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.
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.
Authors: Y M Lo; M S Tein; T K Lau; C J Haines; T N Leung; P M Poon; J S Wainscoat; P J Johnson; A M Chang; N M Hjelm Journal: Am J Hum Genet Date: 1998-04 Impact factor: 11.025
Authors: Jeroen L A Pennings; Sandra Imholz; Ilse Zutt; Maria P H Koster; Jacqueline E Siljee; Annemieke de Vries; Peter C J I Schielen; Wendy Rodenburg Journal: Dis Markers Date: 2015-04-23 Impact factor: 3.434