In the prenatal diagnosis field, amniocentesis is used as standard diagnostic method to identify chromosomal aberrations and genetic disorders of the fetus. But though a definite diagnosis is possible, amniotic fluid sampling remains an invasive method and puts the patient at risk for miscarriage. Because of this there has been a widespread search for biomarkers of chromosomal aberrations, unique markers which could be used for a safer yet reliable diagnostic procedure. In this study we used a protein chip system to examine protein differences in the amniotic fluid from normal chromosome and trisomy 21 pregnancies. This system, an up-to-date biomarker search technique, was developed over the past few years as an aid to proteomic analysis. Amniotic fluid supernatant (chromosome normal pregnancy [50 samples], trisomy 21 pregnancy [7 samples] : all samples between15 and 16 gestational weeks) were subjected to protein profile analysis using this protein chip system. The entire quantity of protein expressed in the amniotic fluid supernatant was the same in both the chromosome normal group and the trisomy 21 group. Furthermore, patients in both groups expressed a maximum of 274 types of protein. However, when inspected to determine individual expression patterns in the chromosome normal and trisomy 21 groups, significant differences were detected in the expressed quantity of 5 of the 274 protein types. Of these protein types, 3 had a significantly higher expression in the chromosome normal group, and 2 in the trisomy 21 group. Even though our study analysis did not allow specific identification of these proteins, knowledge of the protein expression profile could nevertheless be an important diagnostic tool in the future. In addition, although this research used amniotic fluid supernatant, these low-molecular proteins are also present in maternal blood, and we believe that our results could be reproduced by direct analysis of maternal blood samples. And if we can see significant differences in protein density, even though we do not know specific protein types, this information will be sufficient to develop a reliable and safe testing method for detecting chromosomal aberration pregnancy. [Adv Obstet Gynecol, 60 (2) : 55-64, 2008 (H20.5)]
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