Abstract
Phenylketonuria (PKU) is a rare autosomal recessive disorder which causes toxic build up of phenylalanine, leading to microcephaly, seizures, severe intellectual disability and behavioral problems in untreated individuals. Maternal PKU results in the risk to have offspring with microcephaly, congenital heart defects, cognitive disability and low birth weight. The goal of this study was to examine the role that genetic counselors currently have in the care of pregnant women with PKU and how that informs us about the potential opportunities genetic counselors may play in the care of these women. We recruited genetic counselors who have been involved in the care of women with PKU as well as women with PKU who have had a prior pregnancy, to complete two separate anonymous, online surveys, which included both multiple choice and open ended questions. Thirty-five genetic counselors and sixteen women with PKU responded to the surveys. Women with PKU presented to genetic counseling in a variety of ways, most often related to maternal PKU, which was observed in both surveys. During genetic counseling visits for non-maternal PKU related indications, maternal PKU was discussed, indicating that genetic counselors are educated about and currently provide information about PKU and maternal PKU effects. The majority of women with PKU that genetic counselors reported they had seen were seen pre-conception or prenatally and not postnatally. The majority of genetic counselors felt that women with PKU should be seen by genetic counselors to discuss risks related to maternal PKU and the risk of PKU in offspring. Women with PKU reported positive responses to experiences with genetic counselors. Overall, our study suggests that genetic counselors can fill an important supportive and education role in the care of women with PKU surrounding their pregnancies.