Newborn Screening program

September is Newborn Screening Awareness Month

California Newborn Screening Program

We have modified our process for reporting non-urgent newborn screening test results due to an unexpected contract termination by our printing vendor. As a result, paper results will not be mailed until a contract with a new vendor can be executed. Communication of all positive and urgent cases to providers is unaffected by this issue and continues to take place through the Area Service Centers (ASCs). Here’s what you need to know:

Newborn Screening Results:

Hospitals are receiving results electronically. If you have a relationship with the newborn’s hospital of birth, please consider obtaining results from the hospital.
For clinicians who request results via our fax number, we are experiencing a massive increase in requests and have a significant backlog. Providing an email where we can send results will help us in filling your request electronically. However, paper results will not be mailed for the foreseeable future.

Thank you for your understanding during this time.

The California Newborn Screening (NBS) Program is a public health program that screens all babies for many serious but treatable genetic or congenital conditions. About 1 out of every 600 newborns tested in the state will be diagnosed with one of these conditions.

To ensure the health of all its newborns, state law requires that babies born in California have newborn screening soon after birth. A baby's parent or legal guardian may only decline newborn screening if it conflicts with their religious beliefs or practices.

Background

Newborn screening began in California in 1966 with screening for a genetic condition called phenylketonuria (PKU). In 1980, PKU testing gave way to an expanded Newborn Screening Program that screened for PKU and two additional conditions. Since then, the Newborn Screening Program has grown further and now screens for over 80 different conditions, both genetic (passed down in families) and congenital (present at birth).

Goal

The goal of the program is to identify babies with these conditions early, so treatment can be started quickly to prevent or reduce disease.

How it works

Between 12 and 48 hours after a baby is born, an authorized healthcare provider takes a blood sample from the newborn’s heel and places it on a blood spot card, which is sent to a state-contracted laboratory for testing.

Around the same time, the baby receives hearing and critical congenital heart disease (CCHD) screening. The California Newborn Hearing Screening Program helps identify hearing loss in infants and guides families about the appropriate services needed to develop communication skills. The California Critical Congenital Heart Disease Screening Program oversees CCHD screening and can be reached by email at CCHDScreening@dhcs.ca.gov.

Parents who want their baby’s leftover blood spot card destroyed after newborn screening has been completed should complete and submit the “Parent Request to Have Newborn Blood Specimen Card Destroyed” form.

Important Information for Parents

Important Information about Newborn Screening

Cost and billing

Medi-Cal and most other insurance companies cover the NBS Program about 99% of the time.

If your baby was born in a hospital and a blood sample was taken there, the cost is usually included in the hospital bill. If your baby was born at home, you will receive a notice from the NBS Program asking for insurance information. As a courtesy, CDPH will bill your insurance for you.

Newborn Screening Program Overview Videos

English Video	Spanish Video	Blood Spot Video

Title: California Department of Public Health’s Newborn Screening Program Language: English Published: 7/2/2018 Duration: 3:23	Title: Programa de Detección de Recién Nacidos de California Language: Spanish Published: 7/2/2018 Duration: 4:17	Title: Important Facts about My Baby’s Newborn Screening Blood Spot Storage Language: English Published: 1/18/2019 Duration: 3:00

English Video

Spanish Video

Blood Spot Video

Title: California Department of Public Health’s Newborn Screening Program

Language: English

Published: 7/2/2018

Duration: 3:23

Title: Programa de Detección de Recién Nacidos de California

Language: Spanish

Published: 7/2/2018

Duration: 4:17

Title: Important Facts about My Baby’s Newborn Screening Blood Spot Storage

Language: English

Published: 1/18/2019

Duration: 3:00

Frequently Asked Questions About the California Newborn Screening Program

What is newborn screening?

Babies are screened for serious genetic and congenital conditions at birth by the California Newborn Screening (NBS) Program. Early diagnosis followed by prompt treatment can prevent physical and mental disability and even death.

Per year, less than 0.2% of children born in California will be affected by one of the conditions screened for by the state’s NBS Program. The NBS program refers affected families to important and timely follow-up medical care that can dramatically improve the health and well-being of children with these conditions.

You can read more about newborn screening on the Information for Families page.

What types of conditions are babies screened for?

The NBS Program checks babies for genetic and congenital conditions that can affect their health, development, and overall quality of life. These conditions may occur randomly or be inherited, meaning they’re passed down from parents to their children.

The Recommended Uniform Screening Panel (RUSP) is a list of conditions the federal government advises each state to include in their newborn screening program. The California NBS Program screens for all of the primary and secondary conditions on the RUSP, plus others. Krabbe disease will be added to California’s screening panel before July 1, 2026. You can see the full list of conditions on the NBS Program’s Detectable Disorders page.

