講演情報
[IL5]Technical advances in genetic prenatal diagnosis
○Chen Ming (Changhua Christian Hospital Medical Center, Taiwan)
Maternal-fetal medicine (MFM) is a major subspecialty of obstetrics and gynecology, and its progress and complexity in recent years have sky-rocketed. Many new molecular and genetic modalities for screening/diagnosis have been introduced into clinical practice, and the landscape of MFM has changed dramatically in comparison to the condition even one decade ago. Screening tests like preeclampsia risk estimation, maternal serum fetal aneuploidy screening, maternal serum screening for neural tube defects, non-invasive prenatal testing, etc. have emerged one after another with dazzling speed. Meanwhile, diagnostic tests have also evolved from karyotyping, fluorescence in situ hybridization, quantitative polymerase chain reaction, linkage analysis, and capillary-electrophoresis-based Sanger sequencing, to chromosome microarrays and next-generation sequencing (including whole-exome sequencing or even whole-genome sequencing). On the other hand, one recent seminal study in Nature also demonstrated that human placenta is the only non-malignant human tissue to have extensive chromosomal and genomic aberrations, of which such somatic mutations are prevalent in human cancers. The molecular diagnosis of maternal fetal medicine, especially reproductive genetic perspective, is therefore an interesting and important topic to explore. The future trend or the Holy Grail of reproductive genetics includes the following directions, as revealed in the lecture topic: single cell, whole genome, and less invasiveness. The integration of artificial intelligence, semiconductor technology, precision machinery technology, and next generation sequencing will be and is currently generating exciting novel advancements.