Fast Prenatal Diagnosis of Chromosomal Aberrations by QF-PCR
- Fetal DNA study, by STRs analysis, using a quantitative fluorescent PCR (QF-PCR) and sequencing by capillary electrophoresis (Applied Biosystems 3500 DX Genetic Analyzer)
- Detection, in a single step, of the most frequent aneuploidies:
- Chromosome 21: Down Syndrome (trisomy).
- Chromosome 18: Edwards Syndrome (trisomy).
- Chromosome 13: Patau Syndrome (trisomy).
- Sexual Chromosomes (X and Y):
- Turner Syndrome: X0 (monosomy)
- Klinefelter Syndrome: XXY
- Other aneuploidies: XXX; XYY
- 70-80% of chromosomal aberrations causing congenital defects are detected (99.8-99.9% in low risk pregnancies).
- Maximum reliability with a small amount of sample:
- Less than 1ml of amniotic liquid (not previously cultured).
- 1 drop of blood from fetal umbilical cord.
- Results in 24-48 hours.
Type of Samples:
- Amniotic liquid (not previously cultured) obtained by amniocentesis.
- Chorionic villi obtained by transcervical biopsy (not previously cultured)
- Fetal blood from umbilical cord obtained by cordocentesis.
- Abortive remains.
QF-PCR Advantages versus FISH
- Less amount of fetal sample is required:
- Very important in early amniocentesis (at the beginning of 2nd trimester)
- Reduce the abortion risk associated to the amniocentesis
- Higher sensitivity of the analysis
- Results with the maximum reliability, accuracy, reproducibility and robustness
- Simplification and automatization of the procedures:
For more information on prenatal diagnosis, or if you would like to receive personal care in our laboratory in Madrid. One of our experts will inform you of everything without commitment.
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