分子与遗传医学

Effectiveness of QF-PCR, Karyotyping and Microarray in Detecting Clinically Significant Chromosomal Aberrations of Foetuses with Abnormal Findings on Ultrasound

Abstract

Salas PC, Vázquez-Rico I, León-Justel A, Carreto-Alba P and Granell-Escobar R

Objective: The aim of this study was to investigate in our area the clinical utility of QF-PCR, karyotyping and CMA for detecting chromosomal aberrations in fetuses with abnormal findings on first or second trimester ultrasound. Methods: We performed a retrospective analysis of 139 pregnancies with fetal structural anomaly or ultrasound markers. Results: Chromosomal abnormalities were identified in 28 patients (20.1% of all cases). Twenty-four of theses abnormalities (17.2% of total) were aneuploidies detected by QF-PCR. The remaining 4 chromosomal abnormalities (2.9% of cases) identified in this study were detected by CMA and/or by karyotyping, and only two genomic aberrations of 28 (1.4%) were identified by CMA but not by QF-PCR and conventional cytogenetics. Conclusion: QF-PCR must remain as the first-line test in prenatal diagnosis. Further studies with a bigger number of cases are desirable to corroborate the low additional detection rate of CMA analysis in our area.