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Non-invasive prenatal diagnosis using cell-free fetal DNA in maternal plasma from PGD pregnancies.

Abstract：

: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.

journal_name

Reprod Biomed Online

journal_title

Reproductive biomedicine online

authors

Li Y,Altarescu G,Renbaum P,Eldar-Geva T,Levy-Lahad E,Margalioth EJ,Zhong X,Hahn S,Holzgreve W

doi

10.1016/j.rbmo.2009.09.005

subject

Has Abstract

pub_date

2009-11-01 00:00:00

pages

714-20

issue

5

eissn

1472-6483

issn

1472-6491

pii

S1472-6483(09)00069-8

journal_volume

19

pub_type

杂志文章

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