evaluated at the treatment centers but before parents received results of confirmatory testing. The second interview was conducted up to 4 weeks after receiving confirmatory results. If confirmatory results were returned to parents before the first interview could be conducted, a single comprehensive interview was performed (Table 2). An equal number of parents of infants from each of the diagnostic categories (positive, negative, or equivocal) participated in single interviews. A total of 48 interviews were completed. Each parent received a $10 gift card per interview. All interviews were audiorecorded with a digital recorder and transcribed by Dr DeLuca. Transcripts were reviewed for accuracy and loaded into ATLAS.ti 5.0 (Scientific Software Development GmbH, Berlin, Germany) for data management.35
Qualitative content analysis was used to develop a clinically useful summary of parents' reports.36 Blocks of interview text were labeled by codes to characterize parents' statements. When this process was complete, the codes were merged into larger category labels that encapsulated the sample's shared responses to salient screening events. Participant enrollment continued until the saturation of data in the key categories was achieved.37 Emblematic verbatim statements from parents were identified and used to represent parents' characteristic responses to screening evaluation processes.
The qualitative validity38 of the findings was tested in several ways. Repeated contact through 2 interviews (60% of the sample) yielded rich data as parents became more comfortable with the researcher. The dependability of analytic decisions was strengthened by reviewing emerging results regularly with experienced peers. Preliminary study results were endorsed when presented to 5 newborn screening parents, 2 metabolic providers and 1 pediatric provider, and at 2 national conferences.
Table 3 describes the characteristics of the parent participants in the study. Fifty-seven percent of parents were married, and fathers represented 32% of the sample. The majority of mothers (67%) were first-time parents. Non-white parents comprised 27% of the sample, and 7% claimed Hispanic ancestry. Education ranged from non–high school graduates to doctorate degrees; the largest group (30%) had 2- or 4-year college degrees. Twenty-three percent of parents were employed in science or health care professions.
Parent Response to the Initial Call
Parents spoke of their first response to the call of the positive result as a feeling of shock, as if a death occurred: “I couldn't even comprehend anything that she said. I couldn't even function at the moment she was telling me.” According to another parent: “I was shocked, I hadn't heard of anything like this.” Only 16% of parents stated they had adequate knowledge of newborn screening before the referral of their infants. Many parents had not heard of newborn screening, or if they knew the term, they did not know its meaning. Parents often did not remember receiving screening information or teaching before the referral or only vaguely recalled the heel-stick procedure.
Parents' first concern was to understand the metabolic disorder in question, but nearly 100% had never heard of the disorder before. Many parents felt that their providers did not have sufficient information for them at the time of the initial call: “She [doctor] made it very clear she was not familiar with this condition at all. She wasn't really sure what it was or anything.” Few parents felt that their providers were sufficiently knowledgeable about the disorders to adequately explain the conditions. Providers often deferred to the metabolic treatment center to provide detailed information to parents. Parents wanted their infants evaluated at the treatment centers as soon as possible, but appointment times could be several days to 1 week after the notification.
Some parents turned to the Internet for information: “We were furiously looking on the Internet trying to figure out what this is!” Some parents were cautioned by providers not to access the Internet because the information could be upsetting. Most parents accessed it anyway, and many were frightened by what they found. “You look on the Internet and look up the disease and that was just scary!” Parents were dismayed by the complexity of medical terms and lack of treatment information. Only 1 of 4 parents, mainly those with higher education, were satisfied with their search results. Several parents accessed primary research articles, and 1 parent contacted a nationally recognized researcher. A few parents did not access the Internet: “Sometimes too much information can be hurtful in a sense. We just didn't want to expose ourselves.”
