Prenatal genetic counseling in Klinefelter syndrome: Comments on the article by Lalatta et al. [2013] and a proposal of a new approach

We read with great interest the article “Counseling parents beforeprenataldiagnosis:Doweneedtosaymoreaboutthesexchromo-someaneuploidies?”byLalattaetal.[2013].Wewouldliketowidenthe discussion about the importance of an appropriate geneticcounseling, focusing the attention particularly on the Klinefeltersyndrome (KS).In our Pediatric Department at “Universita` Sapienza di Roma”we are trying to improve our method of counseling to parentsofchildrenwithKS.Ifprenataltestingidentifiesthepresenceofanychromosomalanomalyinthefetus,future parentsfindthemselvesconfronted with the decision to continue or terminate the preg-nancy [Marteau et al., 2002].Weselected,over10years(September2002toSeptember2012)agroup of couples with a child with Klinefelter Syndrome andquestioned them.A questionnaire has been created, using open-ended ques-tions, to present to the 50 couples (Fig. 1). The questionnaireaimed to evaluate what the parents experienced. The questionsare divided into two groups. The first group is formed by threequestions evaluating the initial experience of these coupleswith the gynecological counseling. This part, which providesfor parents to meet with the physician, has as objective tounderstandthedegreeofinformationofparentsonKS,discoversources from which parents have learned the information and,eventually, fill in any gaps. We use this part also to facilitatethe parents towards a correct and accurate understanding ofthe syndrome by changing erroneous beliefs and to propose thepossible observational approach in the case of continuation ofthe pregnancy. The presence of the geneticist is very importantto become a guide to which refer, both for the counseling andthe management of the child during the growth. The consultanthasalwaystoexpresspurelymedical opinions, avoiding toexpress personal opinions or to influence the parents’ decision.Thesecondgroupinvolvestheadministrationofananonymousquestionnaire to both parents, formed by three questions aim-ing to understand if our approach influenced the idea that theparents had about the syndrome and about the future of theirchild. The questionnaire was administered at the end of eachconsult, providing parents all the time needed to compile it.Afterourgeneticcounseling,thepercentageofabortionwasonly4.2%;infact,among50coupleswithaprenataldiagnosisofKS,onlytwo couples decided to terminate pregnancy. None of the termi-natedpregnanciespresentedafetalabnormalityatultrasound,butone was a couple with previous therapeutic abortion for prenataldiagnosis of Down syndrome and the other one was previouslyinformed by the gynecologist, that KS presents mental retardationand congenital anomalies. Maternal age and year of test did notinfluence parental decisions (Table I).Ourstudydemonstratedthat,withapropergeneticcounseling,parents can decide being fully aware of what having an extra sexchromosome can mean in the development of their child. Theytypically express fears about sexual orientation of their child,dimensionsofhispenis,riskofimpotence,feminineaspectassoci-ated with the presence of one or more X chromosomes andjudgment by their family and by others. Also, there is a markedworry about when to inform the patient about his condition.