Neonatal Filaggrin Genetic Screening and Counseling to Prevent Atopic Dermatitis in High-Risk Infants

Han-Ying Chen; Chih-Ling Chen; Yu-Hui Wu; Tze-Kang Lin; Yi-Ning Su; Yue-Liang Guo; Shin-Yu Lin; Chien-Nan Lee

doi:10.1089/derm.2023.0233

Neonatal Filaggrin Genetic Screening and Counseling to Prevent Atopic Dermatitis in High-Risk Infants

Dermatitis. 2024 Apr 2. doi: 10.1089/derm.2023.0233. Online ahead of print.

Authors

Han-Ying Chen^{1

2}, Chih-Ling Chen³, Yu-Hui Wu⁴, Tze-Kang Lin^{5

6}, Yi-Ning Su^{7

6}, Yue-Liang Guo⁸, Shin-Yu Lin¹, Chien-Nan Lee¹

Affiliations

¹ From the Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan.
² Program for Precision Health and Intelligent Medicine, Graduate School of Advanced Technology, National Taiwan University, Taipei, Taiwan.
³ Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
⁴ Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.
⁵ Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.
⁶ Sofiva Genomics Co., Ltd., Taipei, Taiwan.
⁷ Dianthus Maternal Fetal Medicine Clinic, Taipei, Taiwan.
⁸ Department of Environment and Occupational Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.

PMID: 38563786
DOI: 10.1089/derm.2023.0233

Abstract

Background: Mutations in filaggrin (FLG), the gene that codes for the skin barrier protein, have been shown to be associated with atopic dermatitis (AD). Objective: The objectives of this study were to determine the effects of genetic counseling and parental education on infants at a high risk of AD. Methods: We enrolled 7521 newborns in Taiwan from January 1, 2016, to March 30, 2020, and all of them received genetic testing encompassing 20 known FLG mutations. The genetic counseling and AD prevention and care team consisted of pediatricians, dermatologists, social workers, and genetic counselors. The counseling was arranged for at least 30 minutes within 45 days after delivery. Results: A total of 2963 high-risk infants (39.4%) were identified. Homozygous c.1432C>T was the most commonly identified mutation. A total of 418 neonates' parents were stratified into counseling and noncounseling groups, where the effect of parental education was evaluated. The genetically stratified parental education program was effective in preventing AD development by 63.3% in high-risk infants before 12 months of life (P < 0.0001). Conclusion: Genetic stratification and parental education are effective in preventing the development of AD in high-risk infants before 12 months of life.