Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2008-10-7
pubmed:abstractText
Analysis of fetal DNA in maternal plasma has recently been introduced as a new method for noninvasive prenatal diagnosis. In the majority of cases, the Y chromosome-specific sequences are commonly used as a fetus-specific marker with a high risk of false-negative cases. We attempted to develop a sensitive and reliable X chromosome short tandem repeat (STR) multiplex PCR amplification system that is suitable for the amplification of short-sized templates of free fetal DNA. Because of specific characteristics of fetal DNA in maternal plasma, cell-free fetal DNA is smaller than corresponding maternal DNA, and so we selected 10 X-STR loci in which the allele size was 250 bp. In addition, fetal sex was also investigated using the amelogenin gene in the same multiplex assay. Twenty-six women were enrolled in the study. Eight of 26 total fetuses analyzed were male and 18 were female. In the whole sample, X-STRs were informative with a mean of 4.84 +/- 1.43. A mean of 2.67 +/- 1.28 X-STR markers per sample (range 1-5) of paternally inherited fetal alleles were detected in pregnant women carrying a female fetus. In all cases, blind determination of fetal sex by means of the identification of amelogenin and X-STR markers was confirmed by fetal karyotyping. This study showed that this noninvasive technique is a reliable and accurate tool to investigate free fetal DNA in pregnancies within the first trimester and could be widely used in clinical research and diagnosis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1749-6632
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
1137
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
148-56
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Fetal sex identification in maternal plasma by means of short tandem repeats on chromosome x.
pubmed:affiliation
Unità di Aterosclerosi e Trombosi, S. Giovanni Rotondo, Foggia, Italy. g.vecchione@operapadrepio.it
pubmed:publicationType
Journal Article, Evaluation Studies