Parents’ Experiences and Needs Regarding Infant Sickle Cell Trait Results

Abstract

BACKGROUND AND OBJECTIVE

Sickle cell trait (SCT) has reproductive implications and can rarely cause health problems. SCT counseling improves parent knowledge but is infrequently received by children with SCT compared with children with cystic fibrosis carrier status. There are no national guidelines on SCT disclosure timing, frequency, or counseling content. Parents’ experiences with SCT disclosure and counseling are poorly understood but could inform the development of guidelines. We explored parents’ experiences with and desires for SCT disclosure and counseling for their infants with SCT identified via newborn screening.

METHODS

Parents of infants 2 to 12 months old with SCT were recruited through a state newborn screening program for semistructured interviews to explore their experiences with and desires for SCT disclosure and counseling. Inductive thematic analysis was conducted.

RESULTS

Sixteen interviews were completed from January to August 2020. Most parents reported that SCT disclosure occurred soon after birth, in person, and by the child’s physician. Five themes were identified: parent knowledge before child’s SCT disclosure, family planning, the dynamics of SCT disclosure and counseling, emotions and actions after SCT disclosure, and parent desires for the SCT disclosure and counseling process. Two primary parent desires were revealed. Parents want more information about SCT, particularly rare symptomatology, and they want SCT counseling repeated once the child approaches adolescence.

CONCLUSION

Parents report receiving their child’s SCT diagnosis in the early newborn period from their child’s doctor but indicate they receive incomplete information. Opportunities exist in primary care pediatrics to better align SCT disclosure timing and counseling content with parent desires.

What’s Known on This Subject:

Children with sickle cell trait (SCT) receive less counseling than cystic fibrosis carriers. SCT is often discussed in primary care, but there are no national guidelines to aid practitioners in the timing, content, and frequency of SCT disclosure and counseling.

What This Study Adds:

Contrasting with previous studies on knowledge acquisition, this study queried parents about needs and desires for sickle cell trait (SCT) disclosure/counseling processes. Parents identified specific information requests for SCT disclosure/counseling: more SCT content, particularly rare symptomatology, and SCT information as children approach adolescence.

Sickle cell disease (SCD) is an autosomal recessive disorder that causes multisystem organ disease and early death. Being heterozygous for hemoglobin-S is referred to as having “sickle cell trait” (SCT). In the United States, SCT is identified through newborn screening (NBS).¹ SCT occurs in people of all races or ethnicities, commonly affecting Black Americans (1 in 13 Black newborns).² Although most people with SCT live asymptomatically,³ SCT has been implicated in metabolic, cardiovascular, and renal abnormalities; examples include kidney disease,^4–9 as well as rhabdomyolysis and exercise-related death in athletes and military recruits with SCT.^9–13 SCT has important reproductive implications; individuals with SCT have a 50% chance of passing the “S” gene to their children and a 25% chance of having a child with SCD if they reproduce with another person with SCT. These reproductive implications, along with increasingly understood clinical manifestations of SCT, are reasons for notifying parents and children of SCT status.

Parents report that formal genetic counseling about SCT is favorable, decreases anxiety, improves knowledge, and facilitates family dialogue.¹⁴ Disclosure of carrier results is also favorable among genetic counselors.¹⁵ Unfortunately, SCT disclosure methods and counseling content vary widely. Studies with pediatricians reveal that not all counsel about SCT’s reproductive and medical implications, despite being trained to do so.¹⁶ People with SCT rarely receive genetic counseling or SCT information from health professionals, and instead, rely on family for information.¹⁷ This contrasts with the breadth of services for cystic fibrosis carriers (CFCs), despite similar clinical and public health consequences for people with SCT and CFCs.^18,19 In fact, health care providers are more likely to think that children who are CFCs should receive genetic counseling compared with children with SCT.²⁰ Variability in disclosure timing and counseling content could result in misunderstanding SCT implications, parental anxiety or displeasure,^21,22 and could leave parents with an incomplete picture of their child’s health. As these children age, they may unknowingly be at risk for rare SCT health complications. Without reproductive counseling, they may face undue risks for having a child with SCD.

