Related Experiment Video
Updated: Sep 8, 2025
One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
Maternal metabolic conditions identified by newborn screening
Rebecca Sponberg1, Rebekah Barrick1, Kathryn Gasperian1
1Children's Health of Orange County (CHOC), part of Rady Children's Health, Orange, CA, USA.
Insights
Newborn screening (NBS) can identify maternal conditions, preventing serious health issues for infants. This review highlights 14 maternal conditions discovered through NBS, aiding future screening programs.
Area of Science:
- Biochemistry
- Genetics
- Public Health
Background:
- Newborn screening (NBS) is a vital public health initiative for early detection of treatable infant disorders.
- Expanded NBS using tandem mass spectrometry has increased the detection of inborn errors of metabolism (IEM).
- Case reports revealed maternal IEM or vitamin deficiencies influencing infant NBS results.
Purpose of the Study:
- To review maternal conditions identified through NBS.
- To define "maternal condition" in the context of NBS.
- To provide insights for countries implementing expanded NBS.
Main Methods:
- Conducted a PubMed literature search.
- Identified and reviewed case reports of maternal conditions linked to abnormal NBS results.
- Focused on conditions where the mother is affected and the child is unaffected or a carrier.
Main Results:
- Identified 14 distinct maternal conditions diagnosed via NBS.
- Detailed the biochemical and genetic findings for these maternal conditions.
- Confirmed that maternal conditions can manifest through abnormal infant NBS results.
Conclusions:
- NBS can serve as a crucial tool for identifying previously undiagnosed maternal conditions.
- This review offers valuable information for metabolic providers and countries developing NBS programs.
- Early identification of maternal conditions through NBS can prevent adverse outcomes for both mother and child.
Abstract:
Newborn screening is one of the most successful public health programs that has improved outcomes for children with conditions that can cause long-term disability or even death if not treated quickly. With the introduction of expanded newborn screening (NBS) and the use of tandem mass spectrometry, the number of core and secondary conditions recommended on the United States national NBS guideline called the Recommended Uniform Screening Panel (RUSP), rapidly grew to help screen for inborn errors of metabolism (IEM) [1]. A few years after this initiation and as more newborns were screened, there were several case reports of mothers who were diagnosed with an IEM condition or vitamin deficiency that was causing their child's abnormal newborn screening results. We conducted a PubMed literature search and identified reports of 14 maternal conditions identified via NBS and provide a comprehensive review of their findings. We define a maternal condition as biochemical or genetic findings that confirm the mother has the condition and the child is unaffected or an obligate carrier. This review could be useful for countries that plan to initiate expanded newborn screening in the future as well as for metabolic providers, who are involved in the confirmatory testing process for newborn screening referrals.
Related Concept Videos
01:20Inborn Errors of Metabolism
01:20Pathophysiology of Diabetes
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
01:27Glucose Transporters
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
01:22Diabetes Mellitus: Type 2 and Gestational