QF-PCR (Quantitative Fluorescence Polymerase Chain Reaction) is a rapid molecular genetic test used to identify common chromosomal aneuploidies. It examines chromosome-specific DNA markers to detect abnormal chromosome numbers, helping clinicians investigate suspected chromosomal conditions during pregnancy and in selected postnatal or pregnancy-loss cases.
What Does the Test Detect?
Depending on the laboratory testing protocol and clinical indication, QF-PCR can identify common trisomies 21, 18 and 13, associated with Down syndrome, Edwards syndrome and Patau syndrome. Some testing protocols also evaluate sex chromosome aneuploidies involving chromosomes X and Y.
When Is QF-PCR Recommended?
QF-PCR may be recommended following an abnormal or higher-chance prenatal screening result, ultrasound findings suggesting a chromosomal abnormality, or when rapid aneuploidy testing is clinically indicated. It can be performed on suitable prenatal samples such as chorionic villus sampling (CVS) or amniotic fluid, and may also be used for certain pregnancy-loss investigations.
QF-PCR does not detect every type of genetic or chromosomal abnormality. Additional testing may be recommended when clinically appropriate. Results should always be interpreted alongside clinical findings and other investigations.