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

IF 0.6 Q4 OBSTETRICS & GYNECOLOGY

Case Reports in Women's Health Pub Date : 2025-09-20 DOI:10.1016/j.crwh.2025.e00752

Sonia Gayete-Lafuente , Umar Mian , Elizabeth Choong , David H. Barad , Norbert Gleicher

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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.

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通过体外受精怀孕的同卵双胞胎的不一致表型结果：一例报告涉及先天性巨尖症候群病，三尖瓣和肺闭锁，以及没有可检测到的基因突变的口面部裂

本报告涉及在美国一家私立学术附属生育中心偶然发现的诊断为同卵双胞胎的不一致先天性异常。一名40岁的妇女通过体外受精（IVF）怀孕了单卵双绒毛膜双胞胎。其中一个双胞胎表现出多种先天性异常，包括三尖瓣和肺闭锁、唇腭裂、先天性巨结肠病、面部皮赘和良性眼部肿瘤，而另一个双胞胎没有出现这些异常，看起来完全健康。基因检测，包括羊膜穿刺术和全外显子组测序，证实没有可识别的突变。该病例强调了受精卵后嵌合、表观遗传失调和/或环境破坏对神经嵴源性发育的潜在作用，突出了胚胎发育的复杂性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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