Exploring SOD1 gene for the detection of fetal Down syndrome

• Main Authors: Karrupiah, Thilakavathy, Rosli, Rozita, Baskaran, T. P.
• Format: Article
• Language: English
• Published: CIC Edizioni Internazionali 2008
• Online Access: http://psasir.upm.edu.my/id/eprint/14662/1/Exploring%20SOD1%20gene%20for%20the%20detection%20of%20fetal%20down%20syndrome.pdf; http://psasir.upm.edu.my/id/eprint/14662/; https://www.prenatalmedicine.com/index.php?PAGE=articolo_dett&ID_ISSUE=391&id_article=3390
• Institution: Universiti Putra Malaysia

Objective: Fetal cells and circulating cellfree fetal DNA increases in the maternal circulation in women carrying trisomy 21 fetus. Methods: We attempted the use of superoxide dismutase (SOD-1) gene, which is located at the Down Syndrome Critical Region, to overcome this situation for the prenatal screening of Down syndrome. The prospective of the gene using real-time quantitative polymerase chain reaction was explored. Results: The level of SOD-1 sequences is significantly elevated in the third trimester normal pregnancies (mean = 11728 copies/μl) when compared to the second trimester (mean = 5705.6 copies/μl), (p<0.005) and non pregnant normal women (mean = 3580.2 copies/μl), (p<0.0001). Down syndrome pregnancies have the greatest elevation compared to all the three trimesters of normal singleton pregnancies and twin pregnancies, p<0.05. Conclusions: These data indicate that a quantitative analysis using a gene associated with a disorder could be used in screening for the prenatal diagnosis of fetal aneuploidies regardless of the sex of the fetus.