Discordant phenotypic outcomes in monozygotic twins conceived via IVF: A case report involving Hirschsprung's disease, tricuspid and pulmonary atresia, and orofacial clefts without detectable genetic mutation
Year: 2025
Type: article
Study design: Case Report
Abstract: This report concerns the incidental finding of discordant congenital anomalies in twins diagnosed as monozygotic in a private, academically-affiliated fertility center in the United States. A 40-year-old woman conceived monozygotic dichorionic twins via in vitro fertilization (IVF). One twin presented with multiple congenital anomalies, including tricuspid and pulmonary atresia, cleft lip/palate, Hirschsprung's disease, facial skin tags, and a benign ocular tumor, while the other twin presented none of those abnormalities and appeared entirely healthy. Genetic testing, including amniocentesis and whole-exome sequencing, confirmed no identifiable mutations. This case emphasizes the potential role of postzygotic mosaicism, epigenetic dysregulation, and/or environmental disruption of neural crest-derived development, highlighting the complexity of embryologic development. • One twin in a monozygotic pair conceived via in vitro fertilization had multiple malformations while the co-twin was unaffected. • No genetic mutations were detected despite confirmed monozygosity. • The anomalies in the affected twin were clustered in neural crest–derived tissues. • Assisted reproductive technologies may contribute in such cases via epigenetic, mosaic, or environmental factors.
Source: Case Reports in Women s Health
Authors: Sonia Gayete-Lafuente, Umar Mian, Elizabeth Choong, David H. Barad, Norbert Gleicher
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $1,080
OpenAlex ID: W4414442863