Abstract

A 35 year old hospital worker was diagnosed with Huntington’s disease in the previous year after following a personality change.

Her main symptoms reported was that of choriform movements and anxiety which was managed with 150 mg of Venlafaxine. Her mother also suffers from the condition. The pregnancy was unplanned and booked at 24 weeks. The couple were aware of the 50% risk of inheritance to the baby, but declined prenatal testing as they would not have undergone a termination should the result be positive. Antenatally, her choriform movements increased causing her to fall and fracture her right humerus. She required help with activities of daily living and subsequently social workers and occupational therapists were involved in her care. There was evidence of good clinical growth, although at 34 weeks gestation scan demonstrated evidence of an enlarged heart for which all investigations were normal.

The plan was to aim for a vaginal delivery, however she presented with SROM of thick meconium in early labour. She progressed to 4 cm dilatation, developed a bradycardia and subsequently had a CS. The apgars were normal and the patient made a straightforward post op recovery. The enlarged heart was not confirmed postnatally.

This report focuses on the issues involved in reproductive decision making and prenatal testing in parents at risk of Huntington’s disease. Both deciding to abstain from having children or to pursue prenatal testing, with a 50% chance of a positive result, reflect complex problems.