Giannubilo Stefano R, Fiorelli Alessia, Marzioni Daniela, Tossetta Giovanni, Capogrosso Giulia, Ciavattini Andrea
Department of Clinical Sciences, Polytechnic University of Marche, Salesi Hospital, Via Corridoni 11, 60123 Ancona, Italy.
Department of Experimental and Clinical Medicine, Polytechnic University of Marche, Via Tronto, 10/a, 60126 Ancona, Italy.
J Clin Med. 2022 Nov 29;11(23):7054. doi: 10.3390/jcm11237054.
To study the frequency of inherited thrombophilia in monochorionic twin pregnancies with twin-twin transfusion syndrome (TTTS).
At the Department of Obstetrics of the Polytechnic University of Marche (Ancona, Italy) a population of monochorionic diamniotic pregnant women was selected retrospectively. After termination of the pregnancy, genotyping for Factor I, Factor V Leiden, Factor II and Methylenetetrahydrofolate Reductase (MTHFR), as well as activities of the plasma proteins C and S, was performed.
Regarding the 32 patients with TTTS, from a cohort of 104 monochorionic pregnancies recruited, at least one thrombophilic defect was more frequent (OR: 3.24), and the allele polymorphism frequency was higher for Factor I (OR: 4.4) and for Factor V Leiden (OR: 11.66).
Maternal inherited thrombophilia, possibly also inherited from monochorial fetuses, may result in impaired development of the placental vascular architecture. This inheritance hypothesis may explain why only a fraction of monochorionic diamniotic twins develop TTTS.
研究双胎输血综合征（TTTS）的单绒毛膜双胎妊娠中遗传性易栓症的发生率。
在马尔凯理工大学（意大利安科纳）妇产科，回顾性选取了一群单绒毛膜双羊膜囊孕妇。妊娠终止后，进行了凝血因子I、凝血因子V莱顿突变、凝血因子II和亚甲基四氢叶酸还原酶（MTHFR）的基因分型，以及血浆蛋白C和S的活性检测。
在招募的104例单绒毛膜妊娠队列中，32例TTTS患者中至少有一种易栓缺陷更为常见（比值比：3.24），凝血因子I（比值比：4.4）和凝血因子V莱顿突变（比值比：11.66）的等位基因多态性频率更高。
母亲的遗传性易栓症，可能也遗传自单绒毛膜胎儿，可能导致胎盘血管结构发育受损。这种遗传假说可以解释为什么只有一小部分单绒毛膜双羊膜囊双胎会发生TTTS。
