Advantages of QF-PCR
Analysis using QF-PCR can be performed on a minimal amount of tissue material, does not require cell culture and enables the lab to obtain results within one working day. Other advantages include efficient and sensitive detection of chromosomal aneuploidies and maternal cell contamination (MCC) in DNA samples prior to microarray analysis. It also enables reliable detection of Turner syndrome through the use of unique X-chromosome counting markers.
Rapid prenatal aneuploidy analysis
In pregnancies associated with an elevated risk of aneuploidy, genetic prenatal diagnosis can be performed through chorionic villus sampling or amniocentesis. Common indications for genetic prenatal diagnosis include a positive multiple biochemical marker screen, a high-risk result on noninvasive prenatal testing (NIPT), and abnormal ultrasound findings.
QF-PCR is useful for rapid aneuploidy detection, and is increasingly being used in prenatal diagnostics due to its ability to provide information in a cost-effective and timely manner. Due to its accuracy and rapid turnaround time, QF-PCR is the most popular first line test in genetic prenatal diagnosis of pregnancies at increased risk of aneuploidy of chromosomes 13, 18, 21, X, or Y.
Rapid pregnancy loss analysis
Women who have undergone one or more spontaneous abortions caused by chromosomal abnormalities are at increased risk for chromosomal abnormalities in future pregnancies. Cytogenetic studies of miscarriages are highly recommended even in the case of the first pregnancy loss. Identification of the possible cause of fetal loss significantly reduces the long-term psychological distress associated with a miscarriage and enables improved genetic counseling in future pregnancies. The most frequently observed numerical chromosomal abnormalities involve chromosomes 13, 15, 16, 18, 21, 22 and X.
Abnormal non‐invasive prenatal test results concordant withkaryotype of cytotrophoblast but not reflecting abnormal fetal karyotype. M. I.Srebniak et al., Ultrasound in Obstetrics & Gynecology, 2014, Volume 44, Issue 1p. 109-111