Is Nbs The Same For All Babies In The Us
Even though every state in the U.S. requires NBS, each state manages its own NBS program. This means that NBS can be a little different in each state.
For example, some states may give parents different options during screening, have different NBS costs, or look for different conditions during screening. It is important to be familiar with how NBS works in your state.
To learn about NBS in your state, visit the State pages.
What Is The Purpose Of Newborn Screening
The purpose of newborn screening is to detect potentially fatal or disabling conditions in newborns as early as possible, often before the infant displays any signs or symptoms of a disease or condition. Such early detection allows treatment to begin immediately, which reduces or even eliminates the effects of the condition. Many of the conditions detectable in newborn screening, if left untreated, have serious symptoms and effects, such as lifelong nervous system damage intellectual, developmental, and physical disabilities and even death.
The Advisory Committee on Heritable Disorders in Newborns and Children , formerly the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children, is the federal government committee charged with reducing morbidity and mortality in newborns and children who have or are at risk for heritable disorders such as sickle cell anemia, cystic fibrosis, and hearing impairment.
The committee also advises the HHS Secretary on the most appropriate application of universal newborn screening tests, technologies, policies, guidelines, and standards. Specifically, the committee provides to the Secretary the following:
Babys First Test and Babys First Test en Español provide a complete list of conditions included in the newborn screening programs for each U.S. state and information about each condition.
Cystic Fibrosis Screening Laboratory Handbook
This publication is licensed under the terms of the Open Government Licence v3.0 except where otherwise stated. To view this licence, visit nationalarchives.gov.uk/doc/open-government-licence/version/3 or write to the Information Policy Team, The National Archives, Kew, London TW9 4DU, or email: .
Where we have identified any third party copyright information you will need to obtain permission from the copyright holders concerned.
This publication is available at https://www.gov.uk/government/publications/cystic-fibrosis-screening-laboratory-handbook/cystic-fibrosis-screening-laboratory-handbook
This handbook is for laboratories that provide an NHS newborn blood spot screening service for cystic fibrosis in the UK. It defines a framework for the pre-analytical, analytical and post-analytical steps in the newborn screening process to:
- support newborn screening laboratories to provide the screening service
- improve consistency across the screening programme
- provide guidance on achieving good quality by application of standards and audit
Use this handbook alongside other NBS screening programme guidance.
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What Does It Mean If The Screen Is Positive And What Happens Next
A positive screen means that there might be a problem. It does not mean that your baby has one of these disorders, but it is possible.Your baby will need more tests to find out for sure.
If your baby has one of these conditions, early detection will help your baby get effective treatment as soon as possible. You will be referred to a doctor with experience in treating these disorders.
What If I Go Home With My Baby Less Than 24 Hours After Birth
A blood sample will still be taken in the hospital before leaving. Screening detects over 80% of disorders at even less than 24 hours of age. Early detection is important if your child has one of these disorders. You will get instructions on how to have the sample repeated within 2 weeks. The purpose of the second sample is to double check the few disorders that can be missed on the first screen.
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How Does Nbs Happen
Newborn screening has three different parts:
Newborn Screening And Adoption
For international adoptions, some adoption agencies may be able to arrange overseas newborn screening during the pre-adoption period with the consent of the infants legal guardian. For children adopted from the United States, most states recommend that contact information for the adoptive parents, adoption agency, or lawyer be included on the newborn screening card, rather than that of the birth mother. This will allow timely follow-up with the childs caregivers in the event of an abnormal test result.
Adopted children who are born at home, in independent clinics or in other countries may not have had newborn screening, or their results may be unavailable. If results cannot be confirmed during the initial medical assessment of an adopted infant, screening should be done promptly. Clinical testing may be more appropriate than newborn screening for adopted children older than one year of age and for children whose medical history suggests they have a health condition.
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Scientific Background To The Screening Protocol
Newborn screening for CF is founded on the work of Crossley and others , who showed that IRT in blood is significantly increased in affected newborns. Screening programmes based on IRT measurement from a dried bloodspot sample were introduced in East Anglia in 1980 and subsequently elsewhere in the UK. A raised IRT level is sensitive for identifying CF but has poor positive predictive value and therefore CF programmes require a second tier test to improve PPV. In early programmes, this was traditionally IRT in a second blood sample collected at 2 to 4 weeks of age. A 2-stageIRT procedure has the disadvantage of requiring a relatively high number of second samples, which increase the anxiety generated by screening, and the presumptive diagnosis is made relatively late.