The need for SCT disclosure and counseling is evident. For children, this responsibility typically resides with the primary care pediatrician. Parents may not have received professional NBS or SCT counseling from other providers before engaging with a pediatrician.^23,24 There is no national guidance on how SCT is disclosed and what content is offered during counseling. The objective of this qualitative study is to understand the disclosure and counseling experiences of parents of children with SCT disclosure, and to learn their desires for these processes, to inform standards in primary care settings.

Methods

Study Objective

We sought to understand parents’ experiences with and desires for disclosure and counseling for their child’s SCT. We defined SCT “disclosure” as when parents first learn about their child’s SCT and SCT “counseling” as any additional content provided about SCT. We defined comprehensive counseling as when a parent received both reproductive counseling and information about rare symptomatology for their child with SCT.

Study Design

We conducted interviews with parents of children 2 to 12 months old with SCT after obtaining consent. The minimum age was meant to allow time for NBS laboratory results and disclosure. Twelve months old was selected as the upper limit to focus on experiences immediately after birth. This study was approved by the institutional review boards at both Children’s National Hospital (protocol Pro00012307) and the Virginia Department of Health (study 70013).

Interview Script Development

A team including health disparities researchers, a hematologist, a primary care pediatrician, public health experts, and a newborn screening researcher developed an interview script with open-ended questions and prompts to ascertain SCT disclosure and counseling experiences and desires of parents with infants with SCT (Fig 1; Supplemental Information). The interview script was available in English and Spanish.

FIGURE 1.

Topics covered in parent interviews, January to August 2020.

Eligibility

Parents were eligible if they were 18 years or older, English or Spanish speaking, their child’s NBS showed SCT (FAS pattern), and their child was 2 to 12 months old at the time of interview. Parents were excluded if their newborn had additional hemoglobinopathies, was <37 weeks’ gestation (to not cloud findings with counseling about other hemoglobinopathies or conditions related to prematurity) or received a blood transfusion (because this can skew NBS results). These variables were available through NBS records.

Recruitment Procedures

Identifying Eligible Participants

Eligible parents were identified and recruited through the Virginia Newborn Screening Program; it includes both the state’s health department and Division of Consolidated Laboratory Services, which execute the state’s NBS testing and follow-up. All newborns in Virginia undergo dried blood spot NBS at 24 to 48 hours of life unless their parents object on religious grounds.²⁵ As a result, we sampled from nearly the entire Virginia newborn population.

Sampling

We had no strong a priori reason to suspect that parents’ experiences or needs differed by specific clinical or demographic factors. Therefore, we chose to randomly sample among the eligible individuals identified from the Virginia Newborn Screening Program, which was composed of nearly all newborns in the state. We sampled from December 2019 to July 2020 using a random number generator to identify eligible parents of 30 eligible children during each sampling event. Consistent with similar studies^26–28 and qualitative methodology,^29,30 we anticipated reaching thematic saturation between 15 to 20 interviews, given our focused research question. We sampled in increments of 30 until reaching thematic saturation in our interviews; interviews and coding occurred in parallel with the sampling.

Contacting Eligible Participants

Two recruitment packets (1 for each eligible parent) were sent to the address listed for each eligible child. The coronavirus disease 2019 pandemic raised concerns about US postal service delivery. As a result, soon after the onset of the pandemic, we modified our protocol and conducted telephone outreach 1 additional time to the nonresponders who still met inclusion criteria (ie, whose child had not aged out). Contact information for participants that responded “Yes” and “Maybe” on the response card was sent to the research team. Parents were phoned, verbally consented, and underwent a one-on-one interview. There was no data sharing about patients or families who declined interest in the study between the state health department and the research team. Those who answered affirmatively but did not receive an interview were either unreachable with the contact information that they provided on the response card (after 3 telephone attempts) or declined interest in the study after contact.

