| Prenatal cytogenetic diagnosis of the fragile X syndrome in amniotic fluid: calculation of accuracy. | |
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MedLine Citation:
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PMID: 1605188 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We have completed over 350 prenatal diagnoses for the fragile X [fra(X)] syndrome using amniotic fluid, chorion villus specimen (CVS), fetal blood sampling and molecular methods. A total of 300 amniotic fluid specimens have been received for prenatal diagnosis of the fra(X) syndrome. There was a documented family history of fra(X) in 170/300 amniotic fluid cases, and 23/170 were correctly identified as cytogenetically fra(X) positive (16 male; 7 female). Three males were false-negative, and one female was fra(X) negative but identified as a probable carrier by RFLPs. No fra(X) positive or false-negative results were found in the absence of a fra(X) family history. Because the a priori risk for the fra(X) syndrome for each pregnancy was different and widely variable, the determination of the accuracy of the prenatal diagnosis results requires a consideration of these variables. On this basis, the calculated accuracy of prenatal cytogenetic diagnosis for the fra(X) syndrome is approximately 97%. This accuracy can be improved further with the simultaneous use of molecular methods, especially in view of recent developments. |
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Authors:
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L R Shapiro; P L Wilmot; G S Fisch |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 43 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1992 Apr 15-May 1 |
Date Detail:
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Created Date: 1992-07-16 Completed Date: 1992-07-16 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 170-3 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, New York Medical College, Thiells. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Cytogenetics
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statistics & numerical data* Female Fragile X Syndrome / diagnosis*, genetics Humans Male Pregnancy Prenatal Diagnosis / statistics & numerical data* Sensitivity and Specificity |
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