Validation of Molecular Karyotyping Techniques for Rapid Prenatal Diagnosis of Common Aneuploidies

• Main Authors: Prapatsorn Areesirisuk, Takol Chareonsirisuthigul, Somsri Pitukkijronnakorn, Punyu Panburana, Budsaba Rerkamnuaychoke, ประภัสสร อารีสิริสุข, ถกล เจริญศิริสุทธิกุล, สมศรี พิทักษ์กิจรณกร, พัญญู พันธ์บูรณะ, บุษบา ฤกษ์อำนวยโชค
• Other Authors: Mahidol University. Faculty of Medicine Ramathibodi Hospital. Department of Pathology
• Format: Original Article
• Language: English
• Published: 2022
• Subjects: BACs-on-Beads; QF-PCR; Common aneuploidies
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/79595
• Institution: Mahidol University

BACs-on-Beads (BoBs) technology and Quantitative fluorescent PCR (QF-PCR) are recent molecular karyotping methods which have been used for prenatal diagnosis of the most common aneuploidies. Both of them are rapid, cost-effective and suitable for automation and can detect most abnormalities diagnosed by conventional karyotyping. The objective of this study was to evaluate the performance of bote molecular-based techniques for the detection of chromosomes 13, 18, 21, X and Y. The results obtained from 22 prenatal samples in which BACs-on-Beads technology (KaryoLiteTM BoBs and PrenatalTM BoBs), QF-PCR and conventional karyotype had been performed. We found that concordant KaryoLiteTM BoBs, PrenatalTM BoBs, QF-PCR and karyotype results were obtained in 95.5% (21/22) of the commonaneuploidies. Only a 49,xxxxx sample could not be detected by BoBs assay and QF-PCR. In conclusions, BoBs technology and QF-PCR are the reliable methods to detect common aneuploidies and should replace conventional sytogenetic analysis whenever prenatal testing is performed solely because of an increased risk of chromosomes 13, 18, 21, X and Y. Cytogenetic follow-up of molecular karyotyping findings is recommended to rule out mosaicism, ,aternal cell contamination, balanced rearrangement and polyploidy.