Background. The psychosocial effects on parents of infants with abnormal results in cystic fibrosis (CF) newborn screening (NBS) that uses genetic testing remain unclear.
Methods. Twenty-eight individuals representing 14 families participated in grounded theory interviews ∼6 months after their child’s positive NBS results for CF. Participants also completed the Center for Epidemiologic Studies Depression Scales (CES-D) at their infant’s sweat-test appointment (n = 51) and/or ∼6 months after the sweat test (n = 35).
Results. Most parents experienced high levels of emotional distress during their wait for the sweat-test appointment (CES-D score, mean ± SD: 16.5 ± 6.7; 43.1% in the clinical range; median wait: 7 days; range: 3–35 days). CES-D scores of these parents were also significantly higher than those of comparison parents. Interviews showed that parental cognitive uncertainty and emotional distress were influenced by the parents’ prior knowledge of NBS, CF, and their carrier status; parents’ adjustment to their new baby; and the physicians’ approach to informing parents. Parents’ coping strategies involved requesting a sweat test as soon as possible, searching for information, assessing the infant’s risk/health, seeking support, praying, or not talking with others.
Conclusions. The waiting period from notification regarding positive NBS results to diagnostic test results can be psychologically distressing to parents, causing depressive symptoms that vary depending on their perceptions about the likelihood that their infant has CF. Implications for future research examining psychosocial interventions for NBS are discussed.
Since the inception of screening programs in the 1960s, there have been reports of adverse psychosocial events associated with the initial implementation of screening. Negative consequences have been attributed generally to insufficient information about the screening process and confusion about test results.1 When phenylketonuria screening was implemented, parents reported symptoms of acute and chronic anxiety associated with doubts about their infants’ false-positive screening test results.2 As mass screening for sickle cell anemia began in the 1970s, much confusion was associated with carrying the sickle cell trait. Parents attributed common childhood complaints to the presence of this trait, unnecessarily restricting their children’s behavior and altering their children’s dietary intake.3 Parents of infants with false-positive results for hypothyroidism described strong emotional responses to the testing process, including feelings of shock and sleep disturbances, as well as feeding problems among their infants.4 A screening program designed to detect congenital cardiac disease produced an epidemic of nondisease symptoms among healthy children, which were described by the investigators as more severe than the cardiac disorders.5 When newborn screening (NBS) for cystic fibrosis (CF) was first implemented, parents of infants with false-positive NBS results were found to have knowledge deficits about the overall NBS program, confusion about test results, and short-term emotional distress.6–8 More recently, genetic screening of newborns to identify those at risk for diabetes mellitus was associated with clinically significant levels of anxiety and lifestyle changes among mothers of at-risk infants,9 and expanded NBS for infants with metabolic disorders was related to increased maternal stress and increased hospitalization for infants with false-positive results.10 Although previous research focused on parents’ knowledge about NBS test results and related emotional distress, little is known about parents’ perceptions during the waiting period before the diagnostic testing, when their child’s health status is uncertain.
CF is the most common life-threatening, autosomal, genetic disease in the United States. Although CF is most common in the white population, the disease has been found in most racial/ethnic groups. The occurrence is approximately 1 case per 3400 European American births, 1 case per 8500 Hispanic American births, 1 case per 15000 African American births, and 1 case per 32000 Asian American births.11,12 CF affects ∼30000 children and adults in the United States and ∼1000 individuals are newly diagnosed each year.13 Approximately 12 million people (∼1 in 30) in the United States carry 1 CF gene mutation.14 Although advances in research and treatment in the past 30 years have improved the longevity and quality of life for individuals with CF, the diagnosis still carries a reduced life expectancy, with an estimated mean survival age of 33.4 years.15
One of the criteria for including a disorder in NBS is that there is evidence of clinical benefit from early treatment.16 Although there has been more than a decade of experience with CF NBS in France, Australia, and several states in the United States,17 whether early intervention for newborns with CF provides clear clinical benefit remains the subject of ongoing debate.18 Although most of these arguments focus on the physiologic outcomes of infants with CF, the psychosocial benefits and risks to families with infants who have false-positive results remain far less understood.
