双胞胎单,双胞胎,性别不一致的双胞胎与双胞胎贫血多细胞血症序列
Julie T Alan1, Lauren N Meiss2, Jena L Miller1
1The Johns Hopkins Center for Fetal Therapy, Department of Gynecology and Obstetrics, The Johns Hopkins Hospital, Baltimore, Maryland, USA.
American journal of medical genetics. Part A
|October 11, 2025
概括
这项研究报告了一例罕见的三胞胎三胞胎与不和的胎儿性别在一个单双胞胎对,诊断出双胞胎贫血多细胞血顺序 (TAPS). 这些发现突出了异常的胎盘发育和多胎妊娠中的遗传变异.
科学领域:
- 生殖医学 生殖医学
- 遗传学 是一个遗传学.
- 周围生理学 周围生理学
背景情况:
- 单胞胎双胞胎由于其单胞胎起源,通常具有相同的胎儿性别.
- 双胞胎贫血多细胞瘤序列 (TAPS) 是单胎盘的一个并发症,其特点是不平等的血液共享.
研究的目的:
- 为了呈现一种罕见的单胆子双胞胎,三胞胎怀孕中的双胞胎双胞胎,表现出不一致的胎儿性别.
- 为了调查这种独特的多胎妊娠中不和的性别和TAPS的潜在原因.
主要方法:
- 对胎儿性别和TAPS指标的超声波监测 (MCA-PSV).
- 胎儿血液采样和子宫内输血.
- 新生儿的胎盘组织学和遗传分析 (FISH,染色体微阵列).
主要成果:
- 在单双双中发现了不一致的胎儿性别 (表型为女性胎儿1,男性胎儿2).
- 双胞胎被诊断出患有第二阶段TAPS,进展到第三阶段TAPS.
- 遗传分析证实了三胞胎三胞胎怀孕与功能单胎盘和双胞胎之间的血管解剖.
结论:
- 这个案例展示了一个罕见的三胞胎三胞胎的例子,具有单胎盘和不一致的胎儿性别,由TAPS复杂化.
- 这些发现表明,不同的胚胎的密切植入或融合可能会导致血管瘤和类似的现象.
- 这个案例扩大了对胎盘发育和复杂多胎妊娠中的遗传变异的理解.
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