Interviews were conducted in English by authors Dr. Sims and Ms. Gessner, as there were no Spanish-speaking participants in the sample. The interviews were limited to 60 minutes. Recorded interviews were professionally transcribed into deidentified transcripts and analyzed. Participants received $50 for their participation and an SCT information sheet.^31,32

Descriptive statistics summarized the study participants. Inductive thematic analysis, conducted by authors Dr. Sims and Ms. Gessner, was used to analyze interview data.^33,34 Analysis followed these steps: transcripts reviewed for content, data organized into labeled codes (ie, if text stated “I didn’t know really anything about SCT before having my baby,” this would be coded as “limited or no knowledge about SCT previously”), grouped codes into categories (ie, various codes categorized as “knowledge about SCT before this child”), and categories combined into themes (ie, grouping categories about previous SCT/SCD/NBS knowledge to create the theme “parent knowledge before child’s SCT disclosure). We coded such that each incidence of a code was counted, so if a participant said, “once I had more education, it lessened the fears a little” and also later in the interview remarked, “the document said most people with SCT live their lives without knowing or experiencing side effects, that part gave me relief,” each of these was coded as “SCT disclosure provided relief.”³⁵ Researchers reviewed transcripts independently multiple times and executed the above steps. Constant comparison was used for reliability and to identify unanticipated themes.³⁶ We used multiple forms of triangulation (data triangulation: using multiple participant perspectives to develop themes; investigator triangulation: two interviewers to control for bias) for validity.^30,35 We met regularly to modify the codebook, and 1 final round of analysis was conducted with the final codebook. Online Dedoose© software³⁷ was used. We stopped sampling once thematic saturation, the point at which no new themes emerged from the data, occurred.^38,39 Interrater reliability was calculated manually.

Results

Sixteen one-on-one interviews were conducted between January and August of 2020. More than half of the participants (n = 10) had a partner also participate in the study, but all interviews were conducted individually and confidentially without reference to other parents’ interviews. Most parents identified as Black/African American (81%). More than one-third of parents identified as SCT-positive (37.5%), 37.5% knew that they did not have SCT, and 25% were unsure of their SCT status. Given the relationship described above, there were 11 individual children represented who were Black (73%) or multiracial (27%) and were, on average, 8.9 months old (Table 1). Five children had 2 parents participate individually; 6 children had 1 parent participate. The average interview length was 18 minutes.

TABLE 1.

Demographics of Parent Interviewees and Child With SCT, 2020

Demographics	n (%)
Parent interviewee, n = 16
Female	9 (56.3)
Male	7 (43.7)
Mean parent age, y	34.7
Parent race
Black/African American	13 (81.3)
Multiracial	1 (6.3)
White	2 (12.5)
Parent education
High school diploma or equivalent	2 (12.5)
Some college	4 (25.0)
College degree	5 (31.3)
Master’s degree or higher	5 (31.3)
Parent awareness of their own SCT status
SCT positive	6 (37.5)
Neither SCT nor SCD	6 (37.5)
Unsure	4 (25.0)
Child with SCT, n = 11a
Female	6 (54.6)
Male	5 (45.4)
Mean child age, mo	8.9
Child race
Black/African American	8 (73)
Multiracial	3 (27)

^aParents shared the same child (10 of 16); all parents were interviewed individually, even if their spouse/partner was also a participant.

Few parents (25%) reported receiving state health department notification about their child’s NBS result, 25% did not recall receiving notification, and 50% were unsure.

There were 683 coded segments of data. There was 92% interrater reliability. Table 2 contains the 5 identified themes, as well as codes that appeared in the data ≥10 times and corresponding categories and quotes.

TABLE 2.