The primary purpose of this research was to gain a better understanding of parents’ phenomenologic experience of the CF NBS process, so that we can develop clinical systems of care that are more responsive to families’ psychosocial needs. On the basis of a preliminary analysis of the qualitative interview data, a secondary goal was added, ie, to quantify the level of parental distress reported in the interviews. For this goal, we hypothesized that (1) waiting parents would experience higher levels of distress than a comparison group of parents whose infants had normal NBS results, (2) parental distress would decrease after a negative sweat test, and (3) a quantitative measure of distress would be correlated with the duration of waiting between learning of the positive NBS results and completion of the sweat-test process. The results presented in this report represent one component of a larger project examining the short- and long-term psychosocial impact of NBS for CF.
The Wisconsin NBS program, derived from the Wisconsin CF Neonatal Screening Project,19 is 1 of 11 programs in the United States that conducts statewide screening for CF.20 In Wisconsin, CF is 1 of 26 disorders for which infants are routinely screened, through the analysis of blood obtained from the infant through a heel prick in the first few days of life. As illustrated in Fig 1, when the state laboratory identifies an infant with positive CF NBS results, the primary care physician is notified. When 1 CF transmembrane conductance regulator (CFTR) mutation is identified, a report of the abnormal results is faxed to the physician, with an informational letter for the physician to give to the parents. The parent letter contains a list of CF Foundation–approved sweat tests in Wisconsin and states, “Although a very small percentage of infants who have an initial positive newborn screen actually have CF, your infant needs to have a simple test, called a sweat test, to be sure that s/he does not have CF.” When 2 CFTR mutations are identified, the state laboratory communicates the results to the physician by telephone, in addition to the written report, and recommends a sweat test to confirm the results. In either case (ie, 1 mutation or 2), the primary care physician then notifies the parents and advises them to contact the CF center closest to them to schedule a sweat test (G. Hoffman, BS, Wisconsin Newborn Screening Program, State Laboratory of Hygiene [Madison, WI], written communication, 2005).
At the CF center from which the families in this study were recruited, parents receive genetic counseling from a genetic counselor or pediatric nurse practitioner while awaiting the sweat-test results. This clinician also informs parents about the sweat-test results. Parents of infants with normal sweat-test results are referred back to their primary care providers, and they receive a follow-up letter explaining the content of the genetic counseling. Parents of infants with borderline results are informed of the inconclusive nature of the results. These infants undergo repeat sweat testing and/or additional genetic testing, as well as an examination by a CF center physician to assess whether the infant has CF. Parents of infants who have abnormal sweat-test results and thus are diagnosed as having CF are encouraged to receive specialty care from a CF center as well as primary care from their local physician.
Families were eligible to participate in this study if they had infants identified through the Wisconsin NBS program as having positive CF NBS results. Families were recruited from a CF center when they arrived for their infant’s diagnostic sweat-test appointment. By that time, parents had learned about the abnormal NBS results from their infant’s primary care provider. Families whose infants were healthy and had normal NBS results were recruited to participate as a comparison group. These families were recruited from a primary care pediatric clinic when they arrived for their infants’ routine, 2-week, health appointment. At the beginning of the appointment, a clinic and/or research staff person from each clinic explained the study to the parents, answered their questions, and obtained written consent.
Recruitment for this study occurred between April 2002 and August 2004. The first 14 families in the abnormal CF NBS group participated in the qualitative interviews. Consistent with the grounded theory method, when the analysis of the interview data showed no new themes, interviewing was discontinued. However, we continued to obtain before and after Center for Epidemiological Studies Depression Scales (CES-D) data for a total of 29 families in the positive NBS group, to ensure adequate statistical power to detect differences between the parents of infants with positive NBS results and the parents of infants with normal NBS results. This comparison group was composed of 18 families whose infants had normal NBS results. Parents completed the CES-D when their infants were between 2.3 and 13.6 weeks of age (median: 4.8 weeks). Table 1 shows the demographic distribution of the comparison group and the abnormal NBS results groups (ie, interview and CES-D participants).
