EP18.20: Association of chromosomal abnormalities and cardiac defects with increased nuchal translucency and/or tricuspid regurgitation in South Indian population
Year: 2024
Type: conference-abstract
Abstract: for pathogenic/likely pathogenic variants and the rate of incidental findings.Results: During the study period, 154 cases were included.33% of provided WES was for multiple organ anomalies.Among the isolated anomalies, WES was performed for increased nuchal translucency (NT) ≥3.5mm (21%), anomalies in the corpus callosum (CC) (19%), fetal cardiac anomalies (7%), musculoskeletal disorders (5%), and other indications.Therefore, WES identified an incremental yield of 19% for pathogenic or likely pathogenic variants.We identified a diagnostic rate of 11% for agenesis of the CC, 5% for hypoplastic CC, and 15% for increased NT (variants referring to RASopathy disorders: PTPN11, LZTR1, KMT2D and NFIB).Additionally, the overall diagnostic rate for isolated hydramnios and isolated hydrothorax was 50%, with a limited number of cases.However, the rate of incidental findings was 21%.Most of them refer to genes responsible for cancer or hematological and cardiac disorders (46%).Conclusions: WES improves genetic diagnosis and counselling of fetal structural anomalies in fetal medicine with a diagnostic rate of 19% with normal karyotype and negative CMA.The high rate of incidental findings required the providers to present developed counselling with parents before suggesting a trio WES.
DOI: 10.1002/uog.28756
Authors: S. Mundhe, V. Payal, N. Karthikeyan, P. Radhakrishnan
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4402360768