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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.

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Fall

2007

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“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.

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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