Fourteen of the families with abnormal CF NBS results were interviewed in their homes ∼6 months after the infants’ sweat tests. Among the families interviewed, 12 infants had normal sweat-test results; therefore, they were considered to have false-positive NBS results. Of the 2 infants who had nonnormal results, 1 infant exhibited borderline results (between normal and abnormal sweat chloride levels) in 2 consecutive sweat tests and underwent genetic testing for additional CFTR alleles, which suggested that the child was a heterozygote carrier and therefore had false-positive NBS results. The other infant was diagnosed as having CF, as the result of abnormally elevated chloride levels in the sweat test.
The study initially was designed to use qualitative parent interviews performed ∼6 months after sweat testing to explore parents’ experiences during the waiting period between learning of the abnormal CF NBS results and receiving definitive sweat-test results. However, data obtained from the first 3 interviews showed that parents recalled experiencing significant emotional distress while awaiting the sweat-test appointment. Therefore, the study was modified to include the CES-D, a validated quantitative instrument, to measure parents’ level of distress both at the time of the sweat test and at the 6-month interview. The University of Wisconsin Health Sciences institutional review board approved this study.
Qualitative Parent Interviews
The grounded theory method was used to develop a theory and to generate hypotheses about parents’ experiences with the NBS process, their reactions to the test results, and the meaning they ascribed to the results. Grounded theory combines inductive and deductive analyses as an interpretive research method based on the social psychology theory of symbolic interactionism.21 Data consisted of transcribed, audiotape-recorded interviews, with all identifiers edited from the written text. Mothers and fathers were interviewed together in their homes by the principal investigator or a research assistant, who began with unstructured open-ended questions (eg, how did you learn about your infants’ NBS results?) that became more focused as themes were identified. Following the procedures outlined by Bowers,22 Chenitz and Swanson,23 and Strauss,24 data were analyzed by a research team composed of method experts who performed in-depth, line-by-line coding of the themes identified in the transcripts. Information was grouped into categories and labeled with a process called theoretical coding. Categories were “grounded” in the participants’ words. New data were compared with existing data. Central dimensions were identified and relationships were delineated to form a unified theory describing the factors that might contribute to parents’ experiences with the NBS process. After 14 families were interviewed, the data became saturated, with no new themes emerging. Therefore, the interviewing process was discontinued. However, the quantitative data collection continued, to attain sufficient numbers for statistical analyses testing the hypotheses derived from the qualitative interviews.
The CES-D25 is designed to assess symptoms of emotional distress that may be associated with depression in the general population. This 20-item self-report instrument contains items derived from previously validated assessment measures, such as the Beck Depression Inventory and the Zung Self-Rating Depression Scale. Items measure the frequency of affective, psychomotor, interpersonal, and somatic symptoms of depression experienced during the past week (ranging from 0, “rarely or not at all,” to 3, “most of the time”). Total scores range from 0 to 60. Scores of ≥16 suggest depressive symptoms severe enough to warrant additional evaluation and possibly treatment. The CES-D has good internal consistency, with average α values of .86 for the general population and .91 for a clinical sample. The test-retest reliability is .54. The CES-D correlates well with other depression measures, such as the Beck Depression Inventory and the Zung Self-Rating Depression Scale (r = 0.81 and 0.90, respectively), and more moderately with interview ratings (r = 0.46–0.53).26 Significant life events among those in the normative sample were associated with the following respective mean CES-D scores: marriage, 7.48; vacation, 7.95; illness/injury, 11.20; divorce, 11.27; separation, 16.83; death of spouse, 19.13.25
The CES-D instructions were modified slightly for its initial use in this study. The original instructions read, “Circle the number for each statement which best describes how often you felt or behaved this way during the last week”; they were revised to state, “since you learned about your child’s newborn screening test results.” Another question was added to document the length of wait from the news of the abnormal NBS results to the sweat test. The modified CES-D was administered when the parents first arrived for the sweat-test appointment (before they met with the genetics counselor or pediatric nurse practitioner), and the unmodified version was administered at the time of the follow-up interview. Participants in the comparison group completed the unmodified CES-D after their 2-week well-child appointment.