Metabolic Treatment Center Visit
Parents were anxious before the treatment center visit, but many were relieved by it. One parent said: “Her [doctor's] expertise in dealing with [the disorder] over the years really set our hearts and minds at ease.” According to another parent: “It actually helped us a lot because it helped us understand.” Most parents valued the ample time for questions and discussion. Some parents appreciated technical discussions about genes and metabolites: “We felt like we had a better understanding. We knew the effects, if he had [disorder]. We just didn't know what the treatment was like. She was really good about answering our questions about the treatment.”
Other parents found the clinicians' personal qualities important: “They treated us like humans, not just as a number, and talked to us in ways we would understand.” In a few instances, clinicians indicated to parents it was unlikely the infant was affected, which offered them relief even though they had to wait for confirmatory results.
Some parents were uncomfortable or overwhelmed by information in the visit. Two mothers had postoperative pain but did not want to shift the focus of the visit from their infants to themselves. Several parents of infants with likely positive diagnoses, although satisfied with the visits overall, felt the clinicians lacked empathy during the discussions: “She was presenting the facts. She was trying to get us to understand, but some of them were presented in a way that had a little scare tactic to it. I don't think she meant to do it that way, just the way it came across.”
Parents who were young, ethnic minorities, or had limited education described more difficulty in their interactions with the metabolic clinic staff: “Because the way they were talking at first, they said he got it, and they were talking like he had it … how can he have it if the tests not been run yet?” Also, “It was kind of like ‘wham bam, thank you mam.’ Information wasn't provided. Like they came and got information from us but kind of like returned and never gave it back.”
Waiting for Test Results
Waiting for confirmatory results was highly stressful. Many parents were consumed by thoughts about the disorder: “It is always in the back of my mind … eating me from the inside out.” Another stated: “It's kind of just like a waiting game now, wondering if, or what if something happens.” A number of parents were instructed by metabolic clinic personnel to monitor infants for symptoms such as diarrhea or lethargy, which could indicate metabolic decompensation. This created additional uncertainty for new parents. Experienced parents also felt insecure and second-guessed their abilities to recognize illness symptoms: “It was hard for me to determine if it was a throw up or a spit up. Now I feel like I want to wake him up and make sure he isn't lethargic. I was just nervous, am I going to know what it looks like for a baby to be lethargic versus just sleeping all the time, you know, and also the throwing up thing.”
Parents of infants with expected positive diagnoses had frequent contact by telephone with the treatment center during this period, but other parents did not speak to treatment center personnel unless they called to report symptoms: “Because we know as parents that doctors are busy, nurses are busy. We feel like we are burdening you, bothering you during the day.”
Parents received the news of confirmatory results by telephone from the treatment center. Parents of infants with negative results were ecstatic: “It's like you were locked in somewhere forever and now you are free!” Parents of affected infants were resigned to the diagnosis: “I did wish it came back that he was negative for it, but it's the truth, so I sort of have to live with that.”
Parents of infants with equivocal results were relieved that a severe disorder was not diagnosed but were unsure of the implications of the findings and some worried about potential long-term health issues for their infants: “Because it seems like no matter how much testing they do, something doesn't show up or something new shows up, you know it's not just a solid thing.” Another stated: “I felt a little confused, they don't really know a whole lot about [the disorder], I guess because they kind of left it. Well of all the people they've researched nothing has happened but something could happen. So it kind of leaves it wide open. I wonder if something is going to happen later on.”
These infants would be followed up by the treatment centers for unspecified periods of time for ongoing monitoring and additional testing to clarify the infant's risk or need for treatment or until the diagnosis could be ruled out.
Parents' Views on Newborn Screening
Despite the stress of the screening evaluation process, most parents expressed unshakable faith in the merits of newborn screening: “It is probably one of the best things that could be done for the health of a child!” Almost every parent in the study believed that newborn screening was an important program that preserved the health of infants through early identification and treatment of disorders: “You know, some people playing devil's advocate could say, ‘Well, now you've gone through all this and it came to nothing, was it worth it?’ I would say 100 times, yes, because I would always err on the side of being cautious, and I would want to know about something before it happened.”
