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.
Conventional cytogenetic studies (karyotyping or FISH) are expensive and need a long period of time in order to obtain results. Moreover, they result in high rates of culture failure, misdiagnosis due to maternal contamination and cell overgrowth as well as insufficient quality of chromosome preparations. Cell culture may selectively yield normal karyotypes or selected abnormal karyotypes that survive in-vitro cell proliferation.
QF-PCR for pregnancy loss analysis
QF-PCR does not require cell culture, requires minute amounts of tissue material (Products of conception - POC) and allows the lab to obtain results within one working day. The Devyser Extend kit includes 42 genetic markers for aneuploidy analysis by QF-PCR of chromosomes 13, 15, 16, 18, 21, 22, X and Y. Two unique X-chromosome counting markers for reliable detection of Turner syndrome are also included in Devyser Extend.