Huntington disease–unaffected fetus diagnosed from maternal plasma using QF‐PCR

González‐González, María; Trujillo, M.J.; Alba, Marta Rodríguez de; Garcia‐Hoyos, Maria; Lorda‐Sánchez, Isabel; Díaz-Recasens, J.; Ayuso, Carmen; Ramos, Carmen

doi:10.1002/pd.570

Cited by 82 publications

(57 citation statements)

References 13 publications

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“…The second main purpose for prenatal diagnosis is the diagnosis of single gene disorders. Our group has focused on the non-invasive use of fetal DNA in this field [4][5][6], and some investigators have also considered this idea [7].…”

Section: Introductionmentioning

confidence: 99%

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Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease

González‐González

Garcia‐Hoyos

Trujillo-Tiebas

et al. 2008

J Assist Reprod Genet

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Purpose We focused on the improvements of prenatal diagnosis by the analysis of DNA from maternal plasma, using Huntington disease as a model of disease. Methods We studied plasma from a pregnancy at risk of having a fetus affected with Huntington disease by the use of two direct analysis of the mutation and polymorphic STRs. Results Direct methods were not informative. Analysis with STRs revealed the presence of the allele that does not cosegregate with the disease, thus the fetus was healthy. Conclusions This strategy is very useful to face complex cases when the direct study is not informative not only for Huntington disease but also for many other disorders.

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Section: Introductionmentioning

confidence: 99%

“…We have been working in this area using QF-PCR [5,6] in Huntington disease (HD) because we are a centre of reference of this disorder.…”

Section: Introductionmentioning

confidence: 99%

Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease

González‐González

Garcia‐Hoyos

Trujillo-Tiebas

et al. 2008

J Assist Reprod Genet

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“…Recently, Chiu et al (18 ) tested DNA isolated from the maternal circulation for the presence of ␤-thalassemia major, and González-González et al (19 ) used maternal plasma to detect cystic fibrosis (CF) mutation Q890X in the fetus. Additionally, González-González et al (20 ) were able to confirm that a fetus had inherited the wild-type allele for the gene that causes Huntington disease from a father who was an asymptomatic carrier of the mutation.…”

mentioning

confidence: 91%

“…Reported diagnostic procedures are not generally appli-cable to all paternally inherited mutations; they remain limited to specific situations in which the mutation type makes detection of genetic alterations relatively easy. This includes mutations where the nucleotide sequence of the affected allele is changed in such a way that it can be recognized by a restriction enzyme (15,19 ), cases in which there is a deletion of several nucleotides (18 ), or cases in which there is an expansion of polymorphic nucleotide repeats (14,20 ).…”

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confidence: 99%

Improvement in Sensitivity of Allele-specific PCR Facilitates Reliable Noninvasive Prenatal Detection of Cystic Fibrosis

et al. 2004

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Background: Cell-free fetal DNA circulating in maternal blood has potential as a safer alternative to invasive methods of prenatal testing for paternally inherited genetic alterations, such as cystic fibrosis (CF) mutations. Methods: We used allele-specific PCR to detect mutated CF D1152H DNA in the presence of an excess of the corresponding wild-type sequence. Pfx buffer (Invitrogen) containing replication accessory proteins and Taq polymerase with no proofreading activity was combined with TaqMaster PCR Enhancer (Eppendorf) to suppress nonspecific amplification of the wild-type allele. The procedure was tested on DNA isolated from plasma drawn from 11 pregnant women (gestational age, 11-19.2 weeks), with mutation confirmation by chorionic villus sampling. Results: The method detected 5 copies of the CF D1152H mutant allele in the presence of up to ϳ100 000 copies of wild-type allele without interference from the wild-type sequence. The D1152H mutation was correctly identified in one positive sample; the only false-positive result was seen in a mishandled sample. Conclusions: This procedure allows for reliable detection of the paternally inherited D1152H mutation and has potential application for detection of other mutations, which may help reduce the need for invasive testing.

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“…In the case of autosomal dominant diseases, a positive detection signifies the inheritance of the disease in the fetus. Diseases in which prenatal testing has been successfully achieved by fetal DNA maternal plasma include achondroplasia [68], myotonic dystrophy [69] and Huntington's disease [70]. On the other hand, the opposite interpretation applies in cases of autosomal recessive diseases.…”

Section: Prenatal Diagnosticsmentioning

confidence: 99%

Circulating nucleic acids as a new diagnostic tool

Urbanová

Plzák²,

Strnad

et al. 2010

Cellular and Molecular Biology Letters

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The discovery of circulating nucleic acids in the 1940s opened up new possibilities for the non-invasive detection, monitoring and screening of various human disorders. Several tumour markers that enable early cancer detection or tumour behaviour prediction have been detected in the plasma of cancer patients. Maternal plasma analysis can be used to detect certain fetal abnormalities, with the quantification of cell-free nucleic acids used to screen for several pregnancy-associated disorders. Some other applications are in transplant monitoring and graft rejection assessment, and in certain medical emergencies such as trauma and burn severity stratification. Many studies have yielded promising results in this field, but the techniques have yet to be applied in routine clinical practice. Large-scale studies using similar technologies and a broad spectrum of patients are still needed to verify the results of the various studies.

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Huntington disease–unaffected fetus diagnosed from maternal plasma using QF‐PCR

Cited by 82 publications

References 13 publications

Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease

Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease

Improvement in Sensitivity of Allele-specific PCR Facilitates Reliable Noninvasive Prenatal Detection of Cystic Fibrosis

Circulating nucleic acids as a new diagnostic tool

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