Counselling following the Prenatal Diagnosis of Klinefelter Syndrome: Comparisons between Geneticists and Obstetricians in Five European Countries

Abstract

Objective: To describe and compare the information obstetricians and geneticists in five European countries report they would give following the prenatal diagnosis of Klinefelter syndrome. Methods: 388 obstetricians and 269 geneticists from Germany, the Netherlands, Portugal, Spain and the UK completed a brief questionnaire assessing two variables: the information they reported providing to parents following the prenatal diagnosis of Klinefelter syndrome (categorized as positive or negative); and their perceptions of the quality of life with the condition. Results: Geneticists were more likely than obstetricians to report providing more positive than negative information about Klinefelter syndrome than equal amounts of positive and negative information or more negative than positive information about the condition (excess positive information). Regardless of specialty, the information that health professionals reported providing was predicted by their perceptions of the quality of life with the condition, and the country from which they came. Those perceiving quality of life as greater were more likely to provide an excess positive information, as were health professionals from Germany and the UK. Conclusions: These results suggest that the information parents across Europe receive after the prenatal diagnosis of Klinefelter syndrome varies according to the specialty and country of the health professionals consulted, and their perceptions of quality of life with the condition. This variation seems to reflect personal, cultural and professional differences between health professionals.

Factors Influencing Parental Decision Making in Prenatal Diagnosis of Sex Chromosome Aneuploidy

“…Other studies have shown that the decision to terminate was made more often when the postdiagnosis counseling was given by an obstetrician compared with a medical geneticist; 14,18,25 the obstetricians were more likely than geneticists to provide more negative information about the condition of 1 specific type of sex chromosome aneuploidy. 18 In our study, we were unable to examine the influence of this factor, because all the couples were counseled by obstetricians with a subspecialty in medical genetics. In Hungary, the vast majority of health professionals who perform prenatal invasive procedures and conduct genetic counseling are obstetricians.…”

“…4 Our sample size may not reveal small differences between groups; however, it is suggested that the cultural differences in the perceptions of parents and health care professionals regarding quality of life with this condition may mask influences of these factors and may also be the most likely explanation of the various termination rates between centers. 18 The professional identity of the information provider is another factor which may influence the parental decision making in prenatal diagnosis of sex chromosome aneuploidy. Other studies have shown that the decision to terminate was made more often when the postdiagnosis counseling was given by an obstetrician compared with a medical geneticist; 14,18,25 the obstetricians were more likely than geneticists to provide more negative information about the condition of 1 specific type of sex chromosome aneuploidy.…”

“…10,14 Although it is suggested that the large differences in the termination rates among countries and regions are most likely associated with cultural differences in the perception of abnormalities of sex chromosome aneuploidy on the part of parents and health care professionals, their roles in parental decision making have been much less analyzed and remain to be determined. 18 In this study we first performed a retrospective analysis of our prenatally diagnosed sex chromosome aneuploidy cases from the past 12 years to document the termination rates according to different conditions and to evaluate factors that influenced the parental decision about the pregnancy. Second, a brief questionnaire was administered in an attempt to uncover the parental perceptions, and perhaps misconceptions, that influenced the decision making.…”

Prenatal and Postnatal Prevalence of Klinefelter Syndrome: A National Registry Study

“…It has recently been shown that the parents' decision to terminate the pregnancy is influenced by the health professional providing the counseling. The affected pregnancy was more likely to continue if the counseling was given by a genetic specialist (21,22).…”

The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults

“…Second, the outcomes of pregnancies diagnosed with XXY appear to be influenced by the specialty of the clinician providing the counseling (Marteau et al 2002). Those parents receiving post-diagnosis counseling from a genetics professional are more likely to receive positive information about the condition (Bourke et al 2014; Hall et al 2001) and are also more likely to continue their pregnancy (relative risk: 2.42) (Marteau et al 2002). …”