Maternal metabolic conditions identified by newborn screening

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.