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. © 2008 New York Academy of Sciences.
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Data di pubblicazione: | 2008 | |
Titolo: | Fetal sex identification in maternal plasma by means of short tandem repeats on chromosome X | |
Autori: | Vecchione, Gennaro; Tomaiuolo, Michela; Sarno, Michelina; Colaizzo, Donatella; Petraroli, Rosella; Matteo, Maria; Greco, Pantaleo; Grandone, Elvira; Margaglione, Maurizio | |
Rivista: | ANNALS OF THE NEW YORK ACADEMY OF SCIENCES | |
Parole Chiave: | Fetal sex; Maternal plasma; X chromosome short tandem repeat; Adult; Chromosomes, Human, X; Female; Fetus; Genetic Markers; Genotype; Humans; Male; Microsatellite Repeats; Pregnancy; Prenatal Diagnosis; Reproducibility of Results; Sensitivity and Specificity; Sex Determination Analysis; Biochemistry, Genetics and Molecular Biology (all) | |
Abstract in inglese: | 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. © 2008 New York Academy of Sciences. | |
Digital Object Identifier (DOI): | 10.1196/annals.1448.038 | |
Handle: | http://hdl.handle.net/11392/2372082 | |
Appare nelle tipologie: | 03.1 Articolo su rivista |