Rapid Responses to:
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Rapid Responses: Rapid Responses published:
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![[Read Rapid Response]](/icons/misc/sectionDOWN.gif)
Medea Syndrome as a complication of amniocentesis
- James S Smeltzer (24 February 2001)
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Self-help group for men with Klinefelter syndrome backs conclusions.
- Steve Hammett (27 February 2001)
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Response to "What parents are told etc"
- Mairi MacDonald (3 March 2001)
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What parents are told after prenatal diagnosis of a sex chromosome abnormality
- Richard Wilson (30 April 2001)
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Educating professionals is essential but, should we be screening for sex chromosomes abnormalities?
- L N Al-Jader, S Davies (17 May 2001)
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James S Smeltzer, Consultant, Maternal Fetal Medicine Wellstar Health System
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This probing article exposes an infrequently mentioned, but serious and disturbing, complication of random amniocentesis indicated only by age and maternal serum testing: the risk that one's own child will die by one's own choice because of a minor chromosomal problem. In a higher risk population, such as my own, this risk greatly exceeds the amniocentesis procedure-related loss rate, which we discuss in full. The fact that it goes unmentioned in routine patient counselling exposes the search-and-destroy mentality that is at the root of the eugenics movement and prenatal genetic testing by amniocentesis. These innocent victims of this approach should probably be counted together in the procedure related loss rate. Fortunately we have viable options for the large majority of women who want to forgo these risks: nuchal lucency screening, serum screening and targeted sonography can correctly identify most fetuses with major chromosomal or structural problems, while keeping safe those fetuses without them. It has been my personal experience that after appropriate counselling only a minority of women of any age choose amniocentesis as a primary testing modality. This report lends credence to the wisdom of the majority who choose other options. The high abortion rate, almost one fourth, and the parental comments both suggest that the first call should come from a professional with experience in helping women deal with this type of information. James S. Smeltzer, MD, FACOG |
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Steve Hammett, Information Officer Klinefelter Organisation (spare-time volunteer)
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I would like to support what has been said regarding what parents are told following prenatal diagnosis of Klinefelter syndrome. I have been working in my spare-time for over 10 years with people with this condition and have had many calls over the years from anxious parents both in the UK and abroad (via E-mail) who have been advised, typically by gynaecologists, that they should terminate the pregnancy. The reasons given go beyond those stated by Abramsky, et al., but have included mental retardation, the need for an affected child to be institutionalised when they grow up, the suggestion that most adults with the syndrome are in prisons or mental hospitals (confusing it with XYY syndrome) as well as suggesting that men with the syndrome can expect to die early. It is also disturbing to find that some parents are told that men with Klinefelter syndrome never marry and they should not expect him to achieve much in life. Marriage whilst it may be less common than in the general population, is nevertheless fairly common and some of us have attained academic/professional qualifications. One of the main causes of these professional lapses seems to be relying on out of date information, or getting Klinefelter syndrome muddled up with XYY syndrome. Another common problem is professionals who are unaware that Klinefelter syndrome is a congenital genetic disorder and all too often one encounters a distressed parent who has been told, sometimes years earlier, that they could have more boys with the syndrome because it is inherited. Better education in needed in medical schools to avoid this. Finally, as a patient myself (I have the common 47,XXY karyotype) some clinicians have suggested to me that I cannot have Klinefelter syndrome as I am not mentally retarded, until they have checked my records, which I have come to view with resigned amusement. Further information on Klinefelter syndrome including an information sheet, checked by several of our medical advisers, is available at our website, at: http://www.klinefelter.org.uk Steve Hammett. |
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Mairi MacDonald, Secretary, UK Intersex Association as above
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While we certainly welcome the publication of this article, the content is horribly familiar and doesn't really tell us anything which we haven't known for years. Nonetheless, we are pleased to see it appear in such a widely read and authoritative journal since we hope it will promote the necessary dialogue between the various professionals involved in care and treatment of people with Intersex conditions. Beyond that, we hope it will begin to extend that dialogue to involve the various support agencies staffed by individuals who, in addition to many years' involvement in Intersex affairs, have their own personal experience of being Intersex. Any parent who is presented with the information that their child has chromosomal variance can benefit from being in contact with living role models and shown that, except in a tiny number of cases, being Intersex presents no barriers of any kind to achievement, education, marriage, health, psychological stability and normal membership of society. The members of the various support agencies can fully demonstrate this by the evidence of our own life experiences. An Intersex condition is not a disease nor, in the overwhelming majority of cases, does it carry any debilitating medical consequences and any psychological consequences are, in our experience, not directly related to the condition itself but are the result of ill-informed and poorly researched medical intervention to "normalise" the individual. To advise termination purely on the grounds that a child is chromosomally variant can only be accurately described as eugenics. One medical professional stated recently with regard to this very subject, "We can now prevent babies being born with these conditions" - that would be more honestly phrased, "We can now prevent babies with these conditions being born". M. MacDonald, UK Intersex Association http://www.ukia.co.uk |
