异核型妊娠：单体型 13 三体性的同卵双绒毛膜双胎妊娠。
Heterokaryotypic pregnancy: monozygotic monochorionic twins discordant for trisomy 13.
机构信息
Maternal-Fetal Medicine Unit, Department of Obstetrics and Gynecology, San Jose Hospital, University of Santiago de Chile, Casilla, Santiago, Chile.
出版信息
Fetal Diagn Ther. 2010;28(2):109-13. doi: 10.1159/000309175. Epub 2010 May 21.
BACKGROUND
The occurrence of a discordant chromosomal abnormality in monozygotic twins is an extremely rare condition.
CASE
We report the prenatal sonographic findings and cytogenetic studies in a monochorionic twin pregnancy discordant for severe fetal anomalies. Amniocenteses demonstrated heterokaryotypia for trisomy 13 in monozygotic twins. The pregnancy was managed conservatively, resulting in the delivery of discordant twins at 32 weeks. The structurally normal twin survived without sequelae, but the abnormal twin died shortly after delivery.
CONCLUSIONS
This report adds to the literature the second known case of a spontaneously conceived monochorionic twin pregnancy discordant for trisomy 13 and highlights the necessity of sampling both fetuses in cases of monochorionic twins presenting with discordant structural anomalies.
背景
同卵双胞胎中出现染色体异常不一致是一种极其罕见的情况。
病例
我们报告了一例同卵双胞胎妊娠中出现严重胎儿畸形不一致的产前超声发现和细胞遗传学研究。羊膜穿刺术显示同卵双胞胎的三体 13 异核型。妊娠采用保守治疗，导致 32 周时分娩出不一致的双胞胎。结构正常的双胞胎存活，没有后遗症，但异常的双胞胎在分娩后不久死亡。
结论
本报告增加了文献中第二例自发发生的、同卵双胞胎妊娠中出现三体 13 不一致的病例，并强调了在同卵双胞胎出现不一致的结构异常时，有必要对两个胎儿进行取样。
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