Themes, Categories and Codes of Parent Interviews About Child’s SCT, 2020; N = 16 Interviews, 683 Coded Segments

Themes	Categories	Codesa	Demonstrative Quotesb [Interview(I) Number]
#1: Parent knowledge before child’s SCT disclosure	Knowledge about SCT before this child	Limited/no knowledge about SCT previously	I had heard about [SCT] but never really knew much about it. [I7]
	SCT/SCD in other children	No other children with SCT	No, I have 5 other kids and none of them have [SCT] [I10].
	Previous experience with SCT/SCD	Family member(s) with SCT	It runs in my family. [I5]
	Awareness of SCT status for self	No personal interaction with SCD	What about SCD, did you have any previous experience with that? I don’t, no. [I3]
		Limited/no NBS knowledge before this	What did I know about the newborn screening? Not too much. [I16]
		Family member(s) with SCD	I have a distant cousin with SCD. [I11]
		Previous knowledge/experience with NBS	My husband [with SCD] usually will ask when they are going to test for SCD. [I2]
		SCT self-knowledge in adulthood	I got tested because the baby was an IVF baby, so my wife and I got tested for kind of a screening. [I04]
#2: Family planning	Preconception conversation about SCT	Had preconception conversation with partner about risk	I found out about [my partner’s SCT] when we were dating. She’s always been very aware that she’s got it, so she’s always made mention that because of it, it’d be possible that children that we would have would have SCT. [I11]
#3: The dynamics of the SCT disclosure and counseling	Content that was disclosed about SCT	Received limited information about SCT during disclosure	They told me that…it’s nothing to worry about. And then I asked ‘what does it mean? What should I expect for him? What should I watch out for?’ And they said, ‘Oh it’s nothing to worry about.’ [I13]
	Disclosure deliverer	Reproductive implications ONLY discussed	The doctor ensured that it’s not a major issues right now. It’s more of an issue if both parents have it. [I5]
	Timing of SCT disclosure	Disclosure included reminder for SCT discussion during teen years	She stated that it shouldn’t impact her in any way, but knowing that once she gets to be an adolescent, it’s a conversation we need to have with her and know that if you marry somebody else who’s also a carrier, this is what your future may look like. [I7]
	Mechanism of SCT disclosure	SCT disclosure from a physician	His doctor told me, I think it was after his two-day, three-day check up. [I15]
		SCT disclosure happened soon after birth	He was probably a month old by that time. [I16]
		SCT disclosure in person	At his…what was it? Two week? Or one month check up? At the doctor’s office. [I2]
		SCT info relayed via patient health literature (paper, electronic, etc)	I know we got a little—not even a brochure. It was as print out. [I6]
		SCT disclosure received indirectly (postal, emailed, etc)	At that time, they didn’t’ say anything. I just saw it on the paperwork when I was about to leave. [I15]
#4: Emotions and actions after SCT disclosure	Reaction to SCT disclosure	SCT disclosure caused negative feelings	I was worried about the future and what could possibly happen to him. [I9]
	Next steps after SCT disclosure	SCT disclosure a surprise	No one we know on my side of the family has it, so it was kind of a surprise. [I2]
		SCT disclosure provided relief	Actually, I was happy that she didn’t have SCD, so it was a happy moment. [I16]
		SCT status of child met expectations	I was neutral because I knew that there was a chance that she would have it because I have it. [I8]
		Information-seeking via Internet	I visited WedMD. I googled stuff initially when they first got it, just doing a quick search. [I5]
		No information-seeking about SCT since disclosure	I haven’t really even thought about it. Like I said, I mean I didn’t even do research for myself. [I1]
		Child SCT disclosure did not prompt self/partner testing	It did not prompt me to get tested. [I5]
		One SCT positive prompted broader family discussion	I had to ask my mom, my sister did anybody have SCT. About the grandparents or any other family members. [I14]
#5: Parent desires for the SCT disclosure and counseling processes	Desired changes to process	Desired more information than was given	I guess more information could have been helpful. [I3]
		Desired more information on rare symptomatology	I guess I didn’t really get a clear understanding of what the side effects or what downside it is to just have the trait but not the full disease. [I5]
		Would not change anything about SCT disclosure	No, I wouldn’t have changed anything for my second baby. [I7]
		Desires SCT conversation when child is older	Maybe something to make us like ‘Oh, we need to remember this later on in life for him’ [I3]

Themes, categories, and codes were generated from qualitative data of interview transcripts of parents interviewed about their experiences with and desires for SCT disclosure and counseling, January to August 2020.

