Reproductive experience of women living with phenylketonuria

INTRODUCTION: Many women with PKU are well-informed about the risks of maternal PKU but there are several barriers to achieving satisfactory metabolic control before and during pregnancy. Many studies have documented the outcome of maternal PKU infants, but very little has been reported about the experiences of women of reproductive age with PKU, particularly about their psychosexual development, pre-conception, pregnancy and postnatal experience. METHODS: In the UK, in a subsection of an online questionnaire conducted by the National Society for PKU (NSPKU) about living with PKU, women aged 18 years and over completed 9 closed questions about their pre-conception, pregnancy and post-natal experiences and an open-ended question on their reproductive health. RESULTS: 300 women aged 18 years and over with PKU completed this questionnaire with 37% (n = 111/300) of women already having children. 56% (n = 71/128) of pregnancies were planned and a further 18% (n = 23/128) of women had both planned and unplanned pregnancies. Most women (73%, n = 200/273) expressed concerns, fears and distress about pregnancy and two thirds of women who had at least one pregnancy stated that having PKU made pregnancy more stressful and difficult. 60% (n = 164/273) were concerned that they may cause harm to a baby, 58% (n = 159/273) worried about their ability to manage a strict diet during pregnancy, 54% (n = 147/273) had anxiety about their ability to maintain blood Phe within target range, and 48% (n = 132/273) feared having an unplanned pregnancy. Postnatally, 48% (n = 45/93) had low mood or sadness, 41% (n = 38/93) were depressed, 34% (n = 32/93) felt unable to cope, 33% (n = 31/93) said they could not manage their PKU and care for their baby, 14% (n = 13/93) struggled with child care needs and 4% (n = 4/94) worried they might hurt themselves or their baby through being unable to manage their diet. CONCLUSIONS: Many women with PKU have unmet sexual and reproductive health needs. Pregnancy fears are prominent from adolescence onwards and for some women overarching concerns about their ability to cope with pregnancy led to a decision not to have children. Interventions are needed to reduce the psychological impact of the risk of maternal PKU syndrome and assist with safe pregnancies. Post-natal experiences of women with PKU give rise to concern.