TY - JOUR
T1 - Fragile X newborn screening
T2 - Lessons learned from a multisite screening study
AU - Bailey, Donald B.
AU - Berry-Kravis, Elizabeth
AU - Gane, Louise W.
AU - Guarda, Sonia
AU - Hagerman, Randi J
AU - Powell, Cynthia M.
AU - Tassone, Flora
AU - Wheeler, Anne
PY - 2017/6/1
Y1 - 2017/6/1
N2 - Background: Delays in the diagnosis of children with fragile X syndrome (FXS) suggest the possibility of newborn screening as a way to identify children earlier. However, FXS does not have a proven treatment that must be provided early, and ethical concerns have been raised about the detection of infants who are carriers. This article summarizes major findings from a multisite, prospective, longitudinal pilot screening study. Methods: Investigators in North Carolina, California, and Illinois collaborated on a study in which voluntary screening for FXS was offered to parents in 3 birthing hospitals. FXS newborn screening was offered to >28 000 families to assess public acceptance and determine whether identification of babies resulted in any measurable harms or adverse events. Secondary goals were to determine the prevalence of FMR1 carrier gene expansions, study the consent process, and describe early development and behavior of identified children. Results: A number of publications have resulted from the project. This article summarizes 10 "lessons learned" about the consent process, reasons for accepting and declining screening, development and evaluation of a decision aid, prevalence of carriers, father participation in consent, family follow-up, and maternal reactions to screening. Conclusions: The project documented public acceptance of screening as well as the challenges inherent in obtaining consent in the hospital shortly after birth. Collectively, the study provides answers to a number of questions that now set the stage for a next generation of research to determine the benefits of earlier identification for children and families.
AB - Background: Delays in the diagnosis of children with fragile X syndrome (FXS) suggest the possibility of newborn screening as a way to identify children earlier. However, FXS does not have a proven treatment that must be provided early, and ethical concerns have been raised about the detection of infants who are carriers. This article summarizes major findings from a multisite, prospective, longitudinal pilot screening study. Methods: Investigators in North Carolina, California, and Illinois collaborated on a study in which voluntary screening for FXS was offered to parents in 3 birthing hospitals. FXS newborn screening was offered to >28 000 families to assess public acceptance and determine whether identification of babies resulted in any measurable harms or adverse events. Secondary goals were to determine the prevalence of FMR1 carrier gene expansions, study the consent process, and describe early development and behavior of identified children. Results: A number of publications have resulted from the project. This article summarizes 10 "lessons learned" about the consent process, reasons for accepting and declining screening, development and evaluation of a decision aid, prevalence of carriers, father participation in consent, family follow-up, and maternal reactions to screening. Conclusions: The project documented public acceptance of screening as well as the challenges inherent in obtaining consent in the hospital shortly after birth. Collectively, the study provides answers to a number of questions that now set the stage for a next generation of research to determine the benefits of earlier identification for children and families.
UR - http://www.scopus.com/inward/record.url?scp=85020211375&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85020211375&partnerID=8YFLogxK
U2 - 10.1542/peds.2016-1159H
DO - 10.1542/peds.2016-1159H
M3 - Article
C2 - 28814542
AN - SCOPUS:85020211375
VL - 139
SP - S216-S225
JO - Pediatrics
JF - Pediatrics
SN - 0031-4005
ER -