Three parents were less enthusiastic about screening. One couple objected to screening for rare disorders about which little was known. A parent of an infant with a disorder that might not be clinically significant was distraught over her son's diagnosis. Living with a potential illness, she explained: “Me, I want him to have a normal life. Right now he isn't getting it.”
At the time of the final interview, several parents from each diagnostic outcome group—particularly those who were younger, with less formal education, or were underserved minorities—had inaccurate information about the disorder or results. Most parents understood the concept of recessive inheritance, but a few thought the disorders were inherited through only 1 parent. Two parents believed the disorder stemmed from problems of digestion. Several parents of infants with negative results thought there might be long-term health implications for their infants.
Only a limited number of parents in our study reported having adequate understanding of newborn screening before the referral of their infants, which was consistent with previous research.39,40 Reasonable knowledge of the screening process is important for the ethical treatment of families in mandatory screening programs. It may also help reduce parents' anxieties if they know what to expect if their infants are referred for evaluation. Screening programs recommend that screening education occurs before delivery41 and parents preferred this,39 but some parents felt that education could be provided in the nursery setting if timed for when they were receptive to teaching.40 Diverse health service providers are charged with educating parents about screening, but studies indicate that providers were less likely to discuss screening with parents if they did not see it as part of their professional responsibilities or if they were less confident of their screening knowledge.42,43 Providing education about newborn screening in high school health and science classes could be a way to introduce the concept of screening to young persons and future parents.
When parents were notified about the abnormality, many felt their providers lacked sufficient information and knowledge about the disorder. Previous literature reported that primary providers had limited knowledge of the screening disorders44 and discomfort discussing results with parents due to lack of knowledge of the newer conditions.45 Discussing difficult news is challenging46,47 and may be even more daunting when information is delivered by telephone.48 Training providers to increase their confidence in communicating difficult news may be helpful for these discussions. Alternative models for delivering initial screening news could be explored to include conference or tandem telephone calls from primary providers and metabolic specialists to provide parents with expert information and support at the time of the referral. Future studies might determine if programs providing pediatricians and parents with information by fax or e-mail can improve knowledge deficits and help decrease parents' distress.
The metabolic clinic visit was beneficial for most parents in the study but less so for younger, disadvantaged, and nonwhite parents. From the perspective of these parents, providers did not connect with them and the counseling did not fit their information needs. Cultural orientation, education attainment, and historical influences may affect acceptance and trust of genetically oriented medical information.49 Strategies for culturally sensitive, educationally appropriate counseling are needed. Parents of infants who were likely to have positive test results perceived providers as insensitive during discussions of screening results. This was echoed in studies of parents' experiences of abnormal prenatal ultrasound counseling,50,51 during which some parents felt distanced from providers if they focused on the medical management of the fetus without addressing parents' needs.51
Parents accessed the Internet but were warned by providers that it could be disturbing. It was not known if parents brought information back to providers for discussion. The Internet is increasingly used for health information,52 but studies indicate that patients may be uneasy discussing Internet information with providers.53,54 Guiding parents to appropriate Web sites and inquiring about parental Internet searches could be useful in assessing parents' knowledge, fostering discussion, and correcting potential inaccuracies in Internet information.
The magnitude of parents' distress while waiting for infants' confirmatory test results should not be underestimated. Every means should be sought for a quick return of results. Parents, including experienced parents, had difficulty distinguishing metabolic decompensation from normal newborn behaviors. Parents require sufficient instruction to develop skills to assess their infants for these symptoms. Telephone follow-up with all parents during the waiting period provides an opportunity to assess infants' well-being and address potential educational needs.
As in other screening studies, some parents did not retain accurate information about the disorders from their discussions with specialty providers, but it was surprising it occurred so soon after they received extensive counseling. Reinforcing parents' knowledge at case closure and correcting misinformation can help guarantee that parents have adequate understanding of the disorder and its implications. Written information can be provided for parents' reference.