CES-D scores, wait-time data, and demographic information were analyzed with Fisher’s exact test, 2-sample t test, signed-rank test, and Spearman’s rank correlation. All tests were 2-tailed, and the type I error rate was held at .05. Analyses were performed with SAS 8.2 (SAS Institute,, Cary, NC).
Twenty-eight members of 14 families participated in the interview phase of this study, 51 members of 29 families of infants with abnormal NBS results participated in the CES-D assessments, and 35 members of 18 families of children with normal NBS results participated in the comparison group CES-D assessments. Demographic characteristics of each group are presented in Table 1. The only difference between CES-D groups was the age of the infants, with infants in the comparison group being an average of 15 days older than those in the abnormal NBS group at the time of the sweat test (P < .01). However, because the Spearman correlations between infant age and CES-D scores for mothers (r = −0.14; P = .57) and fathers (r = 0.18; P = .50) in the comparison group were not significant, it is likely that these estimates provide a valid comparison sample for the parents of infants with abnormal NBS results.
Qualitative Interview Analyses
We developed a theoretical framework to depict parents’ experience of NBS for CF based on grounded theory analysis of the parent interviews. As shown in Fig 2, we theorized that (1) certain contextual factors influence how parents react when they learn of their infant’s abnormal NBS results, (2) most parents experience intense reactions to this news, (3) parents invoke a range of coping strategies during their wait for a diagnostic sweat test, and, (4) even with coping strategies, most parents continue to have intense reactions to the NBS results during the time of waiting. Each of these sections is explained in greater detail; Tables 2 to 4 provide sample statements from the interviews, illustrating the framework.
The interaction of 3 contextual factors set the stage for how parents reacted to the news of abnormal NBS results for CF: (1) parents’ prior knowledge about CF, NBS, and carrier status, (2) parents’ adjustment to their new infant, and (3) the physician’s method of informing the families.
Parents’ Prior Knowledge
Parents’ depth of knowledge about NBS and about CF influenced their reaction to the NBS results. The shocked response of most parents seemed to stem from their general lack of knowledge about the Wisconsin NBS program. Most parents possessed only a vague understanding that “some tests” were done when their infants were hospitalized at birth. These parents had even less knowledge about which tests were performed. Many reported that they were not present when the blood specimen was obtained and that they learned about it because they found a bandage on the infant’s heel. Although most mothers remembered receiving a NBS brochure at the time of their infants’ births, few had read it. Several parents said they wished they had received more information about NBS before their child was born or at the time the blood sample was taken.
The intensity of parents’ initial reactions seemed to be compounded by their level of knowledge regarding CF. Except for a family that had relatives with CF and a few parents who worked in health-related fields, the parents in this study had never heard of cystic fibrosis. Several parents explained that the name “cystic fibrosis” sounded like a minor condition characterized by cysts. These parents seemed less distressed about the news. In contrast, having some prior knowledge about CF was not always comforting. The few parents who had heard of CF were aware of the shortened life span associated with CF, and this knowledge added to their emotional distress, except in the case of 1 extremely knowledgeable family. Specifically, this family had an in-depth understanding of the symptoms, course, and prognosis of CF because the woman had relatives with CF. This family history prompted the couple to undergo prenatal genetic testing for CF. Therefore, they knew that she was a carrier and he was not a carrier for the CFTR alleles included in their testing. They also understood that there was still a possibility that the father could be a CF carrier because their prenatal tests did not include all potential CFTR mutations; consequently, their child could have CF. However, they believed that the probability of their child having CF was low, because the chances of the father being a carrier were low, and their child seemed to be “growing off the charts.” In addition, this couple had a close relative who performed sweat tests; therefore, they were well aware of the procedure and its implications. The combination of a healthy child, knowledge about CF, the sweat-testing procedures, and prenatal testing resulted in relatively little distress or uncertainty for this family.
