Literature DB >> 12627425

Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR.

M C González-González1, M J Trujillo, M Rodríguez de Alba, M García-Hoyos, I Lorda-Sánchez, J Díaz-Recasens, C Ayuso, C Ramos.   

Abstract

The discovery of fetal DNA in maternal plasma from early pregnancies has led to new opportunities for clinical application. In the last few years there have been numerous reported applications, mainly fetal gender and RhD genotyping. The prenatal diagnosis of some inherited genetic diseases such as Huntington disease is also very frequently required in the prenatal diagnosis routine. We have successfully diagnosed, with a non-invasive procedure, an unaffected HD fetus at the 13th week of gestation using fetal DNA from maternal plasma and the quantitative fluorescent PCR method, which is one of the most sensitive ways to detect fetal DNA in maternal plasma at such an early time of gestation. Copyright 2003 John Wiley & Sons, Ltd.

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Year:  2003        PMID: 12627425     DOI: 10.1002/pd.570

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  13 in total

1.  Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma.

Authors:  Fiona M F Lun; Nancy B Y Tsui; K C Allen Chan; Tak Y Leung; Tze K Lau; Pimlak Charoenkwan; Katherine C K Chow; Wyatt Y W Lo; Chanane Wanapirak; Torpong Sanguansermsri; Charles R Cantor; Rossa W K Chiu; Y M Dennis Lo
Journal:  Proc Natl Acad Sci U S A       Date:  2008-12-05       Impact factor: 11.205

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

Authors:  M Cristina González-González; Maria Garcia-Hoyos; M Jose Trujillo-Tiebas; A Bustamante Aragonés; M Rodriguez de Alba; D Diego Alvarez; Joaquín Diaz-Recasens; Carmen Ayuso; Carmen Ramos
Journal:  J Assist Reprod Genet       Date:  2008-10-14       Impact factor: 3.412

3.  Progression of structural neuropathology in preclinical Huntington's disease: a tensor based morphometry study.

Authors:  C M Kipps; A J Duggins; N Mahant; L Gomes; J Ashburner; E A McCusker
Journal:  J Neurol Neurosurg Psychiatry       Date:  2005-05       Impact factor: 10.154

Review 4.  Tracking fetal development through molecular analysis of maternal biofluids.

Authors:  Andrea G Edlow; Diana W Bianchi
Journal:  Biochim Biophys Acta       Date:  2012-04-19

5.  Fetal DNA detection in maternal plasma throughout gestation.

Authors:  Silvia Galbiati; Maddalena Smid; Dania Gambini; Augusto Ferrari; Gabriella Restagno; Elsa Viora; Mario Campogrande; Simona Bastonero; Marco Pagliano; Stefano Calza; Maurizio Ferrari; Laura Cremonesi
Journal:  Hum Genet       Date:  2005-05-20       Impact factor: 4.132

6.  Non‑invasive prenatal diagnosis of thalassemia through multiplex PCR, target capture and next‑generation sequencing.

Authors:  Xu Yang; Yanchou Ye; Dongmei Fan; Sheng Lin; Ming Li; Hongying Hou; Jun Zhang; Xuexi Yang
Journal:  Mol Med Rep       Date:  2020-06-15       Impact factor: 2.952

7.  Non-invasive prenatal diagnosis using cell-free fetal nucleic acids in maternal plasma: Progress overview beyond predictive and personalized diagnosis.

Authors:  Georgia Tounta; Aggeliki Kolialexi; Nikolas Papantoniou; George Th Tsangaris; Emmanuel Kanavakis; Ariadni Mavrou
Journal:  EPMA J       Date:  2011-05-17       Impact factor: 6.543

8.  Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.

Authors:  Ana Bustamante-Aragones; Elena Vallespin; Marta Rodriguez de Alba; Maria Jose Trujillo-Tiebas; Cristina Gonzalez-Gonzalez; Dan Diego-Alvarez; Rosa Riveiro-Alvarez; Isabel Lorda-Sanchez; Carmen Ayuso; Carmen Ramos
Journal:  Mol Vis       Date:  2008-08-04       Impact factor: 2.367

Review 9.  Non-Invasive Prenatal Testing Using Cell Free DNA in Maternal Plasma: Recent Developments and Future Prospects.

Authors:  Peter Benn
Journal:  J Clin Med       Date:  2014-05-21       Impact factor: 4.241

10.  Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies.

Authors:  Ana Bustamante-Aragones; Sara Perlado-Marina; Maria José Trujillo-Tiebas; Jesús Gallego-Merlo; Isabel Lorda-Sanchez; Luz Rodríguez-Ramirez; Concepcion Linares; Corazón Hernandez; Marta Rodriguez de Alba
Journal:  J Clin Med       Date:  2014-08-14       Impact factor: 4.241

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