Parental
Response
to Repeat
Testing
of Infants
with ‘False-Positive’
Results
in a Newborn
Screening
Program
James
R. Sorenson,
PhD, Harvey
L. Levy, MD,
Thomas
W. Mangione,
PhD, and Stephen
J. Sepe,
MPH
From the Boston University School of Medicine, School of Public Health, Massachusetts Metabolic Screening Program, and Center for Survey Research, Boston
ABSTRACT. Forty-five percent of the parents of 60
in-fants being retested in a newborn screening program for
metabolic disorders understood that their infant was
undergoing retesting because the first test result was
abnormal. Fifty-five percent had incorrect or incomplete information, believing that retesting was routine, or that mistakes had been made in the original testing procedure, or they report being told nothing specific about the
test-ing. Parents who were aware that the initial test was
abnormal were no more anxious or depressed while
wait-ing for the repeat test results than other parents. At a
second interview after learning the normal results of the repeat test, both those parents informed of the initial abnormal result as well as those not informed were less
anxious and depressed. However, 36% of the parents of
these normal infants reported concern about the health
of their infant because of the repeat testing. This concern was not related to a parent’s knowledge that the initial test result was abnormal, but was greater in parents
reporting that they had not received sufficient informa-tion about the screening/testing process and its
signifi-cance for the health of their infant. Pediatrics 1984;
73:183-187; newborn screening program, parental
re-sponse to repeat testing, testing.
Routine newborn screening for a variety of
dis-orders is conducted in many parts of the wonld.13
Such screening is designed to diagnose diseases
such as phenylketonunia within the first few days
after birth when the infant is clinically normal and
when treatment can prevent the usual clinical
course of an untreated disease.4
Newborn screening tests identify three groups of
infants: those who do not have a disease, those who
Received for publication Feb 1, 1982; accepted March 29, 1983.
Reprint requests to (J.R.S.) Boston University School of
Medi-cine, School of Public Health, 80 East Concord St, Boston, MA
02118.
PEDIATRICS (ISSN 0031 4005). Copyright © 1984 by the
American Academy of Pediatrics.
do, and those whose test results are outside the
accepted normal range, but not so aberrant as to
indicate a disease. These “suspicious” cases require
a repeat test to distinguish the rare infant who has
a disease (true positive) from the far more common
case in which the initial suspicious result is due to
a transient biochemical on hormonal perturbation
(false positive).
Requests for repeat specimens are usually made
after an infant has been released from the hospital.
Parents take the infant either to their physician on
a clinic for the repeat test. As virtually all of these
infants will have a normal result on the second test,
there is concern that telling parents the initial
result was elevated, ambiguous, or that there might
be a problem will lead to unwarranted anxiety,
depression, or worry among parents.
There have been no studies that assess directly
the nature and extent of parental reactions to
re-peat newborn screening. Therefore, a study was
designed to assess (1) parental understanding of
the reason for repeat testing of their infant; (2)
parental response to the repeat test as a function
of their understanding of the reason for the retest;
and (3) the frequency of parental concern resulting
from such repeat screening.
PROCEDURES AND METHODS
Subjects for this study came from the
Massachu-setts Newborn Screening Program.5 This program,
which tests for a variety of disorders, consists of
multiple tests performed on filter paper specimens
of blood and urine from newborn infants.
Addi-tional specimens are requested when a result in one
of these initial tests is considered to be abnormal.
These requests are made through a letter from the
State Laboratory Institute to the physician or clinic
primary specimen. (For extremely elevated results
a telephone call may precede the letter. This study
excluded such cases.) This letter explicitly states
that the initial result was abnormal, that this
sug-gests the possibility of a disorder (the specific
dis-order is identified and briefly described), and that
an additional specimen is necessary to rule out a
true positive result. This letter states that the
ab-normal test result is very likely a transient
bio-chemical on hormonal perturbation.
The physician on clinic to whom this letter is
sent is responsible for contacting parents,
explain-ing the need for the repeat test, arranging for the
additional specimen, and reporting the results of
the retest to parents. If test results on the repeat
specimen are abnormal, the infant is referred for
further evaluation. If the repeat test result is
non-mal, the initial result is considered a false positive.
Between October 1978 and June 1979, there were
68 families in which the initial newborn test result
was suspicious and a repeat specimen was
re-quested. Parents were sent a letter by the research
group after they had taken their infant to a
physi-cian or clinic for the repeat test. The letter stated
that a study was being conducted to assess parental
experiences with newborn screening, that the
ne-search group knew only that a repeat specimen was
requested, and that participation was voluntary and
confidential.
