Information on reproductive options, family screening and genetic aspects for those planning to start a family.
If you or your partner are carriers or are affected by Pompe, there are options for family planning:
• **Prenatal diagnosis**: Genetic analysis of the fetus via amniocentesis or chorionic villus sampling
• **Preimplantation genetic diagnosis (PGD)**: Selection of unaffected embryos during in vitro fertilization
• **Carrier screening**: Genetic testing of the couple before conception
• **Gamete donation**: In some cases this may be an option
A genetic counselor can inform you about the available options and support you in decision-making.
Newborn screening for Pompe is being progressively implemented in various countries and regions. It enables:
• Detection of the disease in newborns before symptoms appear
• Early initiation of treatment, which significantly improves prognosis
• Identification of severe infantile forms that require urgent treatment
Check with your reference center or patient association whether newborn screening is available in your area.
A Pompe diagnosis affects the entire family:
• **Siblings**: Should be informed and offered screening
• **Children of patients**: They are obligate carriers; if the partner is also a carrier, there is a risk of disease
• **Parents**: They are usually carriers; feelings of guilt may affect them
Psychological support for the whole family is important. Patient associations organize meetings that can help share experiences.
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