ESPE Abstracts (2015) 84 WG6.1

Incidental Prenatal Diagnosis of Turner Syndrome, Perspectives of Parents and Professionals

Jacqueline Pieters


MCK Fertility Centre Leiderdorp, Leiderdorp, The Netherlands


In the light of technologic advances in prenatal testing, more genetic information about the fetus will become available, some of which may have uncertain clinical significance. In the light of all new genetic diagnosing technologies, professional guidance of patients to reliable, tailored, and accurate information is essential. In this presentation I analyze and discuss the various aspects of parental attitudes and dilemmas, as well as professional opinions about the benefits or disadvantages of an incidental finding of a fetal sex chromosome aneuploidy (SCA). I will focus on the incidental prenatal diagnosis of Turner syndrome. I will discuss how to provide accurate and balanced pre-test information to parents and to guide them to secure additional information. An incidental prenatal finding of Turner syndrome in routine prenatal testing procedures always comes as a shock to parents, as they are often not aware of the possibility of incidental findings and are not familiar with the syndrome. Moreover, the phenotypic prognosis is uncertain. Turner syndrome is associated with many diseases, but in prenatal incidental diagnosis and without any ultrasound abnormalities, the child might have a better prognosis. I will discuss a review of the literature. Prenatal pre- and post-test prenatal counseling should guide parents to a well-informed decision in whether or not to continue pregnancy and to assist them in this difficult period in pregnancy with many uncertainties. Shared decision-making after non-directive counseling by medical and psychological specialists after an incidental prenatal diagnosis of Turner syndrome, enhances patient empowerment and ultimately leads to more satisfaction with the decision to continue or to terminate. Professional opinions are explored on the (un)desirability of a prenatal diagnosis of Turner syndrome. It may lead to more understanding of the child’s needs and a better parent-child relationship; but the risk of stigmatizing of the child must be kept in mind. Early medical testing and treatment as well as early psychological support is possible, which is beneficial for the prognosis of these Turner girls and may give them better chances and a better health status later in life.

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