Feasibility of an evidence-based multidisciplinary care framework in a Pompe disease carrier pregnancy ‒ a case report

Abstract

Introduction and aim. Pompe disease-carrier pregnancies present complex management challenges that require integrated genetic, biochemical, and psychosocial interventions. The current literature lacks comprehensive management frameworks that address the multifaceted needs of these high-risk pregnancies.

Description of the case. We report the treatment of a 31-year-old South Asian woman with three previous pregnancies affected by Pompe disease using a systematic multidisciplinary protocol developed following the current European Reference Network guidelines. Both partners were compound heterozygous carriers with documented pathogenic variants. The protocol integrated early genetic diagnosis through sampling of the chorionic villus, systematic biochemical monitoring, structured psychological support, and coordinated multidisciplinary care involving eight specialist services. Maternal psychological scores showed substantial improvement with the Edinburgh Postnatal Depression Scale decreasing from 14 to 2 (86% improvement) and the Generalized Anxiety Disorder Scale decreasing from 12 to 1 (92% improvement) after protocol-based psychological support without concurrent medication or therapy. Six-month follow-up confirmed sustained clinical and psychological benefits with normal infant development.

Conclusion. This case demonstrates the feasibility of implementing a systematic multidisciplinary care framework for Pompe disease-carrier pregnancy. Although preliminary results are encouraging, validation through larger cohort studies is necessary before widespread implementation, considering resource availability, genetic diversity, and cultural factors that may influence reproducibility in different healthcare settings.