QF PCR - Prenatal
For the majority of pregnant women with a high-risk of common trisomy predicted by NIPS, QF-PCR stand-alone testing represents an economical and rapid method for prenatal diagnosis1
QF-PCR (Quantitative fluorescent PCR) is a PCR-based method used for detecting chromosomal aneuploidies. This technique involves amplifying polymorphic markers located on the chromosomes of interest to determine the number of copies of those chromosomes present per cell in fetal DNA, which is extracted from the mother's blood
Clinical utility
- Rapid Results: QF-PCR offers a quick turnaround time, providing timely results that aid in decision-making for prenatal management.
- Detection of Common Aneuploidies: QF-PCR is highly effective in detecting common chromosomal aneuploidies, such as trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome).
- Targeted Analysis: QF-PCR focuses on specific DNA markers located on the chromosomes of interest, allowing for targeted analysis of specific chromosomal abnormalities.
- High Sensitivity and Specificity: QF-PCR demonstrates high sensitivity and specificity in detecting common numerical chromosomal abnormalities, providing accurate results for clinical decision-making.
When is it recommended
- Advanced maternal age (typically 35 years or older)
- If NIPT or serum screening indicate an increased risk of chromosomal abnormalities,
- If there is a suspicion or clinical indication for specific chromosomal aneuploidy
- If there is a family history of chromosomal abnormalities or known genetic conditions,
- In cases where fetal ultrasound reveals structural abnormalities or markers associated with chromosomal abnormalities
- Previous Pregnancy with Chromosomal Abnormality
- Time-Sensitive Decision-Making
Test specification
| Technique | Variant types | TAT | Sample requirements |
|---|---|---|---|
| QF - PCR | STR | 3 -4 days | Amniotic Fluid, 3-4 ml Maternal Blood in EDTA, CVS |
References
- Jing, Xiaosha et al. “Clinical Selection of Prenatal Diagnostic Techniques Following Positive Noninvasive Prenatal Screening Results in Southwest China.” Frontiers in genetics vol. 12 811414. 28 Jan. 2022.
FAQs
Is QF-PCR a diagnostic test or a screening test?
QF-PCR is primarily considered a screening test rather than a definitive diagnostic test. Positive QF-PCR results should be followed by confirmatory diagnostic testing, such as chromosomal microarray analysis (CMA) or karyotyping, for a comprehensive assessment.
