title: 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.
authors.affiliation: University of Women's Hospital, Department of Biomedicine, Basel, Switzerland. yingpluess@yahoo.com
authors.forename: Ying
authors.initials: Y
authors.lastname: Li
authors.forename: Gheona
authors.initials: G
authors.lastname: Altarescu
authors.forename: Paul
authors.initials: P
authors.lastname: Renbaum
authors.forename: Talia
authors.initials: T
authors.lastname: Eldar-Geva
authors.forename: Ephrat
authors.initials: E
authors.lastname: Levy-Lahad
authors.forename: Ehud J
authors.initials: EJ
authors.lastname: Margalioth
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Zhong
authors.forename: Sinuhe
authors.initials: S
authors.lastname: Hahn
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Holzgreve
mesh_terms: D004247:DNA / Q000097:blood*; D005260:Female; D005838:Genotype; D005865:Gestational Age; D006801:Humans; D008297:Male; D008431:Maternal-Fetal Exchange / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D011296:Prenatal Diagnosis / Q000379:methods*; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
chemical_list: D004247:DNA