Quantitative-fluorescent-PCR versus full karyotyping in prenatal diagnosis of common chromosome aneuploidies in southern Spain

Abstract

Detailed prenatal ultrasound scan can reduce the need for conventional karyotyping as a complement to QF-PCR in most prenatal samples, offering rapid results and reducing parental anxiety and healthcare costs.

High accuracy of quantitative fluorescence polymerase chain reaction combined with non‑invasive pre‑natal testing for mid‑pregnancy diagnosis of common fetal aneuploidies: A single‑center experience in China

“…The value of QF-PCR as a screening test is controversial, but it may be used as a mid-pregnancy test to confirm the diagnosis of common fetal aneuploidies (11)(12)(13)(14). In this light, the present study aimed to examine the value of QF-PCR in diagnostic karyotype confirmation and the impact of the parental origin and meiosis stage on the aneuploidy.…”

“…QF-PCR has high High accuracy of quantitative fluorescence polymerase chain reaction combined with non-invasive pre-natal testing for mid-pregnancy diagnosis of common fetal aneuploidies: A single-center experience in China sensitivity for aneuploidies involving chromosomes 21, 18, 13, X and Y, but not for rare aneuploidies. QF-PCR is increasingly considered as a complementary investigation (9)(10)(11)(12)(13) or as an alternative to conventional cytogenetic analysis.…”

“…As the associated conditions cannot be cured and their impact on the parents' and child's life and society are non-negligible, the parents desire result confirmation as soon as possible when the screening results indicate a high risk of aneuploidy. The value of QF-PCR as a screening method is controversial (11)(12)(13)(14), but it may be used as a mid-pregnancy confirmation test if common fetal aneuploidies have been identified. Therefore, the aim of the present study was to examine the value of QF-PCR for diagnostic confirmation of aneuploidies and the impact of the parental origin and meiosis stage on the detected aneuploidy.…”

Assessing the cost of implementing the 2011 Society of Obstetricians and Gynecologists of Canada and Canadian College of Medical Genetics practice guidelines on the detection of fetal aneuploidies

“…The stated benefits of the 2011 SOGC–CCMG guidelines are as follows: to provide rapid and accurate results for pregnancies at risk for a common aneuploidy, promote better use of laboratory resources and reduce the cost of prenatal diagnosis . A number of studies have assessed the accuracy and rapidity of QF‐PCR testing in this setting showing that only a small percent of abnormal cases would be missed by replacing karyotype with QF‐PCR for pregnancies at increased risk for a common aneuploidy . Pre‐test genetic counselling is important to help patients understand the limitations of QF‐PCR.…”

“…1 A number of studies have assessed the accuracy and rapidity of QF-PCR testing in this setting showing that only a small percent of abnormal cases would be missed by replacing karyotype with QF-PCR for pregnancies at increased risk for a common aneuploidy. 4,7,8,16,17 Pre-test genetic counselling is important to help patients understand the limitations of QF-PCR. This is the first study to assess the second benefit described by Langlois et al through the implementation of the SOGC-CCMG guidelines.…”