[CIS PIDD] [cis-pidd] Follow-up of abnormal NBS for SCID in preterm infants

Mon Jun 15 12:13:23 EDT 2015

In Massachusetts, babies in the NICU get repeat NBS testing. Our cut-off
values now no longer generate a large number pif infants (including
pre-terms in particular) with out-of-range values, so adjusting the
cut-off values for this population of babies is indeed important.

Although it is true that most of these infants will eventually catch up
with normal TRECs (typically, by 37 weeks of GA), I would not be in favor
of avoiding repeat test just because they are premies, and they will
eventually catch up.

Indeed, on elf our first SCID babies was a premie, and it was critical to
re-test him (and perform flow) to reach a diagnosis.

What we do here in Massachusetts is that any infant (of any gestation age)
with undetectable TRECs (and a normal RNaseP value) is referred to flow
immediately.

Gigi 

Luigi D. Notarangelo, MD
Prince Turki Bin Abdul-AzizAl-Saud Professor of Pediatrics
Harvard Medical School
Division of Immunology, Boston Children's Hospital
Karp Research Building, Room 10217
1, Blackfan Circle
Boston, MA 02115
USA

tel: (617)-919-2277
FAX: (617)-730-0709

On 6/15/15, 12:07 PM, "Verbsky, James" <jverbsky at mcw.edu> wrote:

>In WI we send the whole panel every two weeksŠsince this is standard of
>care with any false NBS in infants.  I agree however that waiting until 37
>weeks is probably sufficient, since these kids should be isolated and
>infectious precautions taken regardless of outcome.
>
>What is your cutoff currently?  Can you tell us what is the range of the
>positives?
>
>Best
>
>James
>
>James Verbsky MD/PhD
>Associate Professor of Pediatrics
>Departments of Pediatrics and Microbiology
>Medical Director, Clinical Immunology Research Laboratory
>Medical Director, Clinical and Translational Research
>Medical College of Wisconsin/Children¹s Hospital of Wisconsin
>Milwaukee, WI  53226
>
>
>
>
>
>On 6/15/15, 10:51 AM, "Monica Lawrence" <ml4nz at cms.mail.virginia.edu>
>wrote:
>
>>The state of Virginia implemented newborn screening for SCID on June 4th.
>> In these early weeks, we are seeing a lot of abnormal screens even in
>>term infants, which is likely due to assay cut-offs that need to be
>>adjusted; the state lab is aware of this issue and working to do this.
>>In addition, we are seeing a lot of abnormal screens in preterm infants,
>>as would be expected based on the published experiences out of several
>>other states, including CA and WI.   The rate of abnormal screens is on
>>the order of 7-8 per day from what the state lab has told me; we were
>>expecting 20-30 abnormal screens per YEAR.
>>
>>I am hoping for the advice of others in states who have already
>>implemented NBS, as we work to develop our institution-specific protocol
>>for follow-up of abnormal newborn screens for SCID in preterm infants.
>>Specifically, I am hoping for your answers to the following questions.
>>
>>1 -  I am aware of the published guidance about repeating the TREC assay
>>every 1-2 weeks until normal or until 37 wks GA (whichever comes first),
>>followed at that time by flow cytometry if persistently abnormal (or
>>sooner if clinically there are worrisome signs for SCID). Is it the
>>practice at your programs to screen with (a) just a repeat TREC or (b)
>>the whole NBS panel every 1-2 wks until 37 wks GA or until normal?  The
>>issue with doing a repeat TREC alone is that it will be done at a
>>different reference lab and so the values cannot be cross-compared
>>directly with those generated by the state lab, and is an additional cost
>>to the patient/hospital.  The issue with doing the whole NBS panel again
>>is that, while free of charge to the patient/hospital and allowing for
>>longitudinal analysis, there is the possibility of then having other
>>abnormal screens be generated which require follow-up with potentially
>>expensive tests (e.g. amino acid abnormalities).
>>
>>2 - Our NICU team is questioning the utility of getting the repeat tests
>>every 1-2 weeks in preterm infants (which if abnormal, will be attributed
>>to being preterm most likely) vs simply waiting to repeat at 37 wks?
>>This becomes an issue particularly when a baby is VERY pre-term (e.g. 24
>>wks)
>>
>>Thanks very much for sharing your experiences.
>>
>>Monica
>>
>>
>>Monica G. Lawrence, MD
>>Assistant Professor of Medicine and Pediatrics
>>Division of Asthma,Allergy & Immunology
>>University of Virginia
>>PO Box 801355
>>Charlottesville, VA 22908
>>434-243-6811
>>ml4nz at virginia.edu
>>
>>
>>
>>
>>
>>
>>
>>
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