# Spanish consensus on managing pregnancy in women with Gaucher disease

## TL;DR

This paper presents a Spanish consensus guide for managing pregnancy in women with Gaucher disease, combining available evidence and expert opinions.

## Contribution

The novel contribution is a structured consensus-based guide for managing Gaucher disease during pregnancy, childbirth, and postpartum.

## Key findings

- Nine recommendations were developed for pre-pregnancy and genetic counseling.
- Seven recommendations focused on pregnancy management and eight on post-delivery and breastfeeding.
- The guide integrates GRADE methodology and patient values to standardize care.

## Abstract

Gaucher disease can have effects on the development of pregnancy, childbirth, and lactation, with impact on health of both the mother and the newborn. Management of pregnancies in Gaucher patients is further complicated by using of enzyme replacement therapy. Unfortunately, the available scientific evidence is not conclusive because there are not proper clinical trials on this issue. The aim of this work was to establish a management guide to address the main clinical problems before, during and after pregnancy and to provide key information to healthcare professionals, patients, and families. GRADE methodology to evaluate the quality of scientific evidence and develop recommendations was incorporated to elaborate this guide. For final recommendations, a structured consensus 2-round process was carried out using the Delphi method with a Gaucher expert panel. After this process, nine recommendations were elaborated related to pre-pregnant status and genetic counseling and for management during pregnancy, seven related to childbirth, and eight focused on management after delivery and breastfeeding. Regarding the quality of the evidence, values and preferences of patients were also considered. A consensus guide to define and standardize pregnancy management in Gaucher disease considering the best available evidence, complemented by experts’ opinions, could be a relevant tool to help patients, nurses, midwives and physicians with little experience in Gaucher disease who do not have access to guidance from Gaucher disease treatment centers of excellence.