Pregnancy course and birth outcome in patients with adult onset glycogenosis type II

Aims: The obstetric risk in adult onset glycogenosis type II (Pompe disease), a skeletal muscle disease, is not known.

Patients/ Methods: The pregnancy course and outcome and its effect on the muscular disorder was analysed retrospectively using a questionnaire. The women with genetically and/or biochemically confirmed Pompe disease were recruited by the German section of the International Pompe Association (n=66). The data were compared with information from the German statistical almanac, the German perinatal registry and the German registry of quality management in obstretrics.

Results: 31 women responded to the questionnaire (years: 50.1+13.2, range: 23–75). 25 women had 62 pregnancies (mean number of pregnancies: 2,0; no multiples) including 4 voluntary abortions (1 for medical reasons). Miscarriages occurred in 9/62 (14,5%). 49 children were delivered, 14,3% by cesarian section, 2,0% by forceps, 2,0% by vacuum extraction. The gestation duration was 39.0 weeks (SD 3,258), the mean birth weight was 3269g (SD 700). Preterm labor (before 37 weeks’ gestation) occurred in 8,2%, low birth weight (<2.500g) in 10,2%. Neonatal death occurred in 2.04%, haemorrhage during pregnancy occurred in 10.2%. 5 (16%) women had muscle weakness before pregnancy, which worsened in 3. Muscle weakness firstly occurred in 2 women. 66% of women would retrospectively decide against a pregnancy.

Conclusions: Compared to national data there does not seem to be an increased risk of pregnancy and delivery complications. However, muscle weakness might manifest or worsen in some women.