ArticleJournal of genetic counseling1994
Molecular carrier testing for the fragile X syndrome: Issues for genetic counselors.
Article in Journal of genetic counseling, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
0 citing papers in PubMed.
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Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Molecular analysis of the fragile X (FMR-1) gene identifies female fragile X carriers, but appropriate genetic counseling can only be provided if the limitations of the testing methods are understood. Molecular analysis of this gene is achieved with both the polymerase chain reaction (PCR) and Southern blot techniques. PCR is faster and can determine the actual number of CGG repeats, which modifies genetic counseling substantially. However, for a sizeable percentage of women, PCR alone is not conclusive, and Southern analysis is necessary to complete the study. While this procedure takes longer, it is usually conclusive. Women who present for genetic counseling and carrier testing in the second trimester of pregnancy need this information quickly, and for them the turn-around time is paramount. It is critical that genetic counselors understand these methods so that they can educate their clients and facilitate appropriate follow-up.
Identifiers
24234009What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.