Adjustment to the New Infant
Parental reactions to the NBS results seemed to be amplified as a consequence of the “stressful” timing in the lives of these families. All were still adjusting to having a new member in their family, many were first-time parents, with insecurities about their parenting capacities, and most reported experiencing some degree of sleep deprivation. At the time of the 6-month follow-up interview, parents were still finding it “challenging” to balance all of their responsibilities. Having previous experience with a healthy infant seemed to provide parents a reference for and reassurance about their infant’s health. First-time parents who lacked this perspective questioned and worried about their infant’s health.
Physicians’ Methods of Informing Parents
The method in which primary care providers informed parents about the NBS results seemed to serve as a moderating factor for the intensity of the reactions. The approaches that were associated with more distress and uncertainty included informing parents by telephone, leaving a message on the family’s answering machine, informing parents before the infant was old enough to complete a sweat test, and informing parents of the NBS results without having the time to discuss the related issues in detail. Generally parents preferred having their provider tell them face-to-face during a routine appointment. They also appreciated having the physician “sit down and take time” to carefully explain the NBS results, the need for sweat testing, and the implications for their infant’s health, while providing realistic reassurance about the potential outcomes. When the parents perceived the telling as a positive experience, they felt reassured, whereas a negative experience increased parental distress and uncertainty. Table 2 highlights the positive and negative aspects of parents’ experiences of physicians’ methods of informing them.
Parents reported receiving a wide range of information from the primary care providers. The information that caused the greatest distress and uncertainty included physicians stating that the abnormal NBS results meant it was very likely that the child had CF and the physicians’ interpreting common newborn conditions, such as slight weight loss after birth, as a symptom of CF. Physician-provided information that seemed to reduce distress included the physicians’ estimating the risk of disease as low, explaining the genetic basis of CF, and referring the families for additional information.
Parents’ Psychologic Reactions/Processes
Parents’ first responses ranged from “not too surprised” to “shocked,” with most parents reporting feeling shocked at the news of their infant’s abnormal NBS results for CF. Reasons for their surprise included parents perceiving their infants to be healthy, parents having no family history of CF, and mothers following medical recommendations regarding lifestyle issues during their pregnancies. Statements in Table 3 show typical surprised reactions.
Cognitive and Emotional States
Throughout the waiting period, parents seemed to engage in 2 concurrent, interrelated, psychologic processes, ie, cognitive states ranging from “well informed” to “no clue” and emotional states ranging from “not too worried” to “freaked out.” At times, the emotional process occurred in response to cognitive uncertainty. For example, parents described their state of uncertainty about their child’s health while awaiting the sweat-test appointment as their major source of distress. Several parents became tearful while recalling that period of time, and they reported having difficulties eating, sleeping, concentrating, and functioning in general. The cognitive and emotional processes sometimes coexisted as competing elements influencing parents’ decisions and behavior. For example, despite having a clear cognitive understanding that CF is transmitted genetically and people do not have control over which genes are passed to their offspring, several parents described feelings of guilt for having passed a defective gene to their child.
A minority of parents (2 families) experienced very little distress. Contextual factors that tended to be associated with “feeling pretty safe that (infant) did not have it (CF)” included having a symptom-free infant who was growing well, having older healthy children, and/or prenatal testing for CF, coupled with a good understanding of the child’s low risk for having CF and some knowledge of the NBS process. These parents seemed to take comfort in their pediatricians’ reassurances and “didn’t think about it much” while awaiting the sweat-test appointment. It is noteworthy that, unlike the parents who were quite worried, these parents seemed to feel so confident that the sweat-test results would be normal that only 1 of the parents attended the sweat-test appointment.
Strategies to Reduce Cognitive Uncertainty
Requesting a Sweat Test as Soon as Possible
After receiving the information about the abnormal NBS results, parents were instructed to schedule a sweat test at the CF center closest to them. The wait times for the sweat-test appointment ranged from 3 days to 3 weeks. The most common reason for a delay was the infant needing to be older and/or to weigh more, to obtain sufficient amounts of sweat for a valid sweat test. During the interviews, several parents who described themselves as “devastated” after learning of the NBS results reported that they requested that the sweat test be performed as soon as possible, although they knew the test might need to be repeated if a sufficient amount of sweat could not be obtained.