Data collection involved two parental interviews,
the first after collection of the specimen for the
repeat test but before parents knew the results, and
the second after the parents learned the results of
the repeat test. If the repeat test result was
abnor-mal, the family was excluded from the study.
Interviews were conducted on the telephone
ex-cept in cases in which respondents requested a
personal interview. Twenty percent of the
inter-views were conducted in person. Analysis of data
collected via telephone compared with data from
personal interview revealed no significant
differ-ences in respondent characteristics or study
van-ables. In all cases, interviews were conducted with
the parent who took the newborn to the physician
on clinic for the repeat test.
Information was collected on parental age,
edu-cation, race, understanding of the reason for the
repeat test, and knowledge of the disorder involved.
Parental psychological status was assessed with the
Multiple Affect Adjective Checklist (MAACL),6 a
132-item test that measures anxiety and depression
through respondent assessment of his on hen feeling
states. The form used in the study was the “today”
or state form, which is intended to assess
psycho-logical state rather than more permanent
person-ality traits.
RESULTS
Of the 68 parents eligible during the study period,
60 (88%) participated; two refused to participate,
and six did not participate because of family illness
on our inability to establish contact. Fifty-five of
the participants were the mother and five the father
of the retested newborn.
First Interview
The presumptive disorders for which repeat
spec-imens were requested are as follows: galactosemia,
33%; maple syrup urine disease, 20%;
homocysti-nunia, 20%; phenylketonunia, 20%; histidinemia,
3%; iminoglycinunia, 2%; and cystinunia, 2%.
Spec-imens requested for suspicion of congenital
hypo-thynoidism were excluded because this aspect of the
screening program had just begun.
In 63% of cases, some special action, such as a
call from the physician or clinic, was taken to notify
parents of the need for a specimen (Table 1). In the
remaining cases a routine procedure, usually a
well-baby visit, was utilized. (Massachusetts physicians
may not have contacted parents for an immediate
retest, knowing that if the initial result was highly
elevated they [the physician] would have received
a call from the State Laboratory.)
The reasons for the repeat test that parents
ne-port being given by their provider are listed in Table
2. Forty-five percent of the parents reported being
told that the initial test result was abnormal
whereas 55% reported being told something else.
Although 25% knew the precise reason for the
repeat test, namely that the first test result was
elevated, less than one third, 32%, reported being
told something at variance with what them provider
was told by the state laboratory.
The 60 parents discussed the repeat test with
various acquaintances while waiting for results:
spouse, 75%; parent, 30%; health professional, 25%;
friend, 21.7%; and sibling, 13.3%. Although not
shown, approximately 60% of those discussing the
repeat test with their spouse indicated that anxiety
about their infant’s health was a reason for the
discussion. In 24% of contacts with nonspouses,
anxiety was mentioned as a reason for the
discus-sion.
TABLE 1. Method Used to Inform Parent of
Repeat Test (N = 60)
Need for
Method %
Special effort
Doctor’s/clinic secretary or nurse called or
sent postcard 36%
Doctor/clinic called parent 27%
Routine office/clinic visit
Other
63
TABLE 3. Mean Parental Knowledge
Multiple Affect Adjective Checklist of Initial Test Results
(MAACL) Anxiety and Depression Scores by Interview and
Psychological Dimension
1st Interview 2nd Interview Mean Difference Scores
1st to 2nd Interviews Total Population . (5) 4.5 .000 (4.8) Anxiety
1st Test Other Reason for
Abnormal Repeat Test
(1) (2) Pt
10.7k 9.9 NS
(3.6) (4.4) 1st Test Abnormal (3) 6.2 (3.3)
Other Reason for
Repeat Test
(4) Pt
5.3 NS
(3.1)
Depression 18.7 16.8 NS
(4.5) (5.5) 15.6 (4.9) 14.0 NS (5.8) 2.8 .001 (6.4)
N 27 32 25 32 58
* Values shown in columns 1 to 5 are means; SD is shown in parentheses.
t
Determined t test, independent samples.:1:Determined by t test, dependent samples.
At the time of the first interview, 81% of the
parents believed that the repeat test would show
their infant to be healthy, whereas the remainder
said they did not know what the test would show.
None of the parents believed that their infant would
be found to have a disorder.
