newborn screening 411 - rady children's hospital-san … · · 2016-10-13newborn screening...
TRANSCRIPT
- 1 -
Newborn Screening 411
RCHSD
Newborn Screening
Area Service Center*
California mandates that
all newborns be screened
for a multitude of
metabolic disorders,
including phenylketonuria
(PKU) and galactosemia;
primary congenital
hypothyroidism, cystic
fibrosis and sickle cell
disease and some other
non-sickling
hemoglobinopathies. For
a complete list of the
screened-for disorders,
please refer to the state
newborn screening
website
(www.dhs.ca.gov/nbs).
The goal of Newborn
Screening is to prevent
the long-term effects of
What is Newborn Screening?
What’s New with Newborn Screening?
genetic disease through
early screening and early
intervention.
Blood samples are
obtained via heel-stick by
the sixth day of life. To
decrease the chance of
false positives and false
negatives, the State
mandates that babies be
at least 12 hours of age
when the specimens are
collected. The exception
to this is if a baby is going
to be transfused prior to
that, in which case a
specimen must be
collected first. A second
specimen is collected at
least 24 hours after the
transfusion. The blood
sample is collected on
special filter and mailed to a
State- contracted Newborn
and Prenatal Screening
(NAPS) Laboratory for
testing and review.
WWEE’’VVEE MMOOVVEEDD!!
TTHHEE NNEEWWBBOORRNN SSCCRREEEENNIINNGG AARREEAA SSEERRVVIICCEE CCEENNTTEERR SSEERRVVIINNGG SSAANN DDIIEEGGOO,, IIMMPPEERRIIAALL,, OORRAANNGGEE,, AANNDD RRIIVVEERRSSIIDDEE CCOOUUNNTTIIEESS IISS NNOOWW UUNNDDEERR TTHHEE AAUUSSPPIICCEESS OOFF RRAADDYY CCHHIILLDDRREENN’’SS HHOOSSPPIITTAALL SSAANN DDIIEEGGOO ((RRCCHHSSDD)) OOUURR NNEEWW AADDDDRREESSSS:: NNEEWWBBOORRNN SSCCRREEEENNIINNGG PPRROOGGRRAAMM
RRAADDYY CCHHIILLDDRREENN’’SS HHOOSSPPIITTAALL SSAANN DDIIEEGGOO 33002200 CCHHIILLDDRREENN’’SS WWAAYY,, MMAAIILLCCOODDEE 55111166 SSAANN DDIIEEGGOO,, CCAA 9922112233
PPHHOONNEE:: ((885588)) 996666--88770088 FFAAXX:: ((885588)) 996666--88770099
Fall
2007
- 2 -
“A new baby is like the
beginning of all things-
wonder, hope, a dream
of possibilities.”
-Eda J. Le Shan
Rady Children’s Hospital
“What’s New” continued from page 1
We are happy to have
Kimberly, who transfers
to us from Rady Children’s
Pediatric Bleeding
Disorder Clinic. She has
been a prenatal genetic
counselor and has worked
for a pediatric bleeding
disorder clinic. She is the
first CF Genetic Counselor
in the Newborn Screening
Program for California.
Our new Community Liaison, Stevie comes to
NBS with a wide range of
social work experience.
She has worked in group
homes, for foster care, a
mental health clinic and
for a State Children’s
Initiative. She is also the
author and majority
contributor for this
newsletter.
Annette is our
Administrative Support
Specialist. She has been
with Children’s Hospital
since 2004, working in
Human Resources as an
Associate. She is also an
on call Domestic/Family
Violence Case Manager.
Barbara is a Nurse
Coordinator who has been
with NBS since 2000.
She has an exciting
career history including,
nurse manager for two
outpatient clinics, team
leader/home visitor for the
Navy New Parent Support
Team, and a 23 year
career as a Navy nurse.
Charlotte, Program
Specialist, has been an
important part of Newborn
Screening since 2001
when the program was
located at San Diego
Regional Center. Prior to
that, she was a Service
Coordinator for 16 years,
providing case
management services to
children and adults with
developmental disabilities.
The NBS Area Service
Center has recently
moved from UCSD to
Rady Children’s Hospital
San Diego. Our team has
reorganized. A short
biography of each team
members follows.
Our Program Director,
George, comes to us with
experience in neonatal
and perinatal nursing. He
earned his bachelors in
Nursing from the
University of New Mexico,
and his Masters in Health
Care Science from
George Washington
University. He retired this
July from the U.S. Navy
Nurse Corps.
Gail, Nurse Coordinator,
left the Chadwick Center
Family Support Program
where she worked for nine
years helping
overburdened families,
teen parents and families
with special medical
needs find essential
resources.
- 3 -
What is an ASC?
Newborn Screening Area
Service Centers follow up
on positive, inadequate
and early specimens;
missing results, not
obtained samples and out
of hospital births; provide
training, consultation and
technical assistance to
NBS providers, primary
care providers and public
health departments; and
provide assistance,
referral and education to
families and affected
infants. RCHSD ASC is
one of seven Area Service
Centers designated by the
California Department of
Public Health, Genetic
Disease Screening
Program, each of which
serves a geographic
region. All are linked to
the NBS Program’s
central computer in
Richmond, California.
LOCATED AT:
7920 Frost Street, Suite 302 San Diego, CA 92123
MAILING ADDRESS: 3020 Children’s Way
Mail Code 5116 San Diego, CA 92123
PHONE:
(858) 966-8708
FAX: (858) 966-8709
For more information visit: www.dhs.ca.gov/NBS/
*Area Service Center designation and funding is provided by the California
Department of Public Health, Genetic Disease Screening
Program.
RCHSD
Newborn Screening
Area Service Center
Why is Newborn Screening so Important? Screening soon after
birth facilitates early
detection and treatment
of the screened-for
disorders, thereby
preventing disability and
even death. Many of
the metabolic disorders,
including PKU and
galactosemia, are
treated mainly with diet
modification. When
treatment for
hypothyroidism, i.e., oral
administration of thyroid
hormone, is initiated within
the first few weeks of life,
developmental delay and
other health problems are
prevented. Morbidity and
mortality from sickle cell
disease are significantly
reduced with early entry
into comprehensive care,
which includes penicillin
prophylaxis and parent
education. Early detection
of thalassemias allows
close monitoring for
infection and treatment of
anemia. Newborn
screening saves lives and
improves the health and
quality of life of affected newborns.
We appreciate all of the hard work you put in to make Newborn Screening so successful!
Charlotte, Annette, Barbara, George, Kim, Gail & Stevie