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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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The Northern Regional Fetal Abnormality Surveyetal health and development antenatally in a non-invasive way. Initially such techniques were largely used in the review and assessment of high risk pregnancies, but alphafetoprotein (AFP) and sonar screening are now being widely used to screen all mothers for fetal abnormality in early pregnancy. T
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Routine Fetal Anomaly Screeningin the early weeks to establish dates and viability, or in later pregnancy to determine fetal size or placental site. As the standard of equipment available has improved and the technical skill of the operators has advanced, the ability to visualise fetal structures has increased to the extent that
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Some Practical Issues in the Antenatal Detection of Neural Tube Defects and Down’s SyndromeDown’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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Heterozygote Screening for Cystic Fibrosised as an autosomal recessive trait and there is now abundant evidence that all cases of CF are the result of either homozygosity or compound heterozygosity or mutant alleles at a single genetic locus. The birth prevalence in the UK is estimated to lie between 1 in 2000 and 1 in 2500, and the heteroz
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Cardiac Ultrasound Scanninginal probe is most useful at this stage but the abdominal approach with a high resolution transducer will also display the cardiac connections in the majority of patients. More complete fetal heart examination usually takes place at 18 weeks’ gestation, when the connections can be seen in every pati
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Doppler Ultrasound Studies and Fetal Abnormalityases of pregnancy. The fetal umbilical circulation has been most studied [1]. Such studies are simply performed. Studies have also been carried out on blood flow within the fetus, in particular in the aorta and the cerebral circulation.
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Overview of Linkage and Probeshe rapid advances in gene mapping and also removes the need to examine tissue in which the gene in question is expressed. The latter means there is no theoretical limit to how early in pregnancy the diagnosis can be made. In practice of course reliable access to fetal material without endangering th
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Diagnosis of Genetic Defects in Eggs and Embryosin two if one parent carries a dominant disease mutation. For such couples, the genetic status of the fetus may be determined during pregnancy by diagnostic tests on samples of chorionic villus or on fetal cells obtained by amniocentesis. If the fetus proves to be affected, the couple has the option
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