Searching for Information
Although parents reported that their infants’ primary care providers explained the test results and the implications, they recognized that these providers were “not experts” in the area of CF. Therefore, parents embarked on a search for more information about CF, including signs/symptoms, prognosis, and the genetic nature of disease transmission. Sources of information included the NBS brochure they received at the time of their infant’s birth, the Internet, textbooks, friends, and family members. Parents seemed to value especially information from sources in medical fields but sought any source of information remotely connected to CF, such as the friend of a friend who had a relative with CF. One parent contacted her health maintenance organization and demanded an emergency appointment with a genetic counselor while awaiting the sweat-test appointment. Information that parents received from a genetic counselor or pediatric nurse practitioner at the time of the sweat test was reported generally to be the most useful and comforting.
Assessing the Infant’s Health and Calculating Risk
Once parents learned about the seriousness of CF, they tended to redirect their attention to evaluating whether their infant had evidence of the disorder. For example, some parents performed an informal sweat test by tasting their infant’s sweat to see if it was salty. In addition, parents found some reassurance in their infant’s rapid weight gains. However, because they learned that symptoms of CF do not always present early in life, many remained worried that their child might have CF. Several parents misinterpreted the early weight loss commonly seen among newborns or the respiratory symptom of a “stuffy nose” as evidence that their child might have CF. Several parents found comfort in learning that the calculated probability of their child having CF was low. Statements in Table 4 show examples of parents’ assessment strategies.
Strategies to Reduce Emotional Distress
During this time of distress, some parents sought the support of family members, friends, and/or clergy. Most couples reported discussing how a diagnosis of CF might change their lives and whether they would have more children. Some parents confided the NBS results with close family members and/or friends, and many prayed and/or asked others to pray for favorable sweat-test results.
Not Telling Others
A few parents chose to keep the information about the abnormal NBS results to themselves until they had the definitive results of the sweat test. This decision not to tell others seemed to represent an attempt to protect other relatives from worry and to protect themselves from having to explain the “complicated” genetics of CF. It also served as a form of denial, to protect themselves from thinking about the harsh realities they might face if their child actually had CF.
The consequences of the aforementioned strategies varied, depending on the type of information parents found, the credibility of the sources, their child’s health, and their perceptions about their child’s risk of having CF. Paradoxically, learning more about CF both helped and hindered parents. As one parent explained, the knowledge reduced her “fear of the unknown.” At the same time, this information seemed to increase emotional distress for parents who perceived the probability of their infant having CF as being high. These parents included those who had infants with some symptoms and/or were told by a reliable source, such as the pediatrician, that the child might have CF. Some parents who perceived the risk as being low were less distressed, whereas others remained worried. Parents who learned from credible sources, such as a genetic counselor, that the statistical probability of their child having CF was low and who had a healthy infant seemed more confident that the sweat-test results would be normal. However, most parents did not learn about the low probability until they met with the genetic counselor at the time of the sweat test. Therefore, for most parents, the consequence of gaining more information about CF continued or increased emotional distress about their child having CF.
Parents’ Attitudes About NBS for CF
At the end of the interview, parents were asked the question, “Based on your experience, what do you think about NBS for CF?” Despite their distress, most (90%) were supportive of NBS for CF, with a belief that early detection and intervention would improve the health and welfare of affected children. One family that was not in favor of NBS advocated carrier testing of parents either before or during pregnancy, so that parents would be aware of their risk before the birth of a child.
Data for the 2 CES-D samples (ie, parents of infants with abnormal versus normal NBS results) are shown in Table 5. The comparison group means were compared with the pre–sweat-test and post–sweat-test means for each gender. The women in the abnormal NBS group showed significantly higher CES-D scores in the pretest (P < .001), but not the posttest (P = .45), than did the mothers in the comparison group. The same was true for the men (pre–sweat-test versus comparison group, P = .007; post–sweat-test versus comparison group, P = .61). Similarly, significantly more mothers and fathers of infants with abnormal NBS results exhibited scores greater than or equal to the cutoff value of 16 before their child’s sweat test, compared with the parents of infants with normal NBS results (Fishers exact test: mothers, P = .0004; fathers, P = .01). However, the 2 groups were comparable after the parents learned of the sweat-test results (mothers, P = .99; fathers, P = .24). Additional evidence of changes in CES-D scores associated with abnormal NBS results was found in the significant decrease observed from before the sweat test to after the sweat test in the paired CES-D data for the 30 parents who provided both pre–sweat-test and post–sweat-test CES-D data. Specifically, these 30 parents showed a mean ± SD decrease in CES-D scores of 7.9 ± 12.5 points (range: −19–32 points) from before the sweat test to after the sweat test (P = .002, signed rank test).