A comparison between parents who understood
that the first test result was abnormal and the other
parents revealed no significant differences in
dis-cussion of the repeat test with various people, nor
in beliefs about the actual health status of their
infant.
At the time of the first interview (Table 3,
col-umns 1 and 2), there were no significant differences
in either anxiety or depression between parents who
understood that the initial test results were
abnon-mal and those who did not have this information.
Analysis also revealed that parents informed
about the need for a repeat test by a special contact
were no more or less likely than parents informed
during a routine visit to discuss the repeat test with
others, to be uncertain about the health of their
infant, on to be more anxious or depressed.
Second Interview
The second interview took place within 14 days
after the parents were informed that results of the
TABLE 2. Reasons Providers Gave Parents
Test (N = 59)
for Repeat
Parent Told %
Initial test result abnormal 45
1st sample elevated 25%
1st sample ambiguous 12%
May be a “problem” 8%
Other reason 55
Told nothing specific 23%
Repeat testing routine 19%
Mistake made on 1st test 10%
1st test lost 3%
repeat test were normal. Twelve of the 60 parents
were not informed of the repeat test results by their
physician on clinic; presumably they were told that
they would not hear from their provider unless
there was a problem. These parents were
inter-viewed by the researchers 2 to 4 weeks after their
infant was retested.
Forty-two percent of the parents who learned the
results of the repeat test did not wait for their
physician to call. Rather, they initiated the contact.
Very few parents reported discussion of the repeat
test results with spouses, friends, or relatives; 15
parents did discuss the results with a professional
other than their regular provider, usually for the
purpose of obtaining information.
As shown in Table 3 (columns 3 and 4), at the
second interview parents who understood that the
initial test result was abnormal were no more
anx-ious or depressed than parents who had a different
understanding of the reason for the repeat test. An
examination of Table 3 data also shows significant
reductions in anxiety and depression among both
groups of parents from the first to the second
interview (column 5). However, there was concern
on doubt about the health of the infant among some
parents. When asked about this, 64% ofthe parents
said they had no concern, but 36% had concern,
with about half of these expressing a great deal of
concern. This concern was not related to whether
on not the parent knew that the initial test result
was abnormal. Moreover, this specific concern
about the health of the infant was not related to
the more general assessments of parental anxiety
and depression. In addition, parents expressing
doubts about the health of their infant at the second
interview were not necessarily those who reported
these doubts at the first interview, suggesting that
these concerns developed during the repeat testing
Analysis of data implies that the absence of
in-formation by parents about the screening/testing
process, as distinct from the repeat test result, may
have contributed to such concerns. For example,
parents expressing doubt about their infants’ health
after the screening process, compared with those
who did not, were more likely to say that not enough
information about the testing process had been
provided by their physician or clinic (50% v 22%,
P < .05). Also, they were more likely to want to
talk to someone about both the health of their
infant (40% v 8%,
P
< .01) and about the resultsof the repeat test (80% v 20%, P < .01). Moreover,
parents who reported being told nothing specific
about the repeat screening program at the first
interview, were at the second interview somewhat
more likely than other parents to want to talk with
someone about the results of the repeat test (73%
V 31%, P = .06). They also tended to be less satisfied
with their screening experience than other parents
(31% v 59%, P < .05). A similar conclusion
con-cerning the negative effect of too little information
by participants was reached after an analysis of a
Tay-Sachs screening program.7
Finally, 78% of the parents reported that they
were satisfied or very satisfied with the services
provided by the screening laboratory, and an almost
equal number (72%) were satisfied with their
doc-ton’s or clinic’s services. Of those expressing
dissat-isfaction, most said that the screening program took
too long to report results and that their physician
on clinic had not supplied enough information.
DISCUSSION
The results reported here should be viewed with
certan study limitations in mind. First, we relied
upon parental, not provider reports, to determine
the information that parents obtained about the
screening/testing process and results. We suspect,
however, that there is very high correspondence
between what providers told parents and what
par-ents report they were told, in large part because of
the recency and the importance of the screening!
testing events for these new parents. Even if there
are occasional differences, however, the results
ne-ported here remain important, for they document,
at a minimum, the relationship between parental
beliefs and information about the screening/testing process and their response to this experience.
Second, the assessment of parental anxiety and
depression is based on self-reported feeling states.