The conditions screened in California fall into several categories:

Metabolic Conditions

Metabolic conditions affect the body’s ability to process proteins, fats, or sugars in food that support normal physical functions. Examples of these conditions include phenylketonuria (PKU), galactosemia, and adrenoleukodystrophy.

Endocrine Conditions

Babies with endocrine conditions make too much or too little of certain hormones. For example, primary congenital hypothyroidism (PCH) can cause severe mental disability due to a lack of thyroid hormone. Congenital adrenal hyperplasia (CAH) affects the adrenal glands and can be life-threatening in its most severe form.

Hemoglobin Conditions

Hemoglobin conditions are blood disorders that impair the ability of red blood cells to carry oxygen to vital organs and can lead to severe anemia. Many different types of hemoglobin conditions are screened for, including sickle cell disease and thalassemias.

Cystic Fibrosis (CF)

CF is a genetic condition that can cause chronic lung infections, poor function of the liver and pancreas, and malnutrition. Early treatment can help decrease some of these problems and increase life expectancy in affected individuals.

Severe Combined Immunodeficiency (SCID)

Babies with SCID are born with little or no immune system function. The immune system helps fight infections. Early treatment can help prevent life-threatening infections and early death.

Spinal Muscular Atrophy (SMA)

SMA is a genetic condition that results in muscle weakness and decreased muscle size (atrophy), which can cause breathing and swallowing difficulties. Early treatment can help prevent the most severe symptoms and early death.

What does the California Newborn Screening Program do?

The NBS Program is run by the Genetic Disease Screening Program of the California Department of Public Health. It is responsible for screening all babies born in the state for over 80 serious but treatable genetic or congenital conditions. It also refers affected individuals to timely follow-up care, including additional testing and treatment when needed.

Newborn screening identifies whether your baby has a higher risk for certain medical conditions. If the screening shows a greater chance for a condition, more testing will be needed to confirm if it is present.

The screening involves a simple process called the “heel stick” test. A healthcare provider takes a tiny sample of blood from your baby’s heel and places it on a special filter paper card. This card is dried and sent to one of the state’s newborn screening labs for testing. If the results suggest your baby might have a condition (called “screen-positive”), a state program coordinator will contact your baby’s pediatrician or primary care provider with instructions for what to do next.

The main goal of the NBS Program is to find conditions early so treatment can start right away, giving your baby the best chance for a healthy future. California law requires all babies to have this screening shortly after birth. (See Health and Safety Code section 125000 and Title 17 of the California Code of Regulations section 6501.)

Where does newborn screening happen?

All babies should receive newborn screening, whether they are born in a hospital, at home, or in a community birth setting.

If your baby is born at a hospital, the screening will happen before you take your baby home. Usually, health care providers perform the screening in your room or a newborn nursery area.

If your baby is born at home or in a community birth setting, screening should still happen. Midwives and other health care providers are required to collect the NBS blood sample and to educate families about the newborn screening process.

If you are planning to give birth at home or in a community birth setting, talk to your midwife or health care provider about newborn screening before your baby is born.

If my baby is delivered at home by a midwife, do they still need to have newborn screening?

Yes. California law (Health and Safety Code section 125000 and Title 17 of the California Code of Regulations section 6501) mandates that all babies born in the state be screened for serious but treatable genetic conditions soon after birth, regardless of where they are born. This includes babies born at home or in community birth settings. The law authorizes licensed midwives (LM), certified nurse midwives (CNM), registered nurses (RN), physician assistants (PA), pediatric nurse practitioners (PNP), physicians (MD), doctors of osteopathy (DO), and naturopathic doctors (ND) as “Out-of-Hospital Newborn Screening Providers” who may collect NBS blood samples and who are responsible for educating families about the importance and process of newborn screening.

These professionals are trained and certified to provide maternal care and assist with deliveries in alternative settings like private homes and clinics. Staff at healthcare entities such as clinics or independent laboratories can also collect newborn screening samples in these settings.

To learn more about this regulation, you can visit the California Code of Regulations section on Out-of-Hospital Newborn Screening Providers.

How many babies does the California Newborn Screening Program identify each year with a genetic or congenital condition?

Less than 0.2% of children born in California are diagnosed with one of the conditions screened for by the NBS program.

What if I don’t want my baby to get screened?

California law requires that every baby born in the state is screened for genetic conditions. (See Health and Safety Code section 125000 and Title 17 of the California Code of Regulations section 6501.) You can opt out of testing only if it is against your religious beliefs or practices. (Health and Safety Code section 125000 and Title 17 of the California Code of Regulations section 6501.2.) If you would like to refuse newborn screening for your baby, you must sign the test refusal section of the form, which explains that not having the test done can result in serious illness or permanent damage to your child and that you accept responsibility if this occurs.

What happens if the birth parent is unconscious or incapacitated when it’s time for a baby’s newborn screening?

