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Pregnancy, conception and OA/TOF

As adults born with OA/TOF start families, they may seek medical advice about recurrence risk in their children. In those with isolated OA/TOF and those with non-isolated OA/TOF who aren’t part of a known genetic syndrome, recurrence risk is between 2% and 4%. (143) However, for those with genetic syndromes, the recurrence risk depends on the mode of inheritance of the syndrome and genetic counselling is advised.

Maternal health during pregnancy and delivery for women born with OA/TOF

There is no published research in this area, but from research in the Adult TOF support group, there are a few common themes of problems that can arise, mainly due to aggravation of existing issues by the increased demands on the body by pregnancy or the pressure of the foetus in the abdomen and pressure on the thorax.

  • Worsening reflux. This is clearly a common feature in many pregnancies, but the majority of adult mothers born with OA/TOF reported exacerbation of reflux.
  • Hyperemesis gravidarum. A number of our adult members reported hyperemesis in pregnancy. It is difficult without formal research to know if there is an increased risk in adults born with OA/TOF but one can see how this might be the case. Adults born with OA/TOF report vomiting more frequently than the healthy population, especially those with gastric pull-ups, and the impact of pregnancy hormones and the pressure of the foetus on the stomach and oesophagus later in pregnancy would exacerbate this.
  • Worsening/new respiratory problems. If there is already small lung volume or restricted lung volume, this may aggravate symptoms or unmask previously well-compensated patients due to the increased pressure on the thoracic cavity and additional demands on the maternal system. This is also the case for those with respiratory conditions such as bronchiectasis.
  • Nutritional support. Pregnancy may unmask or aggravate previously undiagnosed malnutrition and micronutrient deficiencies, especially in long-gap OA due to the additional demands of the pregnancy.
  • Breast asymmetry and difficulties breast feeding on the thoracotomy side. A number of our members reported this, and this correlates with the research into musculoskeletal effects of thoracotomy in this patient group.
  • Anaesthetic risk. As mentioned previously, adults born with OA/TOF may be high risk for general anaesthetic, and planned spinal anaesthesia may be preferred if Caesarean is needed.