Once the CFTR gene was identified in 1989, the option of genetic analysis became possible to replace the second-tier IRT assay. Initially, in 1990, only the most common CFTR variant, F508 was used, but more recently panels with a larger number of CFTR gene variants have been used globally.
Over 2000 variants have been identified associated with CF and around 400 occur at sufficient frequency to determine their characterisation .
Repeat Samples And Positive Results
Sometimes, the laboratory may need a repeat blood sample if the first sample:
- Was collected too early
- Was contaminated
- Produced an unclear result.
Dont be concerned if a repeat sample is required, as most repeat screening results are normal.
If your baby has a positive screening result , you will be contacted and referred to a specialist for further testing. Positive screens are usually confirmed by testing a sample of urine or blood.
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When Does The Screen Happen
The blood test is generally performed when a baby is 24 to 48 hours old. This timing is important because certain conditions may go undetected if the blood sample is drawn before 24 hours of age. If the blood is drawn after 48 hours of age, there could be a life-threatening delay in providing care to an infant that has the condition. Some states require babies to undergo a second newborn screen when they are two weeks old. This precaution ensures that parents and health professionals have the most accurate results.
Ideally, the newborn hearing screen should be performed before the baby leaves the hospital.
How Are Screening Costs Covered
Newborn screening test costs vary by state because individual states finance their newborn screening programs in different ways. Most states collect a fee for screening, but health insurance or other programs often cover all or part of it. Babies will receive newborn screening regardless of health insurance status. For more information regarding the cost of newborn screening in your state, contact your states newborn screening coordinator. Find the contact info for your state coordinator by searching for your state here.
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Can I Refuse To Have Newborn Bloodspot Screening
While newborn bloodspot screening is strongly recommended for all babies, participation is voluntary. The benefits of screening however, could be life-changing. Unscreened babies with a particular condition could suffer permanent disability or die suddenly. If you have any concerns about screening, speak to your midwife or doctor. If you choose not to have screening, you will be asked to sign a form acknowledging your choice.
Newborn Blood Spot Failsafe Solution
The NBSFS is an IT system that identifies babies born in England who have missed NBS screening. It is in use by all maternity units across England. The system also records repeat requests and screening outcomes to support failsafe processes.
The NBSFS user guide and NBSFS operational level agreements provide more information about how to use the failsafe system.
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Sample Requirements Identity And Transport
There is no requirement for a measured amount of blood, so the residual blood from a spot that has already had a disc punched out is likely to be sufficient.
There must be a tracking system to ensure that dried blood spot samples sent for genetic analysis are identified unequivocally. The card should not normally leave the screening laboratory.
Samples must be securely identified. The simplest method is to cut an irregularly shaped strip from the blood spot card , and on the blank section of the strip write patient identifiers including at least 2 from the babys date of birth, surname and NHS number. The irregularly shaped strip can then be matched with the card if subsequently required. With increasing automation and an electronic IT system, a bar-code sample identifier is desirable.
Appropriate timely transport arrangements to the genomics laboratory must be organised and the laboratory made aware of the imminent arrival of a screening specimen. Sample receipt by the genomic laboratory should be acknowledged back to the screening laboratory.
Does My Baby Have To Have The Blood Spot Test
The blood spot test is not compulsory, but it’s recommended because it could save your baby’s life.
You can choose to have screening for sickle cell disease, cystic fibrosis or congenital hypothyroidism individually, but you can only choose to have screening for all 6 inherited metabolic diseases or none at all.
If you don’t want your baby to be screened for any of these conditions, discuss it with your midwife.
You should be given information about the blood spot test and the diseases it screens for in advance so you can make an informed decision for your baby.
If you change your mind, babies can be screened up to the age of 12 months for all the conditions except cystic fibrosis. Cystic fibrosis can only be screened for up to 8 weeks of age.
