Speaker

Dr. Gwo-Chin Ma

Deputy-Director of Department of Genomic Medicine,

Changhua Christian Hospital, Taiwan

Speaker's Biography

Dr. Ma is a research fellow of medical genetics at Changhua Christian Hospital, Taiwan. His work focuses on the genetics and genomics of human diseases. He and his team, under the supervision of Dr. Ming Chen, have developed various molecular techniques aiming to detect diverse genetic defects in embryos, fetuses, and affected individuals. The team was the pioneer of Taiwanese genetic laboratory providing, for example, chromosome microarray analysis (CMA), noninvasive prenatal genetic test (NIPT), and preimplantation genetic diagnosis/screening (PGD/PGS) for clinical services. Dr. Ma has published more than 65 papers, and his recent publication can be found in journals of Ultrasound in Obstetrics & Gynecology, Diagnostics, Micromachines, etc. With the extraordinary leadership and academic research, Dr. Ma is now the Deputy Director of the Department of Genomic Medicine and Director of Administration Center of Research Department, CCH, Changhua, Taiwan.

Topic

Prenatal Relevance of Maternal Copy Number Variation at Chromosome X in Male Fetuses

Abstract

Chromosome microarray analysis has been utilized for prenatal detection of copy number variations (CNVs), but a significant number of CNVs are still regarded as variants of unknown significance (VUS). CNVs at chromosome X (X-CNVs) represent a unique group of genetic changes similar to X-linked recessive monogenic disorders in that the prognosis in males is expected to be poor. Trio analysis is typically advised to patients with X-CNVs, but such an approach may be inadequate in prenatal settings since the clinical relevance is sometimes uninformative, particularly for the maternally inherited X-CNVs in male fetuses. Four healthy women whose male fetuses were found to have X-CNVs inherited from the mothers were included in this study. The X-CNVs were initially recognized as VUS or likely pathogenic in males, according to the publicly available information. After extending genetic analyses to male relatives of the maternal lineages, however, the relevance of the X-CNVs was reconsidered to be likely benign. The results highlight that an extended analysis to include more relatives, in addition to the parents, provides further information for genetic counseling when X-CNVs are encountered in prenatal settings.