Search

Introduction: Persistent right umbilical vein (PRUV) is an embryonic vascular abnormality. Recent studies suggested that the perinatal outcome was good and the risk of aneuploidy was low in isolated forms. Our purpose in this study was to assess the relation of PRUV with genetic abnormalities and demonstrate concomitant malformations and perinatal outcomes of these fetuses., Materials and Methods: This was a retrospective study examining consecutive pregnancies diagnosed as having PRUV in our hospital between 2017 and 2022., Results: A total of 41 patients were diagnosed as having fetuses with PRUV during the study period. Additional ultrasound findings were detected in 26 fetuses (63.4%). The most common associated finding was fetal growth restriction, which was found in 15 (36.5%) of 41 fetuses. This was followed by cardiovascular findings in eight (19.5%) fetuses. Genetic anomalies were detected in five (12.1%) fetuses. Down syndrome was detected in two fetuses (4.8%), nail-patella syndrome in one fetus (2.4%), duplication of 7p was found in one fetus (2.4%), and Potocki-Lupski syndrome (2.4%) was diagnosed in one fetus., Conclusion: In our study we found that even in isolated cases, genetic syndromes could coexist and fetal growth could be impaired so it should be closely monitored., (© 2024 Japan Society of Obstetrics and Gynecology.)

Aim: The aim of this study was to investigate the contribution of chromosomal microarray analysis (CMA) and next-generation sequencing (NGS) to genetic diagnosis in fetuses with normal karyotype who underwent invasive testing for different indications., Methods: The results of invasive genetic testing performed at a tertiary center between September 2020 and March 2022 were retrospectively analyzed. Indications for invasive tests were classified as fetal structural malformation, presence of soft markers, and high risk in screening tests. CMA results were classified as pathogenic or likely pathogenic (pCNVs), benign (bCNVs), and variants of unknown clinical significance (VOUS)., Results: A total of 830 invasive tests were performed and aneuploidy was detected in 11.2% of the fetuses. CMA was performed in 465 fetuses with normal karyotype, and pCNVs were detected in 6.9%. pCNVs were detected in 8.2% of fetuses with structural malformations, 6.5% in soft markers, and 4.7% in high risk in screening tests. Pathogenic variants were detected by NGS in 33.8% of fetuses with bCNVs., Conclusions: pCNVs can be significantly detected not only in fetuses with structural malformations, but also in invasive testing with other indications. NGS significantly contributes to genetic diagnosis in fetuses with structural malformations., (© 2022 Japan Society of Obstetrics and Gynecology.)