講演情報
[PE6-1]Outcome and Etiology of Fetal Pleural Effusion, Fetal Ascites, and Hydrops Fetalis underwent Fetal Intervention: A 9-year retrospective observational cohort from a single institution
○Wu Wan-Ju1,2,3, Ma Gwo-Chin1,2, Chang Ting-Yu1,2, Lee Mei-Hui1, Chen Ming1,2,3 (1.Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan., 2.Department of Genomic Science and Technology, Changhua Christian Hospital Healthcare System, Changhua, Taiwan, 3.Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan)
Background: Hydrops fetalis, fetal pleural effusion, and fetal ascites are pathological accumulation of fluids in fetal compartments. Fetal interventions including shunting, fetal paracentesis, fetal thoracocentesis, and fetal pleurodesis was used to alleviate these fluid accumulations. The etiologies are varying and the outcomes are therefore uncertain.<br/>
Methods: We enrolled those who underwent fetal interventions for hydrops fetalis, fetal pleural effusion, and/or fetal ascites retrospectively from our institution during 2012-2021 to assess the etiologies and outcomes of these fetuses. Mandatory examinations including detailed sonographic fetal anatomy screening, fetal viability survey, chromosomal study, TORCH screening, parvovirus B19 PCR test and/or specific gene tests and Coombs test sonographic and specific genotyping were used to delineate the possible etiology. Long-term follow up was conducted by chart review and telephone interview.<br/>
Results: A total of 55 fetuses were enrolled. 48 of them had follow-up data. In which, 8 fetus ends in termination of pregnancy and stillbirth. 40 fetuses were born after fetal therapy. A total of 13 cases remained unknown etiology. Exome sequencing revealed three fetuses were affected with monogenic disorders when other genotyping modalities (including chromosome microarray and targeted small-gene-panel sequencing) failed to find the genetic causes. 25 babies were livebirths and 17 of them were healthy when submission.<br/>
Conclusions: Hydrops fetalis, fetal pleural effusion, and fetal ascites are heterogeneous in nature and the outcomes are hence varying even with fetal interventions. Exome sequencing may help confirming the diagnoses when monogenic inherited disorders are the causes and possibly alter the approaches of fetal intervention in the future.
Methods: We enrolled those who underwent fetal interventions for hydrops fetalis, fetal pleural effusion, and/or fetal ascites retrospectively from our institution during 2012-2021 to assess the etiologies and outcomes of these fetuses. Mandatory examinations including detailed sonographic fetal anatomy screening, fetal viability survey, chromosomal study, TORCH screening, parvovirus B19 PCR test and/or specific gene tests and Coombs test sonographic and specific genotyping were used to delineate the possible etiology. Long-term follow up was conducted by chart review and telephone interview.<br/>
Results: A total of 55 fetuses were enrolled. 48 of them had follow-up data. In which, 8 fetus ends in termination of pregnancy and stillbirth. 40 fetuses were born after fetal therapy. A total of 13 cases remained unknown etiology. Exome sequencing revealed three fetuses were affected with monogenic disorders when other genotyping modalities (including chromosome microarray and targeted small-gene-panel sequencing) failed to find the genetic causes. 25 babies were livebirths and 17 of them were healthy when submission.<br/>
Conclusions: Hydrops fetalis, fetal pleural effusion, and fetal ascites are heterogeneous in nature and the outcomes are hence varying even with fetal interventions. Exome sequencing may help confirming the diagnoses when monogenic inherited disorders are the causes and possibly alter the approaches of fetal intervention in the future.