It is possible that some parents may have felt it
necessary to be less than candid in reporting their
feelings or that psychological processes, such as
denial, may have influenced self-reports. Although
the instrument used has demonstrated reliability
and validity, a clinically and behaviorally focused
assessment might have permitted more subtle
ex-amination of parental psychological status.
With these limitations in mind, we believe that
the present study provides support for one of the
recommendations of the Committee for the Study
of Inborn Errors of Metabolism of the National
Academy of Sciences.8 This committee, after
delib-erating the pros and cons of disclosing initially
aberrant test results to parents before retesting the
infant, recommended disclosure. They did so largely
on the belief that parents have a night to be fully
informed about all aspects of the care and
treat-ment of their infant. There was concern,
neverthe-less, that disclosure of such results, virtually all of
which turn out to be false positives, would
psycho-logically upset parents. The present study
demon-stnates that disclosure of such initial aberrant
screening results does not appear to entail any
significant risk of making patients anxious or
de-pressed. More specifically, the data show that
pan-ents informed of the initial abnormal results,
com-pared with those not informed, were no more
anx-ious on depressed, nor did they have more concerns
about the health of their newborn, either while
waiting to learn the repeat test results or after
learning them.
The present study also demonstrates, however,
that having an infant retested can lead to parental
concern. Even when normal retest results are
re-ported, if parents have not received adequate
infon-mation about the screening/testing process and its
implications for their infants, then some concern
about the health status of the newborn may result.
For some parents, knowledge of the results of
screening tests constitutes insufficient information. A more complete understanding of the screening/
testing process is required. Such information, in
providing knowledge about the potential health
problems and hence the necessity of netesting, may
enable parents to put the repeat test and its results
in perspective.
We cannot determine from the present study
whether the concerns expressed by the parents will
last a week, a month, or longer, non can we tell from
this study whether the doubts about their infant’s
health will lead parents to seek special cane or view
their infant as being at nisk for special health
prob-lems.9 What this study does demonstrate is (1)
informing parents that an initial screening test
result is abnormal did not psychologically upset
them and (2) providing information about the
proc-ess of newborn screening/testing, rather than only
the results, can reduce the chance that parents will
develop concerns about their infant’s health
ACKNOWLEDGMENT
This work was supported, in part, by a contract from
the Division of Family Health Services, Massachusetts Department of Public Health, Boston.
REFERENCES
1. Levy HL: Genetic screening. Hum Genet 1973;4:1-104
2. Levy HL, Mitchell ML: Regional newborn screening for hypothyroidism. Pediatrics 1979;63:340-342
3. Mamunes P: Neonatal screening tests. Pediat Clin North Am 1980;27:733-751
4. McBean MS: The problems of parents of children with
phen-ylketonuria, in Bickel H, Hudson FP, Woolf LI (eds):
Phen-ylketonuria and Some Other Inborn Errors of Amino Acid Metabolism. Stuttgart, Gang Thieme Verlag, 1971, pp
280-282
5. Levy HL: Neonatal screening for inborn errors of metabolism.
Clin Endocrinol Metal, 1974;3:153-166
6. Zukerman M, Rubin B: Manualfor the Multiple Affect
Adjec-tive Checklist. San Diego, CA, Educational and Industrial
Testing Service, 1965
7. Childs B, Gordis L, Kaback MM, et al: Tay-Sachs screening:
Social and psychological impact. Am J Hum Genet 1976;28:550-558
8. Committee for the Study of Inborn Errors of Metabolism,
National Academy of Sciences: Genetic Screening, Programs, Principles, and Research. Washington, DC, National
Acad-emy of Sciences, 1975, pp 259-260
9. Levy JC: Vulnerable children: Parents’ perspectives and the use of medical care. Pediatrics 1980;65:956-963
LATE AT NIGHT THOUGHTS
We have always known that childhood is the period in which new languages
as well as one’s own can be picked up quickly and easily. The facility disappears
in most people around the time of adolescence, and from then on the acquisition
of a new language is hand, slogging labor. Children are gifted at it, of course.
But it requires a different order of respect to take in the possibility that children
make up languages, change languages, perhaps have been carrying the
respon-sibility for evolving language from the first human communication to twentieth
century speech. If it were not for the children and their special gift we might
all be speaking Indo-Eunopean or Hittite, but here we all are, speaking several
thousand different languages and dialects, most of which would be
incompre-hensible to the human beings on earth just a few centuries back.
Submitted by Student
From Lewis Thomas: Late at Night Thoughts on Listening to Mahler’s Ninth Symphony. New York,