There was a significant correlation between the length of wait and pre–sweat-test CES-D scores (r = −0.28; P = .05; N = 50, Spearman rank correlation); the direction of the correlation was opposite our original hypothesis. The median wait time was 7 days (range: 3–35 days).
This study was designed (1) to develop a theoretical framework describing the psychosocial experience of parents during the days between learning of their infant’s abnormal CF NBS results and having the diagnostic sweat test performed, (2) to generate hypotheses about factors that influence the type and intensity of distress experienced by these caregivers, and (3) to measure the distress quantitatively. The interview data showed that most parents experienced 2 interrelated psychologic processes during this period of waiting: namely, emotional distress, which included shock, worry, depressive symptoms, and guilt, and cognitive uncertainty about NBS, CF, and whether their child had CF. The news of the abnormal NBS results created a state of cognitive uncertainty about the nature of CF, whether their infant was a carrier or had the disease, and whether one or both parents were carriers. This uncertainty produced emotional distress. To reduce their uncertainty, parents searched for more information about CF. Although obtaining more information decreased their uncertainty about the disorder, the life-shortening prognosis associated with CF caused increased emotional distress. Consequently, parents redirected their focus to strategies to determine whether their child had the disorder. For some parents, this meant demanding a sweat test as soon as possible. Many parents conducted their own assessments, often misinterpreting normal newborn symptoms as signs of CF. This distress was amplified even more when a highly credible source, such as the infant’s pediatrician, also suggested that the symptoms could be related to a diagnosis of CF. Concurrent with the strategies to decrease cognitive uncertainty, parents described several strategies directed toward managing their emotional distress, such as seeking support by talking with others or praying, whereas others made a conscious choice not to discuss the results or their distress with others. The interview data also identified contextual factors (eg, physician’s method of informing parents) that influenced the degree of uncertainty and distress experienced by the parents.
The CES-D data confirmed that this emotional distress was indeed intense and clinically significant. For example, the rates of mothers and fathers with infants with abnormal NBS results scoring above the normal range before the sweat test were significantly higher than the gender-based rates in the comparison sample. Furthermore, the rates in the comparison group were comparable to population-based estimates of the postpartum depression rate (CES-D ≥16) may occur among ∼8–15% of new mothers.27 Similarly, although no data are available on the incidence of depression among men after the birth of a child, an estimated 2% to 3% of men in the general population may experience major depression.28
In addition, the pre–sweat-test CES-D scores of the mothers in our abnormal NBS sample were comparable to scores observed in the CES-D validity study’s normative sample of people who had recently lost a spouse to death.25 Therefore, the pre–sweat-test CES-D data supported the interview data by documenting a high incidence of depressive symptoms within a clinical referral range among the families in this study. These findings suggest that the news of abnormal CF NBS results may produce parental distress. Although the depressive symptoms appeared to decrease by 6 months, these findings are concerning from individual and population health perspectives. Research has shown a relationship between persistent maternal depressive symptoms and disturbances in parenting severe enough to result in insecure attachments and developmental psychopathologic conditions.29 In addition, research showed that many parents of children with false-positive CF NBS results demonstrated a poor understanding of the counseling they received at the time of the sweat test.6,8,30 Other screening programs identified increased maternal stress and hospitalization among infants with false-positive results.10 This is the first study to document the level of distress for both parents before the diagnostic test results. These observations of parents’ uncertainty and distress are concerning when we consider NBS on a national level. In Wisconsin, the immunoreactive trypsinogen/DNA (25 alleles) screening method results in a 0.35% incidence of abnormal CF NBS results and a 93% false-positive rate (equivalent to 14 false-positive cases for every infant diagnosed with CF).31 If we apply these percentages to the 4064948 births in 2000,32 then an estimated 13231 infants per year would have false-positive CF NBS results if NBS were implemented nationally with the Wisconsin algorithm. Numerous families may be vulnerable to the aforementioned psychosocial risks.
