On Time / Every Time. A Partnership of Safety and Reliability for Newborn Screening

On Time / Every Time

A Partnership of Safety and Reliability for

Newborn Screening

Welcome

As a result of this program, the participant will be able to:

• Discuss the importance of obtaining a quality specimen on collection devices (cards).

• Identify key steps and responsibilities in the process of specimen collection, submission and reporting.

• Address the requirements for specimen handling, shipping, retention, and storage.

• Identify gaps in your facility’s processes that impact accurate and timely collection and submission of the newborn screening tests.

Presentations

 Rick Foster, MD Senior Vice President for Quality and Patient Safety, SCHA

 Fran Koch, MD Assistant Professor of Pediatrics and Medical

Director or Neonatal Nursery, MUSC / Shelly-Ann Williams, MD Neonatal Fellow, MUSC

 Kathy Tomashitis, MNS, RD, LD Program Manager, Pediatric Screening Bureau of Maternal & Child Health DHEC

 Sandi Hall, MT(ASCP) Laboratory Supervisor, Newborn Screening and Clinical Lab - Bureau of Laboratories DHEC/ Roberta

Bartholdi, MS, BSMT(ASCP), CLS(NCA) Program Director, Office of QA - Bureau of Laboratories DHEC

 Lorri Gibbons, RN Vice President for Quality Improvement and Patient Safety, SCHA

Purpose

•

Historical Perspective

•

South Carolina’s Partnership

•

Rapid Cycle Improvement Collaborative:

South Carolina Statewide Goal:

All SC Birthing Hospitals will submit 100% of

their newborn screening tests to the SC DHEC

Bureau of Laboratories within 24 hours of

collection. (within 120 days from February 10,

2014 Kickoff).

Understanding the Urgency

• SC DHEC Newborn Screening Program tests for 52

disorders (not just the “PKU” test!)

• Discretionary Advisory Committee on Heritable

Disorders in Newborns and Children uses evidence based process to evaluate candidate conditions for addition to the US Recommended Screening Panel (RUSP)

• Most US newborn screening programs follow the

RUSP in determining the conditions for which infants are screened in their states

SC Newborn Screening Test Panel

1. Metabolic disorders

•

• Disorders of Carbohydrate Metabolism

• Disorders of Organic Acid Metabolism

2. Hormone and Endocrine Disorders

•

• Congenital Hypothyroidism

• Biotinidase Deficiency

3. Other Genetic Disorders

•

• Sickle Cell Disease

• Hemoglobin C Disease

• Sickle B Thalassemia

Disorder Projected Number of Infants Born with Disorder in SC PKU 3 Galactosemia 1 MCAD 3 Other Metabolic Disorders 4 Cong. Hypothyroidism 10 Cong. Adrenal Hyperplasia 3 Biotinidase Deficiency 1 Hemoglobinopathy Disorders 100 Hemoglobinopathy traits 2000 Cystic Fibrosis 11

Taken from: SC DHEC Newborn Screening Manual

http://www.scdhec.gov/health/mch/ch/nbs/doc s/manual/nbs_intro.pdf

•

The purpose of Newborn Screening is to identify

infants at risk and in need of more definitive

testing.

•

The healthcare provider of record is the physician

responsible for providing follow up based on

results of screening tests

•

Sending repeat specimen

•

Further diagnostic testing and medical

management (initiation of treatment or

referral to specialist)

• It is also physician’s responsibility to notify DHEC of final diagnosis and date of initiation of treatment or if test was determined to be false negative based on

diagnostic work up.

• If the physician of record will not be providing follow

up care, he or she must notify DHEC’s Division of

Children’s Health of the name of the physician who

will be providing follow up care as soon as possible • If name of physician is not known DHEC will attempt to

Congenital Hypothyroidism

• One of most common treatable causes of intellectual

disability

• Delayed treatment results in lower IQ and impairment

in growth

• Essential that treatment begun by 21 days of age.

