Maternal metabolic conditions identified by newborn screening

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.