Ethical Issues in Recruiting Prenatally Diagnosed Adults for Research: Klinefelter Syndrome as an Example
Ethical Issues in Recruiting Prenatally Diagnosed Adults for Research: Klinefelter Syndrome as an Example
复制标题
DOI：
10.1159/000328845
复制
发表时间：
2012-01-01
影响因子：
1.7
通讯作者：
Gillam, L. H.
中科院分区：
文献类型：
--
作者：
Herlihy, A. S.;Halliday, J. L.;Gillam, L. H.
AS Herlihy a, e–g JL Halliday a, c LH Gillam a, b, d a Murdoch Childrens Research Institute, b Royal Children’s Hospital, c Department of Paediatrics and d Centre for Health and Society, The University of Melbourne, Parkville, Vic.; e Department of Obstetrics and Gynaecology, Monash University, f Andrology Australia, and g Prince Henry’s Institute of Medical Research, Clayton, Vic., Australia genetic information obtained prenatally or in the first few years of life, a topic that has not received much attention. One example that raises substantial ethical issues arising from information obtained during prenatal diagnosis is Klinefelter syndrome (KS). KS is a common, but underdiagnosed, genetic condition caused by an additional X chromosome in males (47, XXY). Symptoms range from azoospermia, small testes, testosterone deficiency and breast development, to varying degrees of learning, behavioural and cognitive difficulties, but can vary greatly between individuals [3]. Recent studies have estimated the prevalence of KS to be as high as 1 in 450 male births [4], and possibly increasing [5]. However, up to 70% of males are never diagnosed [6] because of low awareness of the condition amongst health professionals, the nonspecificity of symptoms and the reluctance of men to seek medical attention [7]. Many postnatal diagnoses occur in adulthood during fertility investigations, which may be beyond the point of optimal intervention [8]. Due to this lack of detection, many studies of KS suffer from ascertainment bias and small sample size, as research can only be carried out with the diagnosed population. A series of newborn screening surveys in the 1950’s and 1960’s provide the most comprehensive descriptionSince its introduction during the 1970’s, prenatal diagnosis has become more accessible and more accessed, with the number and range of genetic conditions able to be detected increasing as technology advances [1]. For many genetic conditions that can be identified by prenatal diagnostic testing, such as Down syndrome (trisomy 21), a clinical diagnosis would almost always be made at birth due to the obvious phenotype, if the condition was not identified prenatally. However, prenatal diagnosis, and even newborn testing, has opened the doors for the incidental identification of genetic conditions that may not be phenotypically explicit at birth, leading to a diagnosis earlier than one might expect should such testing not have occurred.
