A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism

Abstract

Advances in an early diagnosis by expanded newborn screening (NBS) have been achieved mainly in developed countries, while populations of middle- and low-income countries have poor access, leading to disparities. Expanded NBS in Mexico is not mandatory. Herein, we present an overview of the differences and unmet NBS needs of a group of Mexican patients with inborn errors of intermediary metabolism (IEiM), emphasizing the odyssey experienced to reach a diagnosis. We conducted a retrospective observational study of a historical cohort of patients with IEiM from a national reference center. A total of 924 patients with IEiM were included. Although 72.5% of the diseases identified are detectable by expanded NBS, only 35.4% of the patients were screened. The mortality in the unscreened group was almost two-fold higher than that in the screened group. Patients experienced a median diagnostic delay of 4 months, which is unacceptably long considering that to prevent disability and death, these disorders must be treated in the first days of life. Patients had to travel long distances to our reference center, contributing to their unacceptable diagnostic odyssey. This study highlights the urgent need to have an updated, expanded NBS program with adequate follow up in Mexico and promote the creation of regional medical care centers. We also provide compelling evidence that could prove valuable to decision makers overseeing public health initiatives for individuals impacted by IEiM from middle- and low-income countries.

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

“…Mexico —The Mexican health system has recently been detailed including the history/process of overcoming some of the institutional, organizational, and resource barriers to establishing NBS [ 1227 , 1228 ]. A review of NBS also exists [ 1229 ], along with a review of over 33 years of outcomes in a group of Mexican patients with inborn errors of intermediary metabolism focusing on disparities and unmet needs [ 1230 ]. NBS in Mexico was one of the earlier NBS programs in LATAM, beginning in 1973 but paused from 1977 until 1986.…”

Newborn screening in Mexico and Latin America: present and future

“…The estimated coverage of basic NBS in Mexico was about 84% in 2018 [1] ; however, a major disruption and suspension of NBS occurred in 2019 due to problems with the Ministry of Health contracting in twelve Mexican states. Although only newborns born in hospitals and medical units around the country are screened, the uptake for institutional births is high in Mexico (> 90%), but this varies among states [12] , with a…”