Method of sampling chorionic villi in first trimester of pregnancy under guidance of real time ultrasound.

Ward, R. H. T.; Modell, Bernadette; Petrou, Mary; Karagozlu, Fatih; Douratsos, E

doi:10.1136/bmj.286.6377.1542

Cited by 174 publications

(45 citation statements)

References 5 publications

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“…We have also demonstrated that the ESD phenotypes can be easily demonstrated in fetal blood samples and in chorionic villus samples, thus permitting antenatal diagnosis during the first trimester (Ward et al, 1983;Rodeck et al, 1983). Although this enzyme polymorphism will be invaluable for the families reported here, because of the low frequency of the 2-allele in the UK will restrict widespread use.…”

Section: Resultsmentioning

confidence: 99%

An assessment of the usefulness of electrophoretic variants of esterase-D in the antenatal diagnosis of retinoblastoma in the United Kingdom

Cowell¹,

Jay²,

Rutland³

et al. 1987

Br J Cancer

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Summary Fifty retinoblastoma families have been studied. In 41 it has been possible to determine the esterase-D phenotypes in all family members. Seven families were informative for the enzyme polymorphism and in all cases cosegregation of the retinoblastoma gene and esterase-D alleles was demonstrated, giving a lod score of 2.61. When combined with other published reports the cumulative lod score is 13.69 with no recombination in 45 meioses. In 10-15% of retinoblastoma families therefore, it is possible to offer prenatal diagnosis using the ESD protein polymorphism. The application of this test to the retinoblastoma population in the UK is limited by the low frequency of the rarer allele (0.116) and, as a result of genetic counselling, the smaller families generally associated with retinoblastoma.Retinoblastoma (Rb) is an intraocular tumour of children which occurs in both sporadic and hereditary forms (Sparkes, 1985;Cowell, 1985). The inheritance follows an autosomal dominant pattern with greater than 90% penetrance. Approximately 1:20 Rb patients carries a constitutional deletion on the long arm of chromosome 13 (Cowell et al., 1986a). The extent of the deletion varies from patient to patient but in all cases part of chromosome band 13ql4 is missing. It was suggested by several authors that the frequently deleted region was the proximal part of 13ql4 (Yunis & Ramsay 1978;Ward et al., 1984, Sparkes et al., 1984 and in some cases the deletion is confined to that region (Yunis & Ramsay, 1978). Other reports suggest a more distal location of the critical region in 13q14 (Cowell et al., 1986b, c). These observations suggest that, located in region 13ql4, there is genetic information important in determining predisposition to tumour formation.Analysis of chromosome deletions from Rb patients has also allowed Sparkes et al. (1980) to localise the esterase-D gene (ESD) in band 13ql4, although sufficiently distant from the Rb predisposition locus to allow separation by chromosome translocation breakpoints (Sparkes et al., 1984;Cowell et al., 1986c). The close physical proximity of the ESD and Rb loci raised the possibility that the naturally occurring electrophoretic variants of the ESD protein described by Hopkinson et al. (1973) could be used to track the inheritance of the predisposition through families (see Cowell, 1985 for discussion) and permit antenatal diagnosis. Sparkes et al. (1983) were able to show close linkage between the two loci in an analysis of three families thus locating the hereditary non-deletion form of the tumour to the same region of chromosome 13. The relatively rare occurrence of the familial form of Rb together with the low frequency of heterozygotes at the ESD locus have made it difficult to assess the exact recombination distance between the two loci. In this report we present data from 50 Rb families from the UK. By combining these data with other reports. Our aim was to obtain a more accurate estimate of the linkage between ESD and Rb. ESD phenotyping Phenotypes were determined by e...

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Section: Resultsmentioning

confidence: 99%

An assessment of the usefulness of electrophoretic variants of esterase-D in the antenatal diagnosis of retinoblastoma in the United Kingdom

Cowell¹,

Jay²,

Rutland³

et al. 1987

Br J Cancer

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“…8 Chorionic villus sampling was introduced in the early 80s and since then it has given a new dimension to prenatal diagnosis. 9 Chorionic villus sampling has the great advantage over midtrimester amniocentesis of producing early results. Moreover, rapid analytic techniques have significantly reduced the waiting time between sampling and diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Chorionic Villus Sampling (CVS) for Prenatal Diagnosis of Genetic Disorders in Bangladesh

Kazal

Chowdhury²,

Parveen

et al. 2017

Bangladesh J Obstet Gynaecol

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“…In addition to its diagnostic potential per se, ultrasound enhances the safety and effectiveness of other diagnostic methods such as amniocentesis, chorionic villus sampling, fetoscopy, and fetal blood sampling (15)(16)(17).…”

Section: Validated Techniques For Biological Markers Ultrasonographymentioning

confidence: 99%

“…Presumably, all diseases and toxic conditions will be defined in molecular terms and diagnosable from a few microliters of blood. This scenario may be upon us before we have the time to grasp the implications of this new technology (17).…”

Section: Molecular Probesmentioning

confidence: 99%

Physiologic Assessment of Fetal Compromise: Biomarkers of Toxic Exposure

Longo¹

1987

Environmental Health Perspectives

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Method of sampling chorionic villi in first trimester of pregnancy under guidance of real time ultrasound.

Cited by 174 publications

References 5 publications

An assessment of the usefulness of electrophoretic variants of esterase-D in the antenatal diagnosis of retinoblastoma in the United Kingdom

An assessment of the usefulness of electrophoretic variants of esterase-D in the antenatal diagnosis of retinoblastoma in the United Kingdom

Chorionic Villus Sampling (CVS) for Prenatal Diagnosis of Genetic Disorders in Bangladesh

Physiologic Assessment of Fetal Compromise: Biomarkers of Toxic Exposure

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