| Non-invasive prenatal diagnosis using cell-free fetal DNA in maternal plasma from PGD pregnancies. | |
| | |
MedLine Citation:
|
PMID: 20021720 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Preimplantation genetic diagnosis (PGD) is usually used to establish a non-affected pregnancy for those couples facing a genetic risk of having an affected child. However, an invasive test is still recommended to all PGD patients due to the risk of misdiagnosis. The discovery of cell-free fetal DNA in maternal plasma provides the possibility for noninvasive prenatal diagnosis. Studies have shown that fetal single-gene disorders can be detected in cell-free fetal DNA by the matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) assay with single-allele base extension reaction (SABER) approach or by the size-fractionation approach, whereby cell-free fetal DNA is enriched on the basis of its smaller size compared with maternal DNA fragments. Recent studies have indicated that a combination of the two approaches increases the accuracy of detection. This study combined the two methods and examined fetal paternally inherited gene mutations in maternal plasma obtained from four PGD-conducted pregnancies. The presence or absence of mutations was correctly detected in all cases. This combined method could be used for risk-free prenatal diagnosis of diseases caused by single-gene mutations, and in particular for couples who undergo PGD who opt not to perform invasive prenatal confirmation due to the risk of abortion. |
| | |
Authors:
|
Ying Li; Gheona Altarescu; Paul Renbaum; Talia Eldar-Geva; Ephrat Levy-Lahad; Ehud J Margalioth; Xiaoyan Zhong; Sinuhe Hahn; Wolfgang Holzgreve |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: Reproductive biomedicine online Volume: 19 ISSN: 1472-6491 ISO Abbreviation: Reprod. Biomed. Online Publication Date: 2009 Nov |
Date Detail:
|
Created Date: 2009-12-21 Completed Date: 2010-09-09 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 101122473 Medline TA: Reprod Biomed Online Country: England |
Other Details:
|
Languages: eng Pagination: 714-20 Citation Subset: IM |
Affiliation:
|
University of Women's Hospital, Department of Biomedicine, Basel, Switzerland. yingpluess@yahoo.com |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
DNA
/
blood* Female Genotype Gestational Age Humans Male Maternal-Fetal Exchange / genetics Polymorphism, Single Nucleotide Pregnancy Preimplantation Diagnosis Prenatal Diagnosis / methods* Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization |
| Chemical | |
Reg. No./Substance:
|
9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Effect of cryotop vitrification on preimplantation developmental competence of murine morula and bla...
Next Document: Obesity and insulin resistance associated with lower plasma vitamin B12 in PCOS.