单卵双胎妊娠不一致异常的病因学研究进展

doi:10.12280/gjfckx.20240722

摘要/Abstract

摘要：

单卵双胎源自单一受精卵的早期分裂，理论上应具有遗传同质性和宫内环境的一致性，从而具有高度的表型相似性。然而，临床实践中观察到的单卵双胎妊娠不一致现象，如一胎正常发育而另一胎出现发育异常，提示了潜在的复杂机制。结合国内外文献，综述导致这种差异的原因，遗传学因素包括嵌合体、新发突变及染色体拷贝数变异，表观修饰因素涵盖DNA差异性甲基化及X染色体失活偏移等，宫内环境因素涉及肠道菌群及羊水环境等。针对不同疾病表型，临床可采取选择性减胎术、终止妊娠或期待管理等干预措施。通过复习文献增进了对单卵双胎发育不一致现象的理解，为胎儿疾病的早期预防、诊断和治疗提供了科学依据，具有临床指导意义。

关键词: 双胎疾病, 双胎, 单卵, 胎儿发育, 表型, 基因, 表观基因组学, 宫内环境, 早期医疗干预

Abstract:

Monozygotic twins originate from the early division of a single fertilized egg, theoretically possessing genetic homogeneity and consistency in the intrauterine environment, resulting in a high degree of phenotypic similarity. However, the observed inconsistencies in monozygotic twins pregnancy in clinical practice, such as one fetus developing normally while the other exhibits developmental abnormalities, suggest potentially complex mechanisms. By reviewing domestic and international literature, this paper summarizes the causes of these differences, including genetic factors such as mosaicism, de novo mutations, and chromosomal copy number variations, epigenetic factors covering differential DNA methylation and skewed X-chromosome inactivation, and intrauterine environmental factors involving gut microbiota and amniotic fluid environment, among others. For different disease phenotypes, clinical interventions such as elective fetal reduction, termination of pregnancy, or expectant management can be adopted. Reviewing the literature has enhanced the understanding of the developmental inconsistencies in monozygotic twins, which provides a scientific basis for the early prevention, diagnosis, and treatment of fetal diseases, and holds clinical guidance significance.

Key words: Diseases in twins, Twins, monozygotic, Fetal development, Phenotype, Genes, Epigenomics, Intrauterine environment, Early medical intervention

邱婉宁, 魏瑗. 单卵双胎妊娠不一致异常的病因学研究进展[J]. 国际妇产科学杂志, 2024, 51(6): 607-610.

QIU Wan-ning, WEI Yuan. Advances in the Etiological Research of Discordant Anomalies in Monozygotic Twins Pregnancy[J]. Journal of International Obstetrics and Gynecology, 2024, 51(6): 607-610.

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