Copyright © 2026 Authors retain the copyright of this article. This article is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

@article{203844,
        author = {Manju Kurup and Gauri Dhumal},
        title = {Prenatal Detection of Heterotaxy Syndrome with Multisystem Fetal Anomalies in a Couple with Recurrent Pregnancy Loss: A Case Report},
        journal = {International Journal of Innovative Research in Technology},
        year = {2026},
        volume = {13},
        number = {1},
        pages = {1458-1461},
        issn = {2349-6002},
        url = {https://ijirt.org/article?manuscript=203844},
        abstract = {Background Heterotaxy syndrome is a rare disorder characterized by abnormal arrangement of thoracoabdominal organs along the left-right axis and is commonly associated with complex congenital cardiac anomalies and multisystem malformations. Recurrent pregnancy loss associated with fetal structural anomalies warrants detailed genetic evaluation.
Case Presentation
We report a case of prenatal detection of heterotaxy syndrome with multisystem fetal anomalies in a non-consanguineous couple with recurrent pregnancy loss. The fourth pregnancy, achieved through in vitro fertilization (IVF) with preimplantation genetic testing for aneuploidy (PGT-A), demonstrated multiple fetal anomalies on prenatal ultrasonography and fetal echocardiography including right-sided stomach, absent pulmonary artery, and abnormal cardiac anatomy. Fetal autopsy revealed facial dysmorphism, left-sided pre-axial polydactyly, heterotaxy syndrome, and complex congenital cardiac anomalies.
Investigations
Chromosomal microarray analysis (CMA) performed on a previous products of conception detected Turner syndrome. Couple karyotyping was normal. Sperm DNA fragmentation assay demonstrated 50% DNA fragmentation in the husband. Whole exome sequencing (WES) of products of conception identified variants of uncertain significance in DNAH9 and TRIO genes. Expanded carrier screening did not identify any clinically significant shared pathogenic variants.
Conclusion
This case highlights the importance of detailed prenatal imaging, fetal autopsy, and advanced genetic investigations in recurrent pregnancy loss associated with fetal structural anomalies.},
        keywords = {Congenital heart defects, Heterotaxy syndrome, Prenatal diagnosis, Recurrent pregnancy loss, Whole exome sequencing},
        month = {June},
        }