Beyond the Blood Spot: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease

Beyond the Blood Spot: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease


Iskander: Hello I’m
Dr. John Iskander. Welcome to CDC Beyond the Data. I’m here today with Dr. Stuart
Shapira, Associate Director for Science and Chief Medical
Officer of the National Center on Birth Defects and
Developmental Disabilities. Welcome Dr. Shapira. Shapira: Thank you John,
it’s a pleasure to be here. Iskander: So today’s Grand
Rounds session focuses on a point-of-care
newborn screening. I think many of our, in
our audience are going to be familiar with
traditional dried blood spot newborn screening. What is point-of-care screening and what conditions
does it test for? Shapira: Well, John, in contrast
to dried blood spot screening where a blood sample is attained
on every newborn and sent to a centralized
laboratory for testing, point-of-care screening is
done at the birthing facility. There is a screening test
performed on the newborn at that time and then the family
is alerted if there is an issue so that a diagnostic test
can be arranged to determine if the child has the
point-of-care condition. And there are two
conditions that are screened through this screening method or
paradigm and they are screening for congenital hearing loss,
so infants who are deaf or hard of hearing, and then for critical congenital
heart disease. So these are severe defects
in the structure of the heart that can lead to issues and require very early
treatment and intervention. Iskander: Tell us a little bit about the noninvasive test
methods that are used are to screen for hearing loss
and congenital heart disease. Shapira: Sure, the testing
for hearing loss is achieved through one of two methods where
responses to sounds are measured in the newborns and for the
critical congenital heart disease screening of there
are probes that are placed on the finger on the hand
and on the foot of the child and that test measures the
amount of blood that has, it’s an indirect measure
of the amount of blood that has oxygen in the blood. So for the hearing screening if the newborn doesn’t respond
appropriately to the test for hearing, for the sounds
that are provided to the newborn in either one or both ears,
that infant is considered as having failed the
hearing screening and for the critical congenital
heart disease screening, if there is a difference
in the percent of oxygen between that measured in
the hand and the foot, or a significant difference,
or if there is a low level of oxygen overall, then
that infant is considered as having failed the heart
the heart disease screening. Iskander: So how close are
we to having all newborns in the US covered by these
screenings, given that there, as you say, newer than the
dried blood spot screens? Shapira: So it looks like
we’re fairly close to 100% for the newborn hearing
screening. The hearing screening has
been in effect since 2005 so there has been now over a
decade of time for hospitals to institute the technology
for doing the hearing screening to assure that every baby
receives the hearing screening. Critical congenital heart
disease screening has only been approved since 2011. So most states but not all have
mandatory statewide newborn screening for critical
congenital heart disease and in those states I would
believe that most hospitals or birthing facilities
are doing the screening. So we’re getting close to 100%
for that screening test as well. Iskander: So, both for the baby
and the family and for the rest of us, what are the benefits
of detecting hearing loss and congenital heart
disease so early? Shapira: Well there
are benefits first for the baby and the family. Because to be able to diagnose
the condition early allows for early intervention when
it comes to hearing loss, because children who can’t
hear don’t develop speech appropriately and can’t
achieve at an appropriate level. So early identification
allows for some intervention so that the children can either
receive some type of treatment to improve their
hearing or to allow them to have a non-hearing
language development program like a sign language
development program early. And this shows, there’s
a lot of evidence that shows better outcomes if
the children are identified as having hearing loss by
the age of three months and then receive the
interventions starting before age 6 months. Now critical congenital
heart disease has, there’s a significant
risk for death if the children are
not identified early. So early identification and
getting surgical treatment and management significantly
improves the outcomes for these children and
decreases substantially the risk of early death. Iskander: Yes, I think we
saw couple of things today in one of the presentations. One, a very dramatic example of
an infant whose life was saved because they were
screened on the first day that their state made
screening mandatory, a very, very dramatic example. So we have a screen that’s
screening for these conditions, you know, that’s very widely
used, you know, has benefits to both the individual and,
you know, and to society. Nothing we present in Grand
Rounds is ever perfect so what big picture or some
of the problems and challenges that we’re facing with point-of-care new
newborn screening right now? Shapira: So I believe that
the main challenges arise from the fact that this
screening paradigm is not centralized the way blood
spot screening is centralized. So when every baby gets the
blood test, a heel prick for the blood spot screening,
these blood samples are sent to centralize, generally
state laboratories, that run the analysis and
have centralized follow-up for children who do