^aCodes that are present in the data ≥10 times, and their corresponding categories and themes, are reflected here.

^bEach quote represents a single participant’s response.

Theme 1: Parent Knowledge Before Child’s SCT Disclosure

Parents reported having limited knowledge about SCT; only 3 parents had significant knowledge about SCT (ie, knowledge about both reproductive implications and rare complications for their child with SCT) before their child’s birth. Parents who self-identified as having SCT largely discovered this in adulthood. Many participants had family members with SCT (12 interviewees); however, there was low knowledge about SCD and NBS among our participants. Consistent with the literature,¹⁷ some parents reported getting information about SCT inheritance and SCD risk from family.

Theme 2: Family Planning

Parents identified having conversations with sexual partners about SCT and SCD before conceiving their children, to contextualize SCT status and understand SCD risk for future children (10 participants). Few reported complex, intense, or emotional discussions about whether to conceive a child given perceived SCD risk. One participant described: “[I tried] to coach [my partner] saying, ‘Well I don’t have it at all [SCT], so ain’t no way [our future child] is getting the whole thing [SCD]’”.

Theme 3: The Dynamics of SCT Disclosure and Counseling

Parents reported disclosure and/or counseling from a physician (10 participants), and it occurred in person (9 participants) and soon after (≤3 months) the child’s birth (12 participants). Few parents (3 interviewees) received comprehensive SCT counseling and content focused on future reproductive risks for their child with SCT.

Theme 4: Emotions and Actions After SCT Disclosure

Parents discussed negative feelings (6 participants), surprise (5 participants), relief (4 participants), and met expectations (4 participants) after SCT disclosure/counseling. Negative feelings were driven by either lack of SCT knowledge (“I was scared. …This is my first daughter and our first child together. … I heard about [SCD], but I didn’t know too much about [SCT]”), or misunderstanding content (“And I kinda cried because I thought she had SCD [and not SCT]”). Many parents (7 interviewees) sought additional information on the Internet (Google, YouTube, and WebMD were cited). Parents did not seek SCT testing for themselves after learning that their child had SCT (only reported by 2 participants), but the child’s SCT result did prompt broader family SCT-related discussions for 5 of our participants.

Theme 5: Parent Desires for the SCT Disclosure and Counseling Process

Many parents desired more content from physicians about SCT (10 participants), particularly about SCT rare symptomatology. Some wanted information about SCT for their child during adolescence when reproductive implications become relevant (“Maybe something to make us like, ‘Oh, we need to remember this later on in life for him’”). Parents identified a missing process in the medical home for revisiting this type of information in their child’s teenage years. Some parents (5 participants) were satisfied with the content, messenger, and timing and did not wish to change anything about their experience.

Other Notable Findings

We invited both parents of each child to participate independently and confidentially. This contributed to the richness of the data. Parents responded differently than their partners in their individual interviews regarding family history, experiences, and opinions.

Satisfaction with the disclosure and counseling processes varied. Overt displeasure was noted among parents (2 participants, not partners) who only learned of their child’s SCT by receiving our study recruitment letter. They were counseled via phone, encouraged to speak with their child’s pediatrician, and received the routine informational mailer at the conclusion of the interview. These were not a representative number of experiences, although still notable.

Some parents desired community support around SCT. These parents (2 participants, not partners) wanted to connect with others about SCT via national organizations and social media.

Discussion

We interviewed a random sample of parents from a population-based database about their experience with SCT disclosure and counseling after an NBS indicated their child had SCT and their preferences for improving the process. There are many moving parts in providing an SCT diagnosis and providing counseling. Previous studies have revealed suboptimal success in the process of notifying parents of their child’s SCT.^24,40 Physicians have been shown to provide insufficient content about SCT when they do counsel¹⁶; physicians also self-report knowledge gaps on NBS.²⁰ Other community-based work revealed limited knowledge about both SCD and SCT but showed that personal sources of information (eg, friends and family) may enhance people’s ability to make informed reproductive decisions.²⁷ In contrast with previous studies focused on parent knowledge acquisition, this study queried parents about their needs and desires for SCT disclosure and counseling processes.

