Early Identification of Fragile X Syndrome through Expanded Newborn Screening

Abstract

Over the past 20 years, research on fragile X syndrome (FXS) has provided foundational understanding of the complex experiences of affected individuals and their families. Despite this intensive focus, there has been little progress on earlier identification, with the average age of diagnosis being 3 years. For intervention and treatment approaches to have the greatest impact, they need to begin shortly after birth. To access this critical timespan, differential methods of earlier identification need to be considered, with an emerging focus on newborn screening practices. Currently, barriers exist that prevent the inclusion of FXS on standard newborn screening panels. To address these barriers, an innovative program is being implemented in North Carolina to offer voluntary screening for FXS under a research protocol, called Early Check. This program addresses the difficulties observed in prior pilot studies, such as recruitment, enrollment, lab testing, and follow-up. Early Check provides an opportunity for stakeholders and the research community to continue to gain valuable information about the feasibility and greater impact of newborn screening on the FXS population.

White matter as a monitoring biomarker for neurodevelopmental disorder intervention studies

“…This timeline is even more prolonged for females with FXS who tend to be less severely affected. There is a new population screening program being implemented in North Carolina that includes voluntary genetic screening for FXS [85]. These programs may reduce drastically lower the age of diagnoses for young children with FXS and make infant intervention feasible.…”

Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center

“…Newborn screening (NBS) for FXS is one of the proposed solutions for early identification and intervention (Okoniewski et al, 2019 ). Our screening model allows for FXS carrier screening for the fetuses, partially playing a role of NBS.…”

“…Currently, there is no cure or effective treatment for FXS (Hagerman et al, 2017 ). But early identification of FXS has been suggested considering the potential benefits of early intervention for the affected individuals (Okoniewski et al, 2019 ). Due to the complex inheritance patterns and wide range of phenotypes associated with FXS, genetic counseling on risk assessment and prognosis prediction for FXS is challenging.…”

Attitudes toward population screening among people living with fragile X syndrome in the UK: ‘I wouldn’t wish him away, I’d just wish his fragile X syndrome away’

“…Screening policies for fragile X syndrome vary internationally. Pilot studies have been conducted with women of reproductive age (Archibald et al., 2009; Metcalfe et al., 2008), pregnant women (Cronister et al., 2005; Hung et al., 2019) and newborn babies (Okoniewski et al., 2019; Saul et al., 2008). However, the lack of curative treatment proves a barrier to screening implementation in many countries.…”