Birth prevalence of disorders detectable through newborn screening by race/ethnicity

Abstract

ORIGINAL RESEARCH ARTICLEPurpose: The purpose of this study was to describe the birth prevalence of genetic disorders among different racial/ethnic groups through population-based newborn screening data. methods: Between 7 July 2005 and 6 July 2010 newborns in California were screened for selected metabolic, endocrine, hemoglobin, and cystic fibrosis disorders using a blood sample collected via heel stick. The race and ethnicity of each newborn was self-reported by the mother at the time of specimen collection.Results: Of 2,282,138 newborns screened, the overall disorder detection rate was 1 in 500 births. The disorder with the highest prevalence among all groups was primary congenital hypothyroidism (1 in 1,706 births). Birth prevalence for specific disorders varied widely among different racial/ethnic groups. conclusion:The California newborn screening data offer a unique opportunity to explore the birth prevalence of many genetic dis orders across a wide spectrum of racial/ethnicity classifications. The data demonstrate that racial/ethnic subgroups of the California newborn population have very different patterns of heritable disease expression. Determining the birth prevalence of these disorders in California is a first step to understanding the short-and long-term medical and treatment needs faced by affected communities, especially those groups that are impacted by more severe disorders. 2012:14(11):937-945 Genet Med

The First Results of Extended Newborn Screening in Slovakia—Differences between the Majority and the Roma Ethnic Group

“…Although these results are preliminary, they are roughly comparable with the results of the California study of the ethnic/racial differences in the prevalence of IEMs. Low or zero incidence of CF and CAH, and a contrasting high incidence of MCADD, SCADD, and CUD in the Slovak Roma population are both similar to California's findings in newborns from the Middle East and India [6]. Namely these regions are the provenance of the European Roma population [14,15].…”

“…The entire spectrum of IEMs complies with Wilson-Jungner eligibility criteria for NS, and many were already included in the regular NS of several European countries [4,5] and in US NS [6].…”

Damaged goods?: an empirical cohort study of blood specimens collected 12 to 23 hours after birth in newborn screening in California

“…These reports are collected from pediatricians, newborn screening coordinators, and clinicians at the specialty-care centers mentioned above for the various categories of screened disorders. 23 We used confirmed registry cases from 2006 to 2013 along with timing of blood specimen collection data in the Screening Information System for the false-negative analysis. (The only exception is the data from CF screening, which have been available since July 2007.)…”

Challenges for Worldwide Harmonization of Newborn Screening Programs

“…Thus, in Latin America, screening for IMDs detected by MS/MS (fatty acid oxidation disorders, amino acid disorders, and organic acid disorders) is often available only in the private sector (14 ). Another possible explanation is that certain disorders are not being screened in regions in which the disease is less prevalent (e.g., CF in Asia and Latin America, and BIO in Asian population) (37 ). The limitations of tests used for screening may be also an obstacle to reach consensus.…”