Fortunately, the interview data do more than show that parents experience distress after hearing the news of abnormal CF NBS results. These data provided a framework from which we developed 5 hypotheses about how various clinical interventions might influence the level, duration, and intensity of the distress and uncertainty experienced by parents during the waiting period. Each hypothesis corresponds to a potential intervention window in the screening process: (1) during prenatal care; (2) during the hospital stay after the infant’s birth; (3) when the primary care provider informs the family of the abnormal screening results; (4) during the wait for the sweat test; and (5) when the family is at the clinic for the sweat test. The hypotheses are that parents will experience less distress and uncertainty during the waiting period if (1) awareness of and understanding about NBS and prenatal screening options are increased for both parents during the prenatal period, (2) during the newborn’s hospital stay, hospital personnel choose a time when both parents are present and alert to explain the NBS program in more detail and to answer any questions the parents may have, (3) the primary care physician presents the news of abnormal NBS results face-to-face, when the child is old/large enough to complete a sweat test and when the physician has time to answer the parents’ questions, (4) counseling and/or other sources of information or support (eg, a toll-free information hotline) are made available during the wait time, and (5) the wait time between notification regarding abnormal NBS results and a sweat test is kept as short as possible.
The optimal time to perform genetic counseling associated with CF NBS results has been a controversial topic. In this study, parents received genetic counseling while awaiting results of sweat chloride analyses. Although this waiting period may be logistically ideal, the findings of this study raise some questions about the appropriateness of this timing. Parents who are highly distressed may have difficulty absorbing complicated genetic information. Conversely, after waiting ≥1 hour for sweat-test results, parents who receive normal results may not be interested in remaining in the clinic for genetic counseling. We contend that the optimal timing of genetic counseling associated with NBS remains a research question in need of an empirical answer. It also is unknown how CF NBS compares with NBS for other disorders in terms of parental initial reactions. This also deserves additional investigation. NBS for CF is unique in its use of genetic technologies that identify infants who are heterozygote carriers of only 1 CFTR mutation and therefore have false-positive results. The use of this new technology in NBS raises a number of clinical, ethical, social, and research questions about the appropriateness of state-mandated genetic testing of infants. The overarching question yet to be rigorously explored is as follows: What are the long-term psychosocial effects of true-positive and false-positive results for a potentially life-shortening disease?
We acknowledge several limitations to this study. Demographic data describing the individuals who declined to participate in this study were not available. Recruitment from only 1 medical center represents another limitation. Some may also question the small numbers in our sample. The grounded theory method used for the qualitative inquiry requires a sufficient number of participants to develop a theory, which for this study was 14 families. Furthermore, the sample size for the quantitative measure of parental distress provided adequate power to detect statistically significant differences.
This study demonstrates that most parents of infants with abnormal NBS results for CF experience a significant amount of distress during their wait for the final diagnostic results. The grounded theory method was instrumental in the development of a theoretical framework outlining the experience of these parents and hypotheses about how the distress and uncertainty could be reduced. More research is needed to develop evidence-based recommendations regarding optimal approaches to educating and counseling parents about NBS for CF.
This research was supported by the National Institute of Diabetes and Digestive and Kidney Diseases and by National Human Genome Research Institute grant R01 DK34108-16.
We are very grateful to the families who participated in this study. We thank Barbara Bowers, PhD, RN, and Roseanne Clark, PhD, for their wisdom regarding various aspects of this study, the clinic staff members who assisted with participant recruitment, and Emily Veith for her assistance in preparing the manuscript.
- Accepted December 16, 2004.
- Reprint requests to (A.T.) Department of Psychiatry, University of Wisconsin, 6001 Research Park Blvd, Madison, WI 53719–1179. E-mail:
No conflict of interest declared.
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