Family Planning and Screening

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

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.

Impact on the family

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.