QF-PCR

Fetal DNA QF-PCR

Study that analyzes STRs by quantitative fluorescent PCR (QF-PCR) in an automatic capillary electrophoresis sequencer (Applied Biosystems 3500 DX Genetic Analyzer). It detects in a single test the most frequent chromosomal numerical disorders or aneuploidies in humans:

Chromosome 21: Down syndrome (trisomy).
Chromosome 18: Edwards syndrome (trisomy).
Chromosome 13: Patau syndrome (trisomy).
X and Y sex chromosomes:
- Turner syndrome: X0 (monosomy).
- Klinefelter’s syndrome: XXY

This study detects 70-80% of chromosomal aberrations causing congenital anomalies (99.8-99.9% in low-risk pregnancies). It has the highest reliability with small sample amounts: less than 1 ml of amniotic fluid (without prior cell culture) or a drop of fetal blood from the umbilical cord. Results can be available within 24-48 hours.

Prenatal diagnosis of chromosomal abnormalities consists of the analysis of fetal cells present in amniotic fluid or chorionic villi. PCR-PCR is a polymerase chain reaction (PCR)-based technique that involves the amplification of repetitive genomic sequences (more specifically, of highly polymorphic, and therefore highly informative, STRs) located on the chromosomes of interest. The number of alleles per chromosome and the relative fluorescent intensity are analyzed, allowing to know the number of chromosomes present per cell.

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Samples susceptible to analysis

Amniotic fluid (with or without previous culture) obtained by amniocentesis.

Chorionic villi obtained by transcervical biopsy or abdominal puncture, with or without prior culture.

Fetal cord blood obtained by cordocentesis.

Abortive remains.

Advantages of QF-PCR technique over FISH technique

Reduced volume of fetal sample required

Fundamental in early amniocentesis (at the beginning of the 2nd trimester).

Reducing the risk of miscarriage during amniocentesis

Increased sensitivity of the analysis

Maximum reliability, accuracy, reproducibility and consistency of results.

Simplification and automation of diagnostic procedures:

Lower cost

Increased speed

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LabGenetics offers a comprehensive genetic diagnostic service, personalized, flexible to the requirements of health professionals, and continuously introduces new genetic diagnostics of hereditary and rare diseases in its portfolio of services. Our goal is to establish close collaborations that allow us to obtain accurate and appropriate results for each case, as quickly and economically as possible.