• Tests performed: T4/TSH

• May have false negative if specimen collected < 24

hrs of age

• Premature infants may have transient abnormalities

Congenital Hypothyroidism

• If TSH >=40mIU/mL, Physician of record will be called about results(Result will also be mailed)

• Any other abnormal result is only mailed to Physician of Record

• Abnormal result-Physician should send Free T4 and TSH ASAP and Contact Local Endocrinologist ASAP

• Resend Specimen to DHEC

• Do Not wait for results of second DHEC specimen to confirm diagnosis

• Treatment is with L-Thyroxine tablets and should begin by 21 days of age.

Congenital Adrenal Hyperplasia

• Potential Medical Emergency

• Most commonly due to 21 hydroxylase deficiency

• Newborn screening tests only for presence of 21

hydroxylase deficiency

• Test: 17- OH progesterone

• Treatment prevents

• adrenal crisis which can result in death

Congenital Adrenal Hyperplasia

• 17-OHP >=48ng/mL for infants >=2500 g

• 17-OH P>=130ng/mL for infants <2500g

• Physician of record will be called with results (in

addition to mailing)

• Other abnormal results mailed

• Abnormal result obtained

• Infant should be evaluated immediately

• Endocrinologist should be contacted immediately

• 17-OHP,electrolytes and glucose should be

Potential Emergent Metabolic Disorders

• Amino Acid Metabolism Disorders

• Maple Syrup Urine Disease (MSUD)- (Elevated

VAL and/or Elevated LEU+ILE)

• Urea Cycle Disorders ( Elevated CIT)

• Citrullinemia

• Argininosuccinic Aciduria

• Galactosemia (Abn GALT and Galactose levels)

• Organic Acid Metabolism Disorders

Metabolic Disorders

• All require prompt evaluation

• Any result that suggests likelihood of disease will be called to the physician of record (in addition to mailed result)

• Contact Metabolic Specialists with these results ASAP

• Do not just refer the patient, speak to Metabolic Specialist directly. Utilize 24 hr metabolic emergency line 1-866-744-3934 as necessary.

• If unable to reach Metabolic Specialist, particularly over a weekend/holiday, refer patient to a Pediatric ER.

Coordinate care with Pediatric ER physician to ensure he/she knows which disorder the infant may have.

Metabolic Disorders (con’t)

• Work with Metabolic Specialist in obtaining further

diagnostic investigations

• Work with DHEC in sending repeat filter paper tests

• Metabolic Specialists in SC:

• Greenwood Genetic Center

Richard Schroer, MD Neena Champaigne, MD

• 24 hr metabolic emergency line 1-866-744-3934

Other Genetic Disorders

• Prematurity and Transfusions can affect Results

• Results are mailed only

• Work with DHEC in obtaining repeat specimens

• Consult Pediatric Hematologist

• Cystic Fibrosis

• Elevated IRT (immunoreactive trypsinogen)

• Prematurity and Illness can lead to false positives

• Meconium Ileus can cause false negative results in an affected infant

• Abnormal Result mailed only

• Work with DHEC in obtaining repeat testing

• Consult local Pulmonologist for recommendations regarding further diagnostic testing and management

Resources for Providers

• Pediatric genetic/metabolic, endocrine, hematology and pulmonology specialists

• SC DHEC Newborn screening manual and algorithms also includes parent information sheets

http://www.scdhec.gov/health/mch/ch/nbs/ manual.htm

• ACMG ACT sheets and confirmatory Algorithms

•

Physicians should ensure that NB screen

results are followed up

•

Physician of record assumes this responsibility

•

All abnormal results should be further

evaluated

•

Physicians should work with DHEC and local

specialists to ensure that abnormal results are

handled appropriately

References

• Kaye CI, Committee on G, Accurso F, La Franchi S, Lane PA, Hope N, Sonya P, S GB, Michele AL. Newborn screening fact sheets. Pediatrics. 2006;118(3):e934-63. doi: 10.1542/peds.2006-1783. PubMed PMID: 16950973.

• American Academy of P, Rose SR, Section on E, Committee on Genetics ATA, Brown RS, Public Health Committee LWPES, Foley T, Kaplowitz PB, Kaye CI, Sundararajan S, Varma SK. Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics. 2006;117(6):2290-303. doi: 10.1542/peds.2006-0915. PubMed PMID: 16740880.