If the birth parent is unconscious or unable to act after delivery, the hospital or healthcare facility where the baby was born is responsible for making sure the newborn screening is completed, as required by California law. For any legal concerns or questions, it’s recommended you speak directly with the healthcare facility or consult a legal advisor.

What happens to my baby’s blood sample after newborn screening?

Many states are legally required to store their newborn screening blood spot cards, which contain blood samples used to perform newborn screening. California is likewise legally required to store these cards and does so through the California Biobank Program, using barcodes only to ensure anonymity of the samples.

The NBS Program follows all federal and state privacy and research laws relating to these cards.

The blood spots may be used to improve the newborn screening program or to develop new screening tests for new conditions. They may also be used for studies about diseases in women and children.

You can learn more about the process by visiting the “What Happens to My Baby’s Blood Spots After Newborn Screening?” webpage.

Why does CDPH store blood spot cards and what are the benefits of storing them?

Blood spot cards are stored in the state’s Biobank after newborn screening is completed. Keeping these cards provides several important benefits:

Helping Families in the Future: The stored blood spots could be useful if your family or your baby’s doctor requested special testing that wasn’t part of standard newborn screening. If the blood spots are needed, parents must fill out a consent form (CDPH Form 4407: Consent for the Release of Dried Blood Specimen (PDF)) to allow the NBS Program to send the blood spot card to a doctor or lab.
Improving Screening Tests: The NBS Program uses stored blood spots to create new and better screening methods for conditions it already checks for and those not yet on the screening panel. Over the past 35 years, California’s panel has grown from checking for just three conditions to over 80. As science advances, more conditions will be added, giving more children the chance to get early treatment.
Supporting Research to Fight Disease: The NBS Program, working within the California Department of Public Health (CDPH), can approve the use of leftover blood spots for medical research. This research focuses on diseases that affect women and children, such as autism and childhood cancers.
Monitoring and Improving Screening Accuracy: The NBS Program also uses stored blood spots to review and improve its methods. Leftover blood spots help enhance laboratory testing processes, making the screening more accurate and reliable.

What if I don’t want my newborn’s blood spot card stored by CDPH?

You can request to have your baby’s blood spot card destroyed after the NBS screening process is completed. To do so, please complete the “Parent Request to Have Newborn Blood Specimen Card Destroyed (PDF)” form.

How are my baby’s and my own privacy protected?

For both you and your baby, privacy is protected by a federal law called the Health Insurance Portability and Accountability Act (HIPAA). HIPAA protects all “individually identifiable health information” held or transmitted by the Genetic Disease Screening Program (GDSP). HIPAA includes the “Privacy Rule,” which is intended to safeguard your Protected Health Information (PHI) by defining and limiting when it may be used or shared with others.

GDSP, which runs the newborn screening service in California, follows all HIPAA rules, which means that GDSP may not use or disclose PHI, except either: (1) as the Privacy Rule permits or requires; or (2) as the individual who is the subject of the information (or the individual’s personal representative) authorizes in writing. [See 45 C.F.R. §164.502(a).]

GDSP also provides families with a Notice of Privacy Practices (NPP) that informs individuals about their privacy rights regarding their health information, promotes transparency in how healthcare providers and plans handle the PHI, and enables individuals to make informed decisions about their healthcare and privacy to ensure compliance with HIPAA regulations. GDSP’s NPP explains how you or your baby’s personal information may be used and shared and how you can get access to your information. The NPP is included in the newborn screening brochure called “Screening Your Newborn: Important Information for Parents About Newborn Blood Spot Screening (PDF),” which you are legally entitled to receive from your prenatal care provider and the hospital/birth facility.

To ensure proper medical care, HIPAA and state laws do allow GDSP and its partners to share PHI when permitted or required for treatment, payment, or healthcare operations related to newborn screening, along with other permitted uses and disclosures as outlined by HIPAA. These uses are described in greater detail in the NPP and would not require special permission from parents.

Would law enforcement have access to my newborn’s blood spot card?

GDSP complies with applicable state and federal laws relating to access to biological specimens by law enforcement. Any court-issued subpoenas, court orders, or search warrants for specimens requested by law enforcement are referred to the CDPH Office of Legal Services for review and processing to ensure legal compliance.

You can learn more about the process by visiting the “What Happens to My Baby’s Blood Spots After Newborn Screening?” webpage.

Will I need to pay for my baby’s screening?

Medi-Cal and most other insurance companies cover the cost of newborn screening in California.

If your baby is born in a hospital and a blood sample is taken there, the cost is usually included in the hospital bill. If your baby is born at home, you will receive a notice from the NBS Program asking for insurance information. As a courtesy, CDPH will bill your insurance for you.

You can learn more by visiting our Payment and Billing FAQ.