Newborn screening tests that check a baby’s blood for serious health conditions have made an unexpected discovery: sometimes these tests find that the mother has a health problem instead. Researchers reviewed 14 cases where mothers were diagnosed with metabolic disorders or vitamin deficiencies after their babies’ screening results came back unusual. These findings are important because they show that newborn screening programs can accidentally help identify health issues in mothers that might otherwise go undiagnosed. This review helps doctors understand what to look for and reminds us that sometimes medical tests designed for one purpose can reveal important health information about other family members.

The Quick Take

  • What they studied: Whether newborn screening blood tests can accidentally discover health problems in mothers, and what kinds of conditions have been found this way
  • Who participated: A review of 14 published case reports describing mothers who were diagnosed with metabolic disorders or vitamin deficiencies after their babies had abnormal newborn screening results
  • Key finding: Newborn screening programs have identified at least 14 different maternal health conditions, including metabolic disorders and vitamin deficiencies, that were discovered when babies’ test results were abnormal but the babies themselves were healthy or just carriers of a gene
  • What it means for you: If your baby’s newborn screening comes back with unusual results, doctors should consider testing you as well. This could lead to early diagnosis of a health condition you didn’t know you had. However, this is still relatively rare, and most abnormal newborn screening results indicate a problem with the baby, not the mother.

The Research Details

Researchers searched a medical database called PubMed for published reports of mothers who were diagnosed with health conditions through their babies’ newborn screening tests. They found 14 cases where this had happened and reviewed all the details from these published reports. This type of study is called a literature review—instead of doing their own experiment, they looked at what other doctors and researchers had already published and written about.

Newborn screening is a program where every baby born in the United States gets a blood test from their heel within the first few days of life. This test checks for serious genetic and metabolic conditions that can cause serious problems if not caught early. The test uses a machine called tandem mass spectrometry, which is very good at finding tiny amounts of different chemicals in the blood. When the test finds something unusual, doctors investigate further to see if the baby has a condition that needs treatment.

In some cases, when doctors investigated why a baby’s screening was abnormal, they discovered that the mother had a health condition instead. The researchers wanted to understand how often this happens and what kinds of conditions have been found this way.

This research matters because it shows that medical tests can have unexpected benefits beyond their original purpose. Understanding that newborn screening can sometimes identify maternal health problems helps doctors know what to look for and reminds them to consider the mother’s health when a baby’s test results are unusual. This information is especially useful for countries that are just starting newborn screening programs and for doctors who specialize in metabolic disorders.

This is a review of published case reports, which means it’s based on stories that other doctors have already written about and published. The strength of this type of study is that it brings together information from many different cases in one place. However, because these are individual case reports rather than large studies, we can’t know exactly how common this situation is. The researchers did a careful search of the medical literature, which makes their review more reliable. This type of study is good for understanding what can happen and what doctors should watch for, but it doesn’t tell us the exact risk or probability.

What the Results Show

The researchers identified 14 different cases where mothers were diagnosed with metabolic or genetic conditions through their babies’ newborn screening tests. These 14 maternal conditions included various metabolic disorders and vitamin deficiencies. In each of these cases, the baby either didn’t have the condition at all or was just a carrier of one copy of a gene (meaning they wouldn’t get sick from it).

The fact that 14 different maternal conditions have been found this way shows that this isn’t just a one-time accident—it’s something that can happen with several different types of health problems. The conditions found in mothers ranged from deficiencies in important vitamins to more complex metabolic disorders that affect how the body processes certain chemicals.

This discovery is important because it means that newborn screening programs, which were designed to find problems in babies, have an unexpected side benefit: they can sometimes catch serious health problems in mothers that might otherwise go undiagnosed. Many of these maternal conditions can be treated if caught early, so this accidental discovery could actually help mothers get the medical care they need.

The review highlights that when a baby’s newborn screening comes back abnormal, doctors need to think carefully about whether the problem is with the baby or with the mother. In the cases reviewed, the babies were either completely unaffected by the condition or were carriers of a gene without showing any symptoms. This pattern—where the baby’s test is abnormal but the baby is healthy—should make doctors consider testing the mother. The research also shows that this situation can happen with many different types of metabolic conditions, not just one or two specific diseases.

This review brings together information about maternal conditions found through newborn screening that had previously been scattered across different medical journals and case reports. By collecting all 14 cases in one place, it provides a more complete picture of how often and in what ways this happens. This helps doctors and researchers understand that this is a real phenomenon worth paying attention to, rather than just isolated coincidences.

The biggest limitation is that this review is based on published case reports, which means we only know about cases that doctors thought were important enough to write about and publish. There may be other cases that weren’t published, so we don’t know the true number of times this has happened. We also don’t know how common this situation is compared to the total number of newborn screening tests done. Because these are individual cases rather than a large study, we can’t calculate exact percentages or risks. Additionally, the review doesn’t provide detailed information about how each mother was diagnosed or what happened to them after diagnosis, since that information varies across the different published reports.

The Bottom Line

If your baby’s newborn screening test comes back with abnormal results, ask your doctor whether testing you (the mother) might be helpful. This is especially important if the baby appears healthy or if the doctor can’t find a clear explanation for the abnormal results in the baby. If you have a family history of metabolic disorders or vitamin deficiencies, mention this to your doctor. Confidence level: This recommendation is based on real cases that have been documented, but it’s still relatively uncommon, so don’t assume this applies to your situation without talking to your doctor.

Mothers who have had babies with abnormal newborn screening results should definitely pay attention to this information. Doctors and genetic counselors who work with newborn screening should be aware of this possibility. Healthcare providers in countries that are starting or expanding newborn screening programs should know about this. However, most people don’t need to worry about this—it’s still quite rare, and most abnormal newborn screening results indicate a problem with the baby that can be treated.

If a maternal condition is found through newborn screening, the timeline for seeing benefits depends on the specific condition and how quickly treatment starts. Some conditions can be managed with dietary changes or supplements that work relatively quickly. Others may require ongoing treatment. The important thing is that early diagnosis allows treatment to begin before the condition causes serious health problems.

Want to Apply This Research?

  • If you’ve been diagnosed with a metabolic condition through your baby’s newborn screening, track your treatment adherence (whether you’re taking supplements or following dietary recommendations) and any symptoms you experience. Log this weekly to monitor how well your treatment is working.
  • If you have a metabolic condition or vitamin deficiency identified through newborn screening, use the app to set reminders for taking supplements or medications, track your diet if dietary changes are recommended, and schedule regular follow-up appointments with your doctor to monitor your condition.
  • Set up monthly check-ins to review how you’re managing your condition. Track any changes in energy levels, symptoms, or lab test results. Share this information with your healthcare provider to ensure your treatment plan is working effectively.

This article reviews research about how newborn screening tests can sometimes identify health conditions in mothers. If your baby has had abnormal newborn screening results or if you’ve been diagnosed with a metabolic condition, please work with your healthcare provider or a genetic specialist for personalized medical advice. This information is educational and should not replace professional medical diagnosis or treatment. Always consult with your doctor before making any changes to your health care or treatment plan.