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Richard Wilson, Consultant Paediatrician Kingston Hospital NHS Trust
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Dear Sir The statistically insignificant findings of Abramsky et al are very significant for the families concerned. The reward of giving normal results to anxious parents seems to motivate antenatal staff into also giving abnormal results which they are not equipped to deal with. To telephone these to a parent seems the height of insensitivity, and the process has to change. This includes all results, not just those of sex chromosome anomalies. The medical view is focused on the mathematical risks, just as it is on “statistically significant” odds. Parents faced with a termination, or the implications for future pregnancies want an estimate of the quantum, the size of the possible problem, not just the odds. The size and impact has to be looked at in relationship to the resources and experience and views of the individual family. A wager on the card tables which could be a trifle for an international multimillionaire, might led to total bankruptcy for me. I could not take the risk whatever the odds. These issues need to be discussed by parents with somebody who has experience of the type of problem, who knows the hazards and the treatment and the support available. The priority in the discussion is not just to tell people but to listen, and this is poorly understood. This is nothing to do with the good intentions of Obstetricians, Midwives and even Geneticists. It is an area outside their expertise, in just the same way that tonsillectomy or care of a patient with a myocardial infarct is. For 27 years I have held weekly evening clinics for parents who have faced the loss of their child inutero, in the neonatal period or in infancy, including terminations for fetal abnormality. I also run a clinic for parents with subsequent children. This is in addition to the clinical care and support they receive from Obstetricians and Midwives, and when necessary from Geneticists. Parents are offered appointments with consultants in both Obstetrics and Paediatrics. It seems to matter little who they see first. It is more important that all the information is available. We have a very expert regional department of Paediatric Pathology at St George’s Tooting who consult with the Geneticists when needed. We have developed excellent midwifery care for these families and their main need is often help with their sense of loss, which can be overwhelming. One cannot expect high tech narrowly specialised distant fetal medicine units to take on this role. Parents may be facing the loss not only of their actual child, but also of their Dream Child who has encapsulated their hopes for the future. This work is not easy. I have to say that the collaboration which we have locally between Obstetricians, Paediatric Pathologists, Geneticists, Midwives and Paediatricians makes it easier for us. We can give much better care to families who are faced with the loss of their Dream Child when there is an abnormality and faced with the loss of their actual child too. I would like to thank all my colleagues at Kingston since they do not always have the reward of seeing these families over the longer-term with future children as we do in Paediatrics. Yours sincerely Dr. Richard Wilson, FRCP FRCPCH DCH
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L N Al-Jader, Clinical Senior Lecturer/Honorary Consultant in Public Health Genetics University of Wales, College of Medicine, Cardiff, S Davies
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Editor- We have read with interest Abramsky et al and Biesecker's editorial in your 24 February 2001 issue. The findings agree with our observation and raise two issues. The first is the need for appropriate training in genetics, counselling and communication skills for health professionals delivering antenatal screening for congenital abnormalities. The Bro Taf district in south Wales, has developed an Antenatal Screening Strategy for Congenital Abnormalities. It is based on a model of care, which identify a named Screening Midwife Specialist and a Consultant Obstetrician with the responsibility for delivering high quality screening service in every maternity unit . Educational courses have been developed to address the training needs of the health professionals providing the service. The second issue relates to the identification of sex chromosome aneuploidy, an unexpected outcome of antenatal screening in most cases. As NHS service providers, we have to consider which chromosome anomalies to screen for. If we are undertaking full karyotyping, the providers and the women have to be prepared for unexpected outcomes. Restricted testing for trisomy 21, 13 and 18 using newer technologies could be offered and discussed with mothers during counselling prior to antenatal screening. This would help us move towards a universal rapid prenatal diagnosis restricting full karyotyping to specific conditions. However, if some but not all providers implemented such a policy, it would lead to further fragmentation and inequality of access to antenatal screening. Could this be one area where the National Institute for Clinical Excellence (NICE) could provide guidance? Dr. Al-Jader L N, Dr. Davies S, |
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