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.