Recent experience in prenatal diagnosis of fragile X

Howard‐Peebles, Patricia N.; Maddalena, Anne

doi:10.1002/ajmg.1320430126

Cited by 5 publications

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References 9 publications

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“…Treatment is not possible at the present time but accurate prenatal diagnosis and selective termination of affected fetuses can be offered,27 which is the chosen option in some families. 28 A genetic screening programme has some special aspects for consideration. It has been recommended by the World Health Organisation that when a new genetic test becomes available it should first be assessed with the families of affected people.29 A recent working party on screening for fragile X syndrome concluded that screening the general population is neither feasible nor ethical at present, and resources should be concentrated on diagnosing affected children and offering services to their families including DNA testing, genetic counselling, and prenatal diagnosis.…”

Section: Discussionmentioning

confidence: 99%

DNA testing for fragile X syndrome in schools for learning difficulties.

Slaney

Wilkie

Hirst

et al. 1995

Archives of Disease in Childhood

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Section: Discussionmentioning

confidence: 99%

DNA testing for fragile X syndrome in schools for learning difficulties.

Slaney

Wilkie

Hirst

et al. 1995

Archives of Disease in Childhood

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Molecular fragile X screening in normal populations

et al. 1996

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In December, 1993, we initiated a pilot project in which DNA fragile X (fraX) testing was offered during routine prenatal or genetic counseling to all pregnant women seen at the Genetics & IVF Institute, most of whom were referred for the indication of advanced maternal age. A brochure on fragile X syndrome was sent to each patient prior to her appointment and was reviewed by a counselor or physician during the counseling session. As of June 1995, 3,345 patients were offered testing; 474 women with no identified family history of mental retardation or learning disability and 214 women with a positive family history accepted the test on a self‐pay basis. The second population screened was 271 potential donors in our anonymous egg donor program. DNA from blood was tested by Southern blot using EcoRI/EagI and StB12.3. If an expansion was detected, CGG repeat number was determined by PCR‐based analysis. Among the 474 patients with unremarkable family histories, three fraX carriers were identified (repeat sizes = 60+), whereas none were found in the 214 patients with a positive family history. Among the potential egg donors, two high borderline patients were identified (repeat sizes = between 50 and 59). Our ongoing study indicates that screening of pregnant or preconceptual populations for fraX carrier status using DNA testing is accepted by many patients and is an important addition to current medical practice. © 1996 Wiley‐Liss, Inc.

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Prenatal diagnosis in known fragile X carriers

Maddalena

et al. 1994

Am. J. Med. Genet.

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Prenatal diagnosis for fragile X syndrome was performed in 34 pregnancies of 33 known carriers, on 22 chorionic villus samples (CVS), and 15 amniocentesis samples. Fetal and maternal DNA were analyzed by the EagI/EcoRI Southern blot of Rousseau et al. [1991: N Engl J Med 325:1673-1681], with detection of full mutations ensured by a second loading with brief electrophoresis. As a supplemental assay for full mutations, cytogenetic induction was performed in 20 cases. Positive cytogenetic results were helpful in confirming full mutations in CVS cases where the fetal DNA was intermediate in appearance, between a large premutation and a small full mutation. Of 8 mothers with full mutations, the fetal results were 5 full, 2 normal, and 1 premutation (whose mother was a full/pre compound heterozygote). Of 26 mothers with premutations, the fetal results were 5 full, 13 normal, 7 premutation, and 1 uninterpretable (maternal contamination). Maternal premutations were sized in kb by Southern blot and in CGG repeat number by PCR; the predicted correlation between maternal length and penetrance was seen. Follow-up studies include 3 full mutations and 2 premutations confirmed by DNA analysis at birth. Maternal contamination of CVS samples was encountered in 3 of 22 cases, illustrating the value of EagI in detecting maternal (lyonized) chromosomes.

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Recent experience in prenatal diagnosis of fragile X

Cited by 5 publications

References 9 publications

DNA testing for fragile X syndrome in schools for learning difficulties.

DNA testing for fragile X syndrome in schools for learning difficulties.

Molecular fragile X screening in normal populations

Prenatal diagnosis in known fragile X carriers

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