In previous studies of public opinions of newborn screening programs, individuals approved of screening for well-characterized, treatable disorders. Some also supported screening of conditions with less definitive treatments, as well as late-onset and untreatable disorders.55,–,57 The majority of parents in the current study approved of expanded newborn screening. However, screening for less well-characterized disorders, about which little is known or that have treatments of limited efficacy, may intensify parents' distress. Rigorous evaluation of candidate disorders for screening panels, as well as carefully conducted outcomes studies for disorders currently screened for but that are of uncertain significance, can help identify disorders that are unsuitable or warrant removal from newborn screening panels.4,14,58
Parents of infants with equivocal results were unsure of the implications of these findings and worried about the health of their infants. Similarly, in a study of parents and equivocal cystic fibrosis results, diagnostic uncertainties catalyzed long-term worries about their infants' health.59 However, it was also noted that parents can adjust to these uncertainties over time, especially if infants continue to grow and develop normally.19,59 The problems of disorders of uncertain significance and of equivocal diagnostic testing might be addressed, at least in part, by some of the current regional and nationally funded projects for long-term follow-up registries.60 Pooling of clinical data can help in understanding the implications of equivocal and variant findings for infants' health.61,62 These data may contribute to the development of consensus practice guidelines, such as those established by the Cystic Fibrosis Foundation for intermediate results.63 Understanding the challenges and issues these families face should be considered when planning for long-term follow-up of their infants.
Our study has several potential limitations. Interviews were restricted to parents from selected treatment centers in New York. Screening practices differ in other states and regions. Sample size was adequate for qualitative inquiry, but the small numbers of parents in diagnostic or demographic subgroups precluded finer comparisons. Infants with equivocal results comprised the largest group in the study. Equivocal results are not routinely tracked at this stage of the screening process in New York and other state newborn screening programs. Whether this high number represented sampling variation or was due to specifics of the screening program is unclear. A recruitment bias may account for these higher numbers despite measures to recruit parents without regard to potential infant diagnoses and before confirmatory results were known in most cases. As in many studies, participants had high education levels on average, and in this sample more had health care and science backgrounds than the general population. Nonetheless, the distress of these parents was considerable despite their potentially greater comprehension of the medical situation.
The evaluation of a newborn for an abnormal screening result was highly stressful for parents. Several areas for future clinical research were identified. Improving parents' exposure to and their retention of newborn screening education information is needed. Different methods for notifying parents of abnormal screening results could be examined to determine the effects on parents' distress. Studies are needed that explore provider communications and counseling of culturally and educationally diverse parents. Examining the long-term health of infants with equivocal/variant results and researching the concerns of these parents are essential. As newborn screening continues to expand and the numbers of families entering the diagnostic evaluation process grows, the care families receive must be critically examined and continually improved.
This study was funded in part by a research grant from the International Society of Nurses in Genetics.
We thank the metabolic centers and staff for assistance with recruitment. We especially thank participating newborn screening parents who were so generous with their thoughts and time.
- Accepted March 16, 2011.
- Address correspondence to Jane M. DeLuca, PhD, RN, CPNP, University of Rochester, School of Nursing, 601 Elmwood Ave, Box SON, Rochester, NY 14642. E-mail:
Dr DeLuca conceived the study design, collected the data, and analyzed and interpreted the study data and drafted, revised, and approved the final version of the article; Dr Kearney co-conceived the study design and analyzed and interpreted the study data, contributed content to the draft version, and critiqued and approved the final version of the article; Dr Norton contributed to the study design and interpretation of study data, and contributed content to the draft version, and critiqued and approved the final version for publication; and Dr Arnold contributed to data collection and analysis and critiqued and approved the final version for publication.
FINANCIAL DISCLOSURE: The authors have indicated they have no financial relationships relevant to this article to disclose.
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- Copyright © 2011 by the American Academy of Pediatrics