• MUSC Children’s Hospital Facts Fax, Volume Issue 12 http://www.musckids.org/pediatrics/about/facts_fax

• SC DHEC Newborn Screening Manual

Prior to Specimen Collection:

•

required-covered under general authorization to treat

• Usually part of MD standing orders

• Only allowable refusal is religious objection

• Provide mother with brochure explaining NBS

• Confirm mother’s address and phone number

• Confirm name of baby’s MD post D/C

Steps in the Process: Reports

• All reports (normal, unacceptable and abnormal) sent

to MD and hospital or other sender

• Hospitals required to check records by 10 days after

birth to ensure specimen sent to DHEC

• Health Regulation will check during audits to ensure

The Form: It’s All in the Details

Information blocks on DHEC 1327 form:

•

Check the expiration date of the form

•

The sender keeps the second copy for records

•

MUST have baby’s last name, DOB, sex

•

MUST

have physician name & address

•

MUST

have hospital sender number

How to Complete Form

The following slides will illustrate how to

properly fill out the DHEC 1327 Form.

1. Check expiration date of form.

2. Do NOT cover the Biohazard symbol. This visible symbol is required by OSHA to be on the ‘secondary container’ for this specimen. The fold-over flap serves as the ‘secondary container’.

28 3. Legibly write in newborn and mother demographic information:

• newborn’s name

• mother’s name

• address

• Parent/guardian phone number

• hospital medical record number

4. Legibly write in remaining information:

• Physician Medical license no., name, address, phone number

• Hospital Sender no., name, address

• Newborn’s DATE OF BIRTH & TIME OF BIRTH ***

• Specimen DATE OF COLLECTION & TIME OF COLLECTION ***

• Newborn’s BIRTH WEIGHT & PRESENT WEIGHT *** • MULTIPLE BIRTHS (Y/N)

• TRANSFUSED (Y/ DATE OF LAST TRANSFUSION) *** • FEEDING TYPE

***Information is used to interpret test results –VERY IMPORTANT THAT THIS INFORMATION IS ACCURATE.

•Missing information that can delay testing and/or result reporting.

• Missing information that can delay follow-up care of patient. It is imperative that all fields on the collection form be completed accurately. All of the fields are important and must be completed. There are a subset of fields that, when not completed accurately, can delay and/or disrupt testing or follow-up care for newborns who have an abnormal test result or an unsatisfactory specimen.

Common Errors on DHEC 1327 Form

•

Missing demographic information

•

Physician field: do NOT enter “unknown” or

leave blank

•

Do NOT

place computer label over biohazard

symbol

Before Collection

•

Do NOT

store unused forms flat; forms need

to be standing on side

•

Keep the plastic wrap on the forms that come

wrapped around the forms until you open

•

Do NOT

store forms on chart

•

Do NOT

use addressograph or photocopy

Puncture Sites

• ONLY ONE ACCEPTABLE Site: most medial or lateral of the plantar surface of the heel

• Unacceptable Sites:

• Central area of the infant’s foot (arch)

• Fingers of newborns

• Earlobes of newborns

Specimen Collection: Overview

•

Fill circles at least ¾ full; if less than ¾ full

the circle may not be used

•

Collect continuous blood flow to fill ALL

circles

•

Do NOT layer the blood drops: ONE DROP

PER CIRCLE

•

Do NOT fill the circles from the back

•

Do NOT mash the blood specimen into the

Specimen Collection

•

Gather appropriate supplies

•

Follow standard precautions and wear PPE

•

Keep infant warm and position foot lower than

heart

•

Wipe site with 70% alcohol; puncture with

lancet

•

Wipe away first drop of blood

Specimen Collection, cont.

