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Title: [Analysis of clinical characteristics of discordant structural malformations in one of monochorionic diamnionic twins].
Author: Wang J, Luo JY, Yang J, Yuan PB, Wang XJ, Meng XL, Zhao YY, Wei Y.
Journal: Zhonghua Fu Chan Ke Za Zhi; 2019 Feb 25; 54(2):87-92. PubMed ID: 30803166.
Abstract:
Objective: To analyze the clinical characteristics of structural malformations in one of monochorionic diamnionic twins (MCDA). Methods: The clinical data of 77 MCDA patients with structural malformations diagnosed by ultrasound were retrospectively reviewed from January 2012 to May 2017. The distribution of structural malformations, prenatal chromosomal karyotyping and pregnancy outcomes were analyzed. Results: (1)Among the 77 MCDA patients with structural malformations, the single malformation accounted for 79%(61/77), the multiple malformations accounted for 21%(16/77). And there were a total of 94 types of malformations, the top three malformations were neurological malformations (32%, 30/94), cardiovascular malformations (29%, 27/94) and twin reversed arterial perfusion sequence (TRAPS;10%,9/94).(2)Among the 77 patients with structural malformation, 64 cases (83%, 64/77) were examined for fetal chromosomes, of whom 14 cases (22%,14/64) were examined for fetal chromosomes of both twins, with 1 case (1/14) of discordant fetal chromosome. (3)Among the 77 patients, 4 cases (5%, 4/77) with severe fetal malformations terminated pregnancy. Totally 29 cases (38%,29/77) with severe malformations were treated with selective fetal reduction, among whom 7 cases (24%, 7/29) experienced unexplained fetal death within 24 hours after the operation; 2 cases (7%, 2/29) happened inevitable abortion, and 2 cases (7%, 2/29) underwent unexplained fetal death during the late pregnancy. Of the remaining 44 patients (57%,44/77) with expectant treatment, 13 cases (30%,13/44) occurred twin transfusion syndrome (Ⅱ-Ⅳ), and were treated with fetoscopic laser occlusion. Eight patients had 2 survival twins, 4 patients delivered 1 survival twin, and 1 patient had dead twins. Conclusions: The most common malformations in MCDA twins are the nervous malformations, cardiovascular malformations and TRAPS. The chromosome karyotype of MCDA twins with structural malformations are sometimes discordant, and separate samling of the twins is suggested for prenatal diagnosis. Selective fetal reduction could be given to severe structural malformation in MCDA patients safely and effectively. For non-severe structural malformation in MCDA patients with twin transfusion syndrome, fetoscopic laser occlusion is safe and effective. 目的： 分析单绒毛膜双羊膜囊（MCDA）双胎之一结构畸形的临床特点。 方法： 收集2012年1月至2017年3月于北京大学第三医院经超声检查确诊的MCDA双胎之一结构畸形的77例孕妇的临床资料，分析其胎儿结构畸形的类型、产前诊断及妊娠结局等临床特点。 结果： （1）胎儿结构畸形的类型：77例MCDA双胎之一结构畸形胎儿中，单发畸形胎儿占79%（61/77）、多发畸形胎儿占21%（16/77）。产前超声检查发现共计94项胎儿结构畸形，发生率较高的前3位结构畸形分别为神经系统畸形（32%，30/94）、心血管系统畸形（29%，27/94）、双胎反向动脉灌注（10%，9/94）。（2）染色体核型分析：77例孕妇中，14例孕妇进行了两个胎儿的染色体核型分析，发现1例（1/14）双胎的染色体核型不一致。（3）妊娠结局：①4例（5%，4/77）MCDA双胎之一严重结构畸形的孕妇引产终止妊娠。②29例（38%，29/77）MCDA双胎之一严重结构畸形孕妇行选择性减胎术，其中7例（24%，7/29）孕妇的保留胎儿在术后24 h内发生原因不明的胎死宫内；2例（7%，2/29）发生难免流产；另有2例（7%，2/29）在妊娠晚期发生原因不明的胎死宫内；余18例孕妇（62%，18/29）的保留胎儿存活。③44例（57%，44/77）孕妇行期待治疗，其中13例（30%，13/44）孕妇继发双胎输血综合征Ⅱ~Ⅳ期，行胎儿镜下胎盘激光凝固治疗，治疗后8例双胎均存活，4例存活一胎，1例双胎均死亡。 结论： MCDA双胎之一结构畸形中最常见的畸形为神经系统畸形、心血管畸形及双胎反向动脉灌注。MCDA双胎之一结构畸形存在两胎儿染色体核型不一致的可能，建议对双胎分别取样行产前诊断。MCDA双胎之一严重结构畸形者，可采取选择性减胎术；而非严重结构畸形者的期待治疗过程中，继发双胎输血综合征时行胎儿镜下胎盘激光凝固治疗较为安全、有效。.

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