Genetic disorders and the fetus: Diagnosis, prevention and treatment (3rd edn): edited by Aubrey...

1
~]OOK ~EVIEWS Je ne regret~e rien? Communication in Science:Writing a Scientific Paperand Speaking at Scientific Meetings by Vernon Booth Cambridge University Press, 1993. &8.95 pbk (96 pages) ISBN 0 521 42915 3 What do you expect when you pick up a Hou, to... or self-help manual? I usually anticipate boredom. I would only be caught with such a book if I were waiting to see the dentist or trying to avoid a Jehovah's witness (or, indeed, the local parson). However, in this particular case my expectation would be wrong. A Jehovah's witness might nod sagely when I describe Vernon Booth's achievement as a Jacob's ladder of scientific communication. Alternatively, a Led Zeppelin fan might head-bang furiously if I alluded to the book as a 'stairway to heaven'. Booth's style is pithy, pugnacious and, where necessary, pedantic. It begins with an allusion that equates writing a paper, book or thesis with giving birth. We are then encouraged to think of such paper-labour as an ultimately pleasant headlines or captions are to a scientist what plot and narrative are to a novelist: they make a paper readable. There are discussions on comparatives, homonyms and changing word usage. An example of the latter is the term 'bred', now substituted for 'mated', and whose other meaning suggests the creation of a new strain after many selections. Chapter 2 has many useful suggestions on lecturing, including a blueprint for lulling an audience to sleep. It seems to be a well-known directive. A good talk need not be witty, but should leave an audience with the impression you wish to give. Be clear as to why and how you did this work, what you found and what you think it means. Keep your visual aids simple and avoid teleology; 'There is no evidence that DNA can think teleologically; if it could, it would have provided scientists with the gift of eloquence'. Speak slowly and pronounce clearly; 'specific', not 'pacific' or that other ocean. On finishing, be ready for some more of that 'endless criticism'. A reasonable assumption of the book is that English is the international language of science. In consequence, chapter 5 is addressed to those (such as myself) whose first language is not English. Chapter 6 is an appeal to North Americans as the present trustees (John Patten, take note) of the English language, asking us to restrain misusage and improve good usage. The finale is rese~,ed for the preparation of a doctoral thesis and gives yet more good advice. As I read this book, I realized how much pleasure the author took in writing it. It is a good practical read and will be useful to all scientific writers, from the undergraduate to the emeritus professor. Vernon Booth ends with the reminder that 'A good thesis based on a few results betters a bad one based on many'. This last statement sets off a twinge of guilt when I think of my poor thesis examiners, one of whom admonished me with the statement "I see you've managed to spell my name wrongly'. Aghhh! Richard Meehan hlstitute of Ceil and Molecular Biolopxl'. Danvin Building, Unitep~'ity of Edinbm~b. King's Buildings, West Mains Road. Edinbtogb. ~" EH9 3JQ. task. Of necessity, this occupation is fraught with rewrites and what Fran~'ois Jacob referred to as '...the unfamiliar universe of limitless imagination and endless criticism' - usually from helpful but critic;:l colleagues. The early chapters comprise a succinct amly of suggestions, subdivided under useful headings, on how to organize and write a scientific paper. For example, where should one st:m? Usually with data, so check your notebooks. The old adage that the data speaks for itself applies here. Then talk to colleagues, co- workers and your supervisor to think out the arguments. Draw up an outline of the paper, and then get serious and make the figures. I prefer then to start with the abstract, whereas Booth suggests beginning with the material and methods section. After this basic advice comes a lot of practical advice on the choice of words and on written English. Examples of word usage and misusage abound. In general, it is suggested, short words are preferable to long ones - 'Show may be better than demonstrate, disclose, exhibit or reveal. However do not eschew (avoid, reject, disdain, spurn, scorn) a grand word if it conveys the meaning better than another: sl,rup is an aqueous solution that cannot be called watery; eapunge is more vigorous than p~,mot,e...' Avoid inelegant writing such as 'We horizontalized the patient...and decholecystectomized him'. Other useful maxims include the idea that ~~Prediction, prevention and progress Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment (3rd edn) edited by Aubrey Milunsky Jolms Hopkins University Press, 1992. $125.00/£94.00 hbk (880 pages ) ISBN 0 8018 4413 4 Inevitably, this book is mainly about prenatal diagnosis for the detection of severe and currently untreatable genetic and congenital disorders. However, the title also reflects the slow, but hopefully sure, movement towards true prevention and fetal treatment. There is an excellent chapter on fetal therapy. The prevention of recurrent neural tube defect by vitamin supplementation is an outstanding example: also described are percutaneous fetal surgery, the relief of obstructive uropathy and of obstructive ventriculomegaly, and progress with open fetal surgery. Medical fetal therapy includes the correction of fet01 anaemia, of congenital adrenal hyperplasia, and of abnormalities in the rhythm and rate of the fetal heart. A small number of inherited biochemical anomalies are amenable to prenatal treatment and the section concludes with a brief note on gene therapy. In future editions the TIG OCTOBER 1993 VOL. 9 .xo. 10 367 balance will probably shift further towards feud therapy and away from selective abortion. In the meantime, prenatal screening, diagnosis and selective termination of pregnancy remain the major concerns; these provide extended reproductive choices to thousands of couples and help avoid an increasing number of major physical and mental disabilities. The central importance of accurate empathetic genetic counselling is stressed and most aspects of prenatal diagnosis, including amniocentesis, chorionic villus sampling, ultrasound and fetal blood sampling, are given good coverage. The exciting possibilities of prenatal diagnosis through the noninvasive analysis of fetal cells in the maternal circulation are described. Both the indications for, and risks of, prenatal diagnosis are discussed in detail. Screening during pregnancy, aided by dietary supplementation and social trends, has greatly reduced the prevalence of neural tube defect. Pregnancy screening for Down syndrome using a combination of biochemical assay and maternal age, can now detect nearly 70% of affected pregnancies, although 5% of pregnant women then require anmiocentesis. The costs and benefits of such screening are considered. Population screening for genetic disorders is exemplified by the

