Prenatal diagnosis of fragile X syndrome

Hirst, Mark C.; Knight, Samantha J. L.; Davies, Kay E.; Cross, Gareth; Ocraft, Kevin; Raeburn, Sandy; Heeger, Shauna; Eunpu, Deborah L.; Lindenbaum, R H; Dobkin, C; Ding, Xiaohua; Jenkins, EdmundC.; Krawczun, MichaelS.; Brown, W. Ted; Goonewardena, P.; Willner, Judy; Benson, Cindy; Heitz, Dominique; Rousseau, François

doi:10.1016/0140-6736(91)91831-e

Cited by 33 publications

(7 citation statements)

References 8 publications

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“…It was our hope to confirm Kerem's et al's [1988] and Kimchi-Sarfaty's et al's [1991] results and thereby provide a more rapid indicator of FRAXA than fragile site analysis. It may have complemented the recent, more rapid, molecular applications to fra(X) prenatal diagnosis [Dobkin et al, 1991;Hirst et al, 1991;Rousseau et al, 1991;Sutherland et al, 19911. …”

Section: Discussionmentioning

confidence: 98%

Fra(X) prenatal diagnosis: Are endoreduplicated and polyploid cells useful diagnostic criteria?

Krawczun¹,

Duncan²,

Stark‐Houck³

et al. 1992

Am. J. Med. Genet.

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Cytogenetic and molecular protocols for prenatal ascertainment of the fragile X syndrome and the associated fragile site at Xq27.3 are relatively reliable. Any new diagnostic method which becomes available still elicits much interest. Kimchi-Sarfaty et al. [1991] reported an increase in frequency of endoreduplication and polyploidy in fra(X) lymphoblasts and amniocytes when cultured with methotrexate (MTX) or fluorodeoxyuridine. Recently we analyzed the endoreduplication/polyploidy system using amniotic fluid, chorionic villus, and fibroblasts from fra(X) positive abortus cell cultures and from control samples. We observed no increased expression of endoreduplicated or polyploid cells in fra(X) positive amniocytes after exposure to MTX. The data presented here clearly dispute the value of endoreduplication/polyploid scoring as a diagnostic aid in prenatal fra(X) analysis.

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Section: Discussionmentioning

confidence: 98%

Fra(X) prenatal diagnosis: Are endoreduplicated and polyploid cells useful diagnostic criteria?

Krawczun¹,

Duncan²,

Stark‐Houck³

et al. 1992

Am. J. Med. Genet.

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“…In her 1991 report, Webb further suggests that the distribution of X-inactivation for fra(X) positive CVS cells' may predict the phenotype of a female fetus. In addition, it is possible that both "somatic mosaicism" for the size of the CGG repeat in FMR-1 as well as the degree of methylation in the CpG island, adjacent to FMR-1, may help to explain these differences Heitz et al, 1991;OberlC et al, 1991;Yu et al, 1991;Verkerk et al, 1991;Pieretti et al, 19911, including application to the prenatal diagnosis of FRAXA [Dobkin et al, 1991;Hirst et al, 1991;Rousseau et al, 1991;Sutherland et al, 19911. Both of the low frequency cases were clearly confirmed as positive by PUBS and/or DNA linkage studies. We have also reviewed a number of other female prenatal fra(X) determinations where the fra(X) frequencies were relatively low and have noted consistent, strikingly increased levels of cytogenetic fra(X) expression postnatally.…”

Section: Conclusion/discussionmentioning

confidence: 98%

Prenatal detection of Fra(X)(q27.3) in female identical twins: Reliability of low level cytogenetic prenatal expression in females

et al. 1992

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“…Fetal blood sampling (FBS) has been less utilized due to limited availability and higher risk. The world experience is well over 400 at-risk pregnancies, many o f which also utilized DNA polymorphism analysis, and recently, direct DNA testing [Hirst et al, 1991;Dobkin et al, 1991;Sutherland et al, 19911. This experience has established basic requirements for reliable prenatal diagnosis of fra(X) especially in males, In females, the situation is more complex since positive females can range phenotypically from normal to severely retarded [recently reviewed by Tommerup, 1989 and Jenkins et al, 19911. This report summarizes our 3.5-year experience (March, 1988).…”

Section: Cytogenetic Prenatal Diagnosis Of Fragile X [Fra(x)]mentioning

confidence: 98%

Recent experience in prenatal diagnosis of fragile X

Howard‐Peebles

Maddalena

1992

Am. J. Med. Genet.

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Our experience with 48 prenatal fragile X cases (35 amniocenteses; 13 chorionic villi samplings) is summarized. Of these 48 cases, 18 consultands were known to be carriers of fragile X. No cytogenetic false negatives or positives were identified but 2 cases were uninterpretable. Cytogenetic recommendations include: 1) Ten or more days recovery time after growth in Chang medium, and 2) use of 3-4 media/inducer systems with duplicate harvests. Direct DNA probe testing will likely be the method of choice for prenatal diagnosis after sufficient data are collected to verify interpretation. Until then, both cytogenetic and direct DNA techniques should be utilized.

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Prenatal diagnosis of fragile X syndrome

Cited by 33 publications

References 8 publications

Fra(X) prenatal diagnosis: Are endoreduplicated and polyploid cells useful diagnostic criteria?

Fra(X) prenatal diagnosis: Are endoreduplicated and polyploid cells useful diagnostic criteria?

Prenatal detection of Fra(X)(q27.3) in female identical twins: Reliability of low level cytogenetic prenatal expression in females

Recent experience in prenatal diagnosis of fragile X

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