Sensitivity of DCSR3/GAPDH ratio using quantitative real-time PCR in the rapid prenatal diagnosis for down syndrome.
BACKGROUND
Down syndrome, the most common birth defect, is caused by trisomy 21. The aim of this study was to investigate whether quantitative real-time PCR can be used as a sensitive technique for prenatal diagnosis of Down syndrome.


METHODS
We used a quantitative real-time PCR technique to measure the gene dosage of the Down syndrome critical region (DSCR3) by calculating the ratio of DSCR3 to GAPDH using standard curves. Sex-determining region Y was simultaneously detected by real-time PCR to identify the sex of the fetus.


RESULTS
The DSCR3/GAPDH ratio of the trisomy 21 fetus samples and that of normal controls was 0.72 +/- 0.34 and 0.54 +/- 0.18, respectively.


CONCLUSIONS
In this study, there was no significant difference in the DSCR3/GAPDH ratio between the fetal and peripheral blood DNA samples of trisomy 21 fetuses and those of normal controls.
Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genomic Research Division, National Research Centre, Cairo, Egypt. sanaahelmy@hotmail.com
Sanaa M H
SM
Helmy
Somaya
S
Ismail
Randa
R
Bassiouni
Khaled R
KR
Gaber
D002891:Chromosomes, Human, Pair 21; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics; D018628:Gene Dosage; D005987:Glyceraldehyde-3-Phosphate Dehydrogenases / Q000235:genetics; D006801:Humans; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis / Q000379:methods*; D012680:Sensitivity and Specificity
D005987:Glyceraldehyde-3-Phosphate Dehydrogenases