• Gently apply and release pressure on heel

• Allow ONE DROP of blood per circle

• DO NOT excessively squeeze or “milk” the site

• Allow drop of blood to drop onto the circle

• Let blood completely soak through filter paper

• Repeat steps 1-11 until all 5 circles ¾ filled

• Elevate infant’s foot and apply pressure to site with

After Specimen Collection

•

Do NOT

hang form vertically to allow blood

to dry

•

Form MUST

be flat and away from heat while

blood spots/circles are drying

•

Allow blood to dry for at least 4 hours

Examples of Satisfactory/Unsatisfactory

Collection

• The following slide shows examples of blood spots

submitted that are Satisfactory

• The following slide shows examples of blood spots

39 Quantity Not Sufficient (QNS) – Front of Card

Quantity Not Sufficient (QNS) – Back of Card

Layered Specimen

Some layering and one spot is clotted SATISFACTORY Specimen

UNSATISFACTORY Specimen

Preparing DHEC 1327 for Shipping

• Once the blood spots have dried, prepare for mailing or transporting

• Mail ALL dried specimens within 24 hours after collection

• Do NOT staple and fold the form

• Do NOT use ANY kind of tape to secure the fold

• Fold flap over the blood specimens

• Place form in envelope. Do NOT overstuff envelope. Forms should lay flat within the envelope.

Shipping Issues for DHEC 1327

•

If sending more than one form in an envelope,

rotate the forms 180 degrees from each other.

•

Do NOT

collect forms over a period of time

before mailing or shipping.

•

Do NOT

batch forms.

•

Do NOT

place forms or envelopes containing

New Saturday Hours!

The Newborn Screening laboratory is going to

be implementing Saturday hours in a 2-stage

process:

• Phase 1

• March 1, 2014, start to review Friday test results

Also will receive specimens that come in late Friday or early Saturday morning

• Phase 2

• Everything in Phase 1

Begin testing specimens received late Friday and early Saturday (Start date TBD)

Continued Success: Effective QA Plan

Train the Trainer is Available

Overall quality

of services provided

is the ultimate goal!

Steps in the Process: Follow-up

• Repeat tests are required when: one of the screening tests was abnormal, the initial sample was unacceptable, the initial

sample was collected before 24 hours of age

• MD assumes responsibility to ensure repeat specimens collected

• If MD not providing care after D/C, he/she must notify DHEC as soon as possible

• If infant has been D/C from NICU before needed repeat

testing, NICU must contact follow-up MD and provide DHEC with name of follow-up MD

• If infant expires before repeat testing, DHEC must be

Steps in the Process: Follow-up

• Follow-up program calls MD when results are highly

suggestive of immediate morbidity/mortality. Information also faxed.

• Follow-up program sends letter to MD when results are outside of normal limits, but not highly suggestive of a disorder

• Follow-up program sends mother letter when specimen rejected as unsatisfactory

Steps in the Process: Follow-up

• Follow-up continues until case determination is

made: confirmed disorder, false positive, expired before repeat/confirmatory testing, lost to follow-up

• Can take 6 months or more

On Time/ Every Time

A Rapid Cycle Improvement Collaborative

•

Kickoff – February 10, 2014

•

2 Webinars – March 5 and May 1

•

Office Hours – March 25 @ 9 AM

•

Monthly data reports through Feb 2015

Key Resources

• CDC newborn screening website

www.cdc.gov/newbornscreening

• DHEC website

www.scdhec.gov/health/mch/ch/nbs/index.htm

• DHEC email address

NewbornScreening@dhec.sc.gov

• Newborn Screening Law

http://www.scstatehouse.gov/code/t44c037.php

• Newborn Screening Regulations

http://www.scstatehouse.gov/query.php?search=DOC&se archtext=DHEC&category=CODEOFREGS&conid=747 5542&result_pos=&keyval=107&numrows=10

Next Steps

•

Create improvement team

•

Identify Newborn Screening Point of Contact and

email to: NewbornScreening@dhec.sc.gov

•

Review and examine all steps to identify your

specific gaps in the screening process

•

Attend Webinar II – May 1, 2014 10 am & 4 pm

Special thanks to the following for their commitment and dedication to improving the process of newborn screening across South Carolina.

• Beth DeSantis, RN, MSN, WHNP

Director, Maternal and Child Health Bureau, DHEC • Lucy Gibson, MSW, LMSW

Director, Division of Children’s Health, DHEC • Carla Griffin

Assistant to the Director, Public Health, DHEC • Lisa Hobbs, RN

Perinatal Consultant - Bureau of Maternal/Child Health , DHEC