ORIGINAL ARTICLE Experts’ opinions on the benefit of an incidental prenatal diagnosis of sex chromosomal aneuploidy: a qualitative interview survey J. J. P. M. Pieters 1 *, C. M. Verhaak 2 , D. D. M. Braat 1 , E. van Leeuwen 3 and A. P. T. Smits 4 1 Department of Obstetrics and Gynaecology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 2 Department of Medical Psychology, Radboud University Nijmegen Medical Centre Nijmegen, The Netherlands 3 Department of IQ Healthcare, Medical Ethics Section, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 4 Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands *Correspondence to: J. J. P. M. Pieters. E-mail: j.pieters@obgyn.umcn.nl ABSTRACT Objective Incidental findings in prenatal diagnostic testing may or may not have clear prognostic significance for the phenotype. We studied experts’ opinions of the benefit and disadvantage of an incidental prenatal diagnosis of a sex chromosomal aneuploidy (SCA). Methods We interviewed 16 experts in the field of counseling and treatment of people with SCA and asked 13 clinical geneticists and genetic associates about the clinical relevance of an incidental prenatal diagnosis of SCA. Results Most of the experts and clinical geneticists (87.5% and 76.9%, respectively) stated that an incidental prenatal diagnosis of SCA was a benefit for the child and the parents. They acknowledged the possibility of parental decisions to terminate pregnancy. Expert options in screening, training, and treatment of health, behavior, and fertility problems increase with an early diagnosis of SCA. Conclusion Most experts favored an incidental prenatal diagnosis of SCA despite the complex counseling issues and their acknowledgment of possible parental decisions to terminate pregnancy. They believed the benefits greatly outweigh the disadvantages. © 2012 John Wiley & Sons, Ltd. Funding sources: None Conflicts of interest: None declared INTRODUCTION In prenatal diagnostic testing procedures, medical experts may be confronted with incidental findings regarding the fetus. Such findings may or may not be important for health and reproduction. Technological advances are causing rapid changes in prenatal diagnosis. For example, the use of genome-wide molecular tests leads to more diagnoses of genetic aberrations, for which the phenotypic significance is relevant, trivial, or uncertain. In good clinical practice, medical experts who are involved in counseling before and after testing inform the parents about the purpose of the test, the potential risks of the procedure, and the odds of a positive or unforeseen finding. 1 Whether it would be an appropriate standard of care to avoid incidental findings with uncertain clinical relevance is a subject of debate. Especially in the case of a fetal sex chromosomal aneuploidy (SCA), the potential gain or damage is unclear and is considered a difficult counseling issue. 2 The incidental finding of an SCA is considered a challenge to professional counseling skills because its clinical significance is variable. 3 Sex chromosome aneuploidies encompass syndromes caused by the abnormal presence or absence of X or Y chromosomes; they include Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX), or other aberrant karyotypes (47,XYY, 48,XXXY, 49,XXXXY, etc.). The phenotype of a person with SCA is very variable after birth, 4–6 and the clinical symptoms may include problematic growth; health problems such as cardiac, renal, and autoimmune disease; neurocognitive or psychosocial impairment; infertility; and endocrinological problems. 7 Especially when no ultrasound abnormalities are found, the diagnosis of a fetal SCA (mosaic or full blown) creates a complex counseling issue for medical counselors, as the phenotype is still uncertain after birth and there may be only mild symptoms or none at all. Some people with SCA may have visible stigma (webbed neck in 45,X or breast enlargement in 47,XXY), some may be karyotyped because of health problems or infertility, and others may go through life without ever knowing they have a genetic anomaly. 8–10 Earlier studies have described the postnatal SCA phenotype after an incidental prenatal diagnosis as very mild compared with the individual phenotypes that are ascertained because of clinical symptoms. 6,9,11,12 Prenatal Diagnosis 2012, 32, 1151–1157 © 2012 John Wiley & Sons, Ltd. DOI: 10.1002/pd.3975