Transcript of Genetic disorders and the fetus: Diagnosis, prevention and treatment (3rd edn): edited by Aubrey...

Page 1: Genetic disorders and the fetus: Diagnosis, prevention and treatment (3rd edn): edited by Aubrey Milunsky Johns Hopkins University Press, 1992. $125.00/£94.00 hbk (880 pages) ISBN

~]OOK ~EVIEWS

Je ne regret~e rien?

Communication in Science: Writing a Scientific Paper and Speaking at Scientific Meetings by Vernon Booth

Cambridge University Press, 1993. &8.95 pbk (96 pages) ISBN 0 521 42915 3

What do you expect when you pick up a Hou, to... or self-help manual? I usually anticipate boredom. I would only be caught with such a book if I were waiting to see the dentist or trying to avoid a Jehovah's witness (or, indeed, the local parson). However, in this particular case my expectation would be wrong. A Jehovah's witness might nod sagely when I describe Vernon Booth's achievement as a Jacob's ladder of scientific communication. Alternatively, a Led Zeppelin fan might head-bang furiously if I alluded to the book as a 'stairway to heaven'.

Booth's style is pithy, pugnacious and, where necessary, pedantic. It begins with an allusion that equates writing a paper, book or thesis with giving birth. We are then encouraged to think of such paper-labour as an ultimately pleasant

headlines or captions are to a scientist what plot and narrative are to a novelist: they make a paper readable. There are discussions on comparatives, homonyms and changing word usage. An example of the latter is the term 'bred', now substituted for 'mated', and whose other meaning suggests the creation of a new strain after many selections.

Chapter 2 has many useful suggestions on lecturing, including a blueprint for lulling an audience to sleep. It seems to be a well-known directive. A good talk need not be witty, but should leave an audience with the impression you wish to give. Be clear as to why and how you did this work, what you found and what you think it means. Keep your visual aids simple and avoid teleology; 'There is no evidence that DNA can think teleologically; if it could, it would have provided scientists with the gift of eloquence'. Speak slowly and pronounce clearly; 'specific', not 'pacific' or that other ocean. On finishing, be ready for some more of that 'endless criticism'.