If you have any concerns about the tests, speak to your midwife, health visitor or GP.
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When Will We Get The Results
You should receive the results either by letter or from a healthcare professional by the time your baby is 6 to 8 weeks old.
The results should be recorded in your baby’s personal child health record . It’s important to keep this safe and take it with you to all your baby’s appointments.
If you haven’t received your baby’s results, speak to your health visitor or GP.
You’ll be contacted sooner if your baby screens positive. This means they’re more likely to have one of the conditions tested for.
You’ll be contacted:
- the day the result is available, or the next working day, if your baby is thought to have congenital hypothyroidism you’ll be given an appointment to see a specialist
- before your baby’s 4 weeks old if they’re thought to have cystic fibrosis
- before your baby’s 6 weeks old if they’re thought to have sickle cell disease
Screening for cystic fibrosis finds some babies who may be genetic carriers of the condition. These babies may need further testing.
Screening for sickle cell disease also finds babies who are carriers of this or other red blood cell diseases.
Carriers are healthy, although they can experience problems in situations where their bodies aren’t getting much oxygen for example, if they’re having an anaesthetic.
Parents of babies who are found to be carriers should be told by the time they’re 6 to 8 weeks old.
Before Newborn Screening: Questions To Ask
Many parents have questions about NBS. Following is a list of questions that you may want to ask your health care provider or your babys health care provider before your babys birth, before your babys screening, or while your baby is being screened.
- Will I need to ask for my baby to be screened?
- When does NBS happen?
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Newborn Screening For Preterm Low Birth Weight Nicu Or Sick Newborns
Babies born preterm, sick or with a low birth weight often have certain medical problems that require special treatments. These treatments or procedures can affect the newborn screening results. These infants may require a special process for newborn screening. For example, many preterm, sick or low birth weight infants require more than one blood draw throughout their hospital stay to ensure accurate testing. To find out more about your hospitals protocol, speak with your obstetrician or the babys doctor.
Newborn Screen Test Collection
The Newborn Screen is a test performed on the blood of newborn babies todetect congenital and metabolic disorders. It may be performed on older children.Newborn Screen card preparation:
1. Information requested on the Newborn Screen card must be completed by thenursing unit, or the Out Patient Laboratory registrars. Refer to ACH NewbornScreen Specimen Criteria and Tracking Procedure for instructions.
2. Do not touch the area within the circles on the filter paper.Specimen requirement:
1. Collect the specimen by capillary technique – heel for infants, finger for children.Blood collection:
1. Chlorascrub must be dried from the heel or finger prior to puncture. Use powderfreegloves. Chlorascrub residue and powder may adversely affect the testresults.
2. Obtain a large drop of blood. Touch the drop of blood directly from the heel orfinger to the preprinted circle on the filter paper.
The use of capillary or microtainer tubes to fill the circles is not allowed.
Plastic collecting caps from microtainers may be used to collect blood and to then dispense blood onto the circles. Several fresh caps must be used during collection to avoid clotting.
Touch the blood, not the cap, to the filter paper. Caps and tubes scratch the paper.
Filling the circles on the filter paper:
1. Allow the blood to completely saturate the area within each circle. Examine bothsides to ensure the blood has saturated through the filter paper.
3. Apply blood to only one side of the filter paper.
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Previously Screened Babies Where Subsequent Results Differ
A raised IRT cut-off A on a sample taken after day 21 where there is a previous CF not suspected result should be dealt with as described in the following situations.
Discrepant IRT result
Suspect contamination and request a further repeat if there is sufficient time to obtain a specimen up to and including day 56. See section 2.1 above.
Non-discrepant IRT result cut-off A with previous IRT< cut-off B and CF not suspected reported
Send for genetic analysis. Subsequent action depends on the results of the genetic analysis. If:
- one or more CFTR variant is detected, refer and report as CF suspected
- no CFTR variants are detected , request a repeat sample
- no CFTR variants are detected , refer and report as CF suspected
Non-discrepant IRT result cut-off A with previous IRT cut-off B, no CFTR variants detected, and CF not suspected reported
This shows a persistently raised IRT. Refer and report as CF suspected.