not pass the test so that families can be located,
the children can be referred for diagnostic testing
and for follow-up with the appropriate
specialists in order to treat and manage their conditions. So this paradigm of testing and follow-up is
incredibly well developed for blood spot screening and has
been that way for four decades. When it comes to point-of-care
screening each birthing facility does the screening. There are not well
developed centralized ways to report the data, or to do,
necessarily to do the follow-up with the children who are
do not pass the screen. Less so with critical
congenital heart disease because if a child
doesn’t pass the screen for that condition it’s
considered an urgent priority that a diagnostic test
be performed right away and the child would be referred
for an ultrasound examination of the heart to determine
is there a structural defect that requires immediate
management. Hearing screening on the other
hand is not confirmed while the child is in the hospital
and the onus is then placed on the family to go to a
specialist, an audiologist, a hearing expert, who can
do the diagnostic testing and determine does the
child truly have deafness or is the infant
hard of hearing. And then there is the third
component of that and that’s to get the child into
the appropriate services if they are found to be
deaf or hard of hearing, and that again is the onus is
partly on the family as well as on the pediatric or primary
care provider to make sure that that next step occurs. So there are a lot of steps
that occur after hospitalization for hearing loss that need
outside support in order to be accomplished which
is generally not the case for the traditional
blood spot screening which is very well
centrally coordinated. Iskander: Yes, so like many
multipart processes that we have in public health, the more
parts, the more opportunities to have dropout or
as it’s termed in this field, lost
to follow-up. Shapira: Yes. Iskander: So we also
did here today though about some strategies that are
being used in some places to try to address some of,
some of those problems, can you just talk briefly about
maybe, maybe one or two examples of those kinds of strategies? Shapira: Right, so, each state
and territory in the US has, for hearing loss, has a program
that was mentioned today, the EHDI program or the
early hearing detection and intervention program, where EHDI has developed
electronic means of collecting the screening
data and the follow-up data on newborns so that there
is a therefore a mechanism to help determine if an infant
has slipped through the cracks. So the fact that it’s, there are
now electronic systems that most of states and territories
have implemented allows for more timely tracking
for infants that fail and the EHDI electronic systems
also might have the opportunity for pulling data
from medical records through electronic
data transfers which can also improve
the timeliness and therefore the potential, I
mean, the outcomes the follow-up and the outcomes for
these for these newborns. With critical congenital heart
disease one of the challenges that I didn’t mention, but
was mentioned today in the in the presentation, is
that the diagnostic testing, if a child fails the
heart disease screening, is an ultrasound or an echocardiogram
examination of the heart. Which really should be done at
a facility that has expertise in doing echocardiography
on newborns. An adult echo cardiographer
is not going to have the same experience as a
pediatric echo cardiographer and an adult cardiologist will
probably not have the same experience with interpreting a
pediatric echocardiogram the way pediatric cardiologist would. So there needs to be
specific expertise in order to do the testing of which may
necessitate the infant being transferred to another
facility as well as interpreting the
testing results. Now some of this might be
achievable through telemedicine when there are, when
infants are being cared for in rural locations
so that they don’t have to be transferred
hundreds of miles in order to get the diagnostic testing. So these types of interventions
for doing the test, the diagnosing of children who have these heart
defects are being implemented in a number of states. Iskander: So we’re
coming near to the end of our time Dr. Shapira, but is there a take-home
message particularly for healthcare providers
who take care of newborns? Shapira: Oh absolutely, John. Healthcare providers should
presume that every infant that they see has undergone
screening and they should follow up to determine has the
infant truly been screened, what the screening results were, and if the infant did not
pass screening for one of the conditions, whether
it be a blood spot screening condition, or point-of-care
screening condition, that appropriate
follow-up occurs and that the child is referred to the appropriate
specialty provider. And this is critically
important for hearing screening since the onus is so much on the
family as well as the provider to make sure that the correct
follow-up either including the diagnostic testing for those
who fail the screen as well as the referral for early
intervention for those who are shown to have
hearing loss that that both of those steps in
the process do occur. So the healthcare provider
plays a key role in confirming that newborn screening
has occurred and that appropriate
follow-up is occurring. Iskander: So again another
example of public health where clinical providers
play a critical role. Thank you very much Dr. Shapira. Please join us next
month Beyond the Data.

Leave a Reply

Leave a Reply

Your email address will not be published. Required fields are marked *