You were told your baby's newborn screening result was abnormal. Maybe the hospital said another heel-prick test was needed. Maybe you were told to speak with your pediatrician, schedule additional testing, or wait for someone to call.
Then the repeat test was not scheduled, no one called with instructions, or the result was not discussed at your baby's next visit.
Days or weeks later, your baby became ill, another test was finally performed, or doctors diagnosed a condition that the newborn screen had raised concern about shortly after birth.
For parents, that can create an urgent question: what was supposed to happen after the screening result came back?
In New Jersey, determining whether pediatric misdiagnosis may be involved can require looking at when the result became available, who received it, what follow-up was recommended, and whether a delay in acting on that information contributed to the child's injury or worsened the outcome.
What Does an Abnormal Newborn Screening Result Mean?
Newborn bloodspot screening is performed shortly after birth to identify babies who may be at risk for certain conditions before symptoms become obvious.
New Jersey requires babies born in the state to receive bloodspot screening within 24 to 48 hours after birth, and the state's current screening panel includes 61 disorders.
An abnormal or out-of-range result does not necessarily mean that a baby has one of those disorders.
Newborn screening is a screening tool, not a final diagnosis. A result may lead to another bloodspot specimen, diagnostic testing, or further medical evaluation depending on the finding and the baby's circumstances.
That distinction matters. An abnormal screen should not be treated as a definitive diagnosis. But it also should not be dismissed simply because additional testing is needed to determine what the result means.
What Should Happen After an Abnormal Result in New Jersey?
New Jersey's newborn screening system includes more than collecting blood from a baby's heel.
It also includes communicating results and connecting babies with appropriate follow-up care.
According to the New Jersey Department of Health, abnormal newborn bloodspot results are sent to the hospital where the baby was born and to the primary care provider identified on the screening kit.
The state also tells pediatricians that they are responsible for promptly following up on screening results, sharing those results with parents, and arranging diagnostic testing and appropriate care when a result is abnormal or out of range.
The specific next step can vary depending on why follow-up was requested. A baby may need a repeat bloodspot specimen because the first sample was collected too early, was unsatisfactory, or produced a result requiring additional screening. Depending on the finding, an out-of-range result may also lead to repeat screening, diagnostic testing, or evaluation by a specialist.
NJDOH advises parents that when repeat screening is recommended, it should be arranged as soon as possible.
Where Can the Follow-Up Process Break Down?
Sometimes the concern is not whether the newborn screening was performed. It is what happened after the result became available.
For example, the state laboratory sends an out-of-range result to the hospital and the primary care provider listed on the screening paperwork. But the family may have changed pediatricians after discharge, the recommended repeat specimen may never be scheduled, or the parents may be told that someone will call without receiving clear instructions about where or when the follow-up testing should occur.
Not every delay means that someone was negligent. The important questions are who had the information, what the result required, and what happened next.
The Pediatric Malpractice & Birth Injury Resource Center provides information for families trying to understand how communication and follow-up problems may be evaluated when a child's medical care raises unanswered questions.
When Can Delayed Follow-Up Raise Questions About Pediatric Malpractice?
An abnormal newborn screen alone does not establish pediatric malpractice.
Nor does a later diagnosis necessarily mean that the condition should have been definitively diagnosed from the screening result itself.
The question is whether the medical providers responsible for the baby's care responded appropriately to the information available at the time.
Closer review may be warranted when an abnormal result requiring repeat or diagnostic testing was received but not communicated, when recommended testing was not arranged, or when responsibility for follow-up became unclear during the transition from the birth hospital to outpatient pediatric care.
A malpractice review also has to consider causation. Even if follow-up should have occurred sooner, the legal question includes whether the delay postponed diagnosis or treatment in a way that contributed to the child's injury or worsened the outcome.
Why the Timing of the Result and Follow-Up Matters
The timeline can help show where the process broke down.
Suppose a baby's screen was performed two days after birth. An out-of-range result was reported several days later. The family attended a newborn visit but was not told about the result. Two weeks later, the baby developed symptoms and diagnostic testing identified the condition.
A review would need to look at when the laboratory reported the result, which providers received it, what the result recommended, what was documented during the pediatric visit, and when appropriate testing or treatment ultimately occurred.
The fact that time passed does not establish malpractice by itself. But reconstructing that sequence can show whether the delay happened before anyone could reasonably have acted or after information requiring follow-up was already available.
What Records Can Help Explain What Happened?
Parents may not have received a copy of the original newborn screening report.
In New Jersey, parents are directed to obtain newborn bloodspot screening results through their baby's primary care provider rather than directly from the state laboratory.
Other useful records can include the birth-hospital chart, discharge paperwork, pediatric office records, repeat bloodspot orders and results, laboratory communications, portal messages, specialist records, and records from any later hospitalization.
Parents can also write down what they remember being told: who discussed the screening, whether a repeat test was mentioned, which pediatrician was identified after discharge, and when they first learned that the result required additional follow-up.
Together, those records can help establish what information moved through the system—and where communication may have stopped.
What Should Parents Do If Follow-Up Has Not Happened?
If you have been told that your baby's newborn screening needs to be repeated or requires additional testing, contact your baby's medical provider rather than waiting for the issue to resolve on its own.
The New Jersey newborn screening program specifically encourages parents to obtain their baby's results and arrange recommended repeat testing as soon as possible.
If your baby is ill or you are concerned about new symptoms, seek appropriate medical care. A newborn screening result does not replace an individualized medical evaluation, and even a normal screen cannot rule out every possible medical condition.
How NJ Pediatric Malpractice Attorneys Can Help Review a Delayed Follow-Up
When a baby is seriously harmed after an abnormal newborn screening result was not followed up promptly, parents may be left trying to determine who received the result and why the recommended next step did not occur.
NJ pediatric malpractice attorneys can obtain and compare hospital, pediatric, laboratory, and specialist records to reconstruct that timeline. When appropriate, they can also consult qualified medical professionals about what follow-up was medically indicated by the result, whether the care met the applicable standard of care, and whether a delay contributed to the child's injury.
The purpose of that review is not to assume that every abnormal newborn screen should have led immediately to a diagnosis. It is to determine whether important information was communicated and acted upon appropriately while there was still an opportunity to provide timely diagnostic care.
If your child suffered significant harm after an abnormal newborn screening result was not followed up, Fronzuto Law Group can help you understand what records matter and whether the circumstances warrant further investigation. You can use the contact form to request a review of your child's care.
Disclaimer: The articles on this blog are for informational purposes only, do not constitute legal advice, and do not create an attorney-client relationship. If you are seeking legal advice, please contact our law firm directly.