A reasonable assumption of the book is that English is the international

language of science. In consequence, chapter 5 is addressed to those (such as myself) whose first language is not English. Chapter 6 is an appeal to North Americans as the present trustees (John Patten, take note) of the English language, asking us to restrain misusage and improve good usage. The finale is rese~,ed for the preparation of a doctoral thesis and gives yet more good advice.

As I read this book, I realized how much pleasure the author took in writing it. It is a good practical read and will be useful to all scientific writers, from the undergraduate to the emeritus professor. Vernon Booth ends with the reminder that 'A good thesis based on a few results betters a bad one based on many'. This last statement sets off a twinge of guilt when I think of my poor thesis examiners, one of whom admonished me with the statement "I see you've managed to spell my name wrongly'. Aghhh!

Richard Meehan

hlstitute of Ceil and Molecular Biolopxl'. Danvin Building, Unitep~'ity of Edinbm~b.

King's Buildings, West Mains Road. Edinbtogb. ~" EH9 3JQ.

task. Of necessity, this occupation is fraught with rewrites and what Fran~'ois Jacob referred to as '...the unfamiliar universe of limitless imagination and endless criticism' - usually from helpful but critic;:l colleagues.

The early chapters comprise a succinct amly of suggestions, subdivided under useful headings, on how to organize and write a scientific paper. For example, where should one st:m? Usually with data, so check your notebooks. The old adage that the data speaks for itself applies here. Then talk to colleagues, co- workers and your supervisor to think out the arguments. Draw up an outline of the paper, and then get serious and make the figures. I prefer then to start with the abstract, whereas Booth suggests beginning with the material and methods section.

After this basic advice comes a lot of practical advice on the choice of words and on written English. Examples of word usage and misusage abound. In general, it is suggested, short words are preferable to long ones - 'Show may be better than demonstrate, disclose, exhibit or reveal. However do not eschew (avoid, reject, disdain, spurn, scorn) a grand word if it conveys the meaning better than another: sl,rup is an aqueous solution that cannot be called watery; eapunge is more vigorous than p~,mot,e...' Avoid inelegant writing such as 'We horizontalized the patient...and decholecystectomized him'. Other useful maxims include the idea that

~ ~ P r e d i c t i o n , prevention and progress

Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment (3rd edn) edited by Aubrey Milunsky

Jolms Hopkins University Press, 1992. $125.00/£94.00 hbk ( 880 pages ) ISBN 0 8018 4413 4

Inevitably, this book is mainly about prenatal diagnosis for the detection of severe and currently untreatable genetic and congenital disorders. However, the title also reflects the slow, but hopefully sure, movement towards true prevention and fetal treatment. There is an excellent chapter on fetal therapy. The prevention of recurrent neural tube defect by vitamin supplementation is an outstanding example: also described are percutaneous fetal surgery, the relief of obstructive uropathy and of obstructive ventriculomegaly, and progress with open fetal surgery. Medical fetal therapy includes the correction of fet01 anaemia, of congenital adrenal hyperplasia, and of abnormalities in the rhythm and rate of the fetal heart. A small number of inherited biochemical anomalies are amenable to prenatal treatment and the section concludes with a brief note on gene therapy. In future editions the

TIG OCTOBER 1993 VOL. 9 .xo. 10

367

balance will probably shift further towards feud therapy and away from selective abortion.

In the meantime, prenatal screening, diagnosis and selective termination of pregnancy remain the major concerns; these provide extended reproductive choices to thousands of couples and help avoid an increasing number of major physical and mental disabilities. The central importance of accurate empathetic genetic counselling is stressed and most aspects of prenatal diagnosis, including amniocentesis, chorionic villus sampling, ultrasound and fetal blood sampling, are given good coverage. The exciting possibilities of prenatal diagnosis through the noninvasive analysis of fetal cells in the maternal circulation are described. Both the indications for, and risks of, prenatal diagnosis are discussed in detail.

Screening during pregnancy, aided by dietary supplementation and social trends, has greatly reduced the prevalence of neural tube defect. Pregnancy screening for Down syndrome using a combination of biochemical assay and maternal age, can now detect nearly 70% of affected pregnancies, although 5% of pregnant women then require anmiocentesis. The costs and benefits of such screening are considered.

Population screening for genetic disorders is exemplified by the