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Titlebook: Antenatal Diagnosis of Fetal Abnormalities; James O. Drife (Professor of Obstetrics and Gynaec Book 1991 Springer-Verlag London Limited 19

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Fetal Karyotyping Using Chorionic Villus Samplesa dramatic expansion in the use of prenatal chromosome studies and risk of chromosome disorder is the major indication for prenatal diagnosis at present. Although older mothers were the major group known to be at high risk for fetal chromosomal disorder, they were having only 20%–30% of the chromoso
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Prenatal Diagnosis of the Fragile-X Syndromea birth frequency of approximately 0.4–0.8/1000 males and 0.2–0.6/1000 females [1–4], this syndrome is second only to Down’s as the most common form of heritable mental retardation. Penetrance in males in whom the fragile-X can be demonstrated (as opposed to the usually FRAXA negative yet gene-carry
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https://doi.org/10.1007/978-3-663-04785-8Down’s syndrome has been introduced in a number of centres. Our purpose in this chapter is not to review the subject as a whole but to identify some practical issues that perhaps need wider recognition.
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https://doi.org/10.1007/978-3-663-04784-1ses, better obstetric care and the improvement in social and environmental conditions. Congenital abnormalities, with a few exceptions, have not shared this amelioration. In 1978, the Medical Research Council, London, in a review of clinical genetics, emphasised that “handicaps due to a genetic diso
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