Our findings suggest 2 primary desires from parents with children with SCT that add significantly to the literature. First, parents want to know more about SCT when it is disclosed, particularly on rare SCT symptomatology, and not just about reproductive implications for their child. Secondly, parents recognize SCT status knowledge as increasingly valuable as their child approaches reproductive years, and desire to have this information revisited by their child’s health care provider. Capturing parent desires for SCT counseling and disclosure adds novelty to the growing literature in this space and could be instructive if practice guidelines are developed. Future work may involve leveraging existing educational tools, such as the American College of Medical Genetics and Genomics’ “ACT” Sheets, not only in the newborn period but also during adolescence to provide timely counseling.^41,42 Our participants largely received SCT disclosure and limited counseling from their child’s doctor, in person and soon after birth. Most participants identified having preconception conversations about SCT status and SCD risk, which differs from some existing literature.²⁴

We successfully partnered with a state health department. They send notifications to parents of infants with laboratory-confirmed SCT soon after birth. This notification letter is generic without specific NBS results and instructs parents to follow up with their child’s health care provider on details and implications. Based on our small sample, this letter either was not memorable for parents or was not reaching families. Lack of SCT disclosure and counseling may have lasting impacts; most adults are unaware of their SCT status⁴³ and there is community confusion about its clinical importance.⁴⁴ States have varying processes for SCT notification; this is unsurprising, given that the identification of carrier states is a secondary consideration and not the primary intention of NBS. Most states communicate results directly or indirectly to physicians.⁴⁵ Future work may include unifying notification processes between states.

Our participants were diverse in sex, education, and awareness of their own SCT status; the racial diversity of our group was as expected given the epidemiology of SCT. There were several limitations. Given the average child age of >8 months, some of the details of SCT disclosure and counseling were likely lost, despite attempts to prevent recall bias. We used simple random sampling in our recruitment to reach a diverse group of eligible participants. Despite being equipped to conduct interviews in Spanish, we did not recruit any Spanish-speaking parents. Our process for identifying Spanish-speaking families was imperfect and was based on documented ethnicity in NBS records. There might have been barriers to participation for parents with limited English proficiency that our recruitment strategy did not address. Concerns about our small sample size should be tempered by our strategy of random sampling from a population-based dataset alongside our achievement of thematic saturation, the primary endpoint for qualitative studies. Although our response rate was low, it was consistent with what is typical for mail-based recruitment,⁴⁶ and we yielded a similar number of parent interviews as other work in this space.^28,40,47,48 We acknowledge that a change of address among eligible participants might have impacted who was reachable. Digital recruitment should be considered for future work.

Conclusions

Our results identify newly clarified gaps in current SCT disclosure and counseling practices from parents’ perspectives; parents want more information about their child’s SCT (both reproductive implications and rare symptomatology) and want SCT counseling to be revisited during adolescence. Important to these desires, there are currently no national guidelines for physicians for SCT disclosure and counseling. As a result, practices vary between providers. In addition, there is no consistent way for the medical system to maintain and recirculate information about SCT status to children and their families. Without this, patients with SCT may make uninformed reproductive decisions later in life and may also be at risk for rare SCT medical complications unknowingly. Given the unique vulnerability that children with SCT and their parents may face,^21,49 particular attention should be given to improve SCT disclosure and counseling and to repeat these steps as appropriate across the life cycle. These findings provide a starting point, one that is informed by parent perspectives, for standardization of SCT disclosure and counseling. Patients, families, and pediatricians would benefit from the development of national guidelines for SCT disclosure and counseling informed by the expertise of parents, primary care providers, subspecialists, community groups, and hospital systems.

Glossary

CFC

cystic fibrosis carrier

SCT

sickle cell trait

SCD

sickle cell disease

NBS

newborn screening