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对181名患有13种不同形式遗传性血小板减少症的女性的339次妊娠进行分析。

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.

作者信息

Noris Patrizia, Schlegel Nicole, Klersy Catherine, Heller Paula G, Civaschi Elisa, Pujol-Moix Nuria, Fabris Fabrizio, Favier Remi, Gresele Paolo, Latger-Cannard Véronique, Cuker Adam, Nurden Paquita, Greinacher Andreas, Cattaneo Marco, De Candia Erica, Pecci Alessandro, Hurtaud-Roux Marie-Françoise, Glembotsky Ana C, Muñiz-Diaz Eduardo, Randi Maria Luigia, Trillot Nathalie, Bury Loredana, Lecompte Thomas, Marconi Caterina, Savoia Anna, Balduini Carlo L, Bayart Sophie, Bauters Anne, Benabdallah-Guedira Schéhérazade, Boehlen Françoise, Borg Jeanne-Yvonne, Bottega Roberta, Bussel James, De Rocco Daniela, de Maistre Emmanuel, Faleschini Michela, Falcinelli Emanuela, Ferrari Silvia, Ferster Alina, Fierro Tiziana, Fleury Dominique, Fontana Pierre, James Chloé, Lanza Francois, Le Cam Duchez Véronique, Loffredo Giuseppe, Magini Pamela, Martin-Coignard Dominique, Menard Fanny, Mercier Sandra, Mezzasoma Annamaria, Minuz Pietro, Nichele Ilaria, Notarangelo Lucia D, Pippucci Tommaso, Podda Gian Marco, Pouymayou Catherine, Rigouzzo Agnes, Royer Bruno, Sie Pierre, Siguret Virginie, Trichet Catherine, Tucci Alessandra, Saposnik Béatrice, Veneri Dino

机构信息

Department of Internal Medicine, University of Pavia-IRCCS Policlinico San Matteo Foundation, Italy.

National Reference Centre on Inherited Platelet Disorders and Service d'Hématologie Biologique, CHU Robert Debré and Paris 7 Denis Diderot University, Paris, France.

出版信息

Haematologica. 2014 Aug;99(8):1387-94. doi: 10.3324/haematol.2014.105924. Epub 2014 Apr 24.

Abstract

Pregnancy in women with inherited thrombocytopenias is a major matter of concern as both the mothers and the newborns are potentially at risk of bleeding. However, medical management of this condition cannot be based on evidence because of the lack of consistent information in the literature. To advance knowledge on this matter, we performed a multicentric, retrospective study evaluating 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia. Neither the degree of thrombocytopenia nor the severity of bleeding tendency worsened during pregnancy and the course of pregnancy did not differ from that of healthy subjects in terms of miscarriages, fetal bleeding and pre-term births. The degree of thrombocytopenia in the babies was similar to that in the mother. Only 7 of 156 affected newborns had delivery-related bleeding, but 2 of them died of cerebral hemorrhage. The frequency of delivery-related maternal bleeding ranged from 6.8% to 14.2% depending on the definition of abnormal blood loss, suggesting that the risk of abnormal blood loss was increased with respect to the general population. However, no mother died or had to undergo hysterectomy to arrest bleeding. The search for parameters predicting delivery-related bleeding in the mother suggested that hemorrhages requiring blood transfusion were more frequent in women with history of severe bleedings before pregnancy and with platelet count at delivery below 50 × 10(9)/L.

摘要

患有遗传性血小板减少症的女性怀孕是一个备受关注的重大问题,因为母亲和新生儿都有潜在的出血风险。然而,由于文献中缺乏一致的信息,这种情况的医学管理无法基于证据。为了增进对这一问题的了解,我们进行了一项多中心回顾性研究,评估了181名患有13种不同形式遗传性血小板减少症的女性的339次妊娠。妊娠期间血小板减少的程度和出血倾向的严重程度均未加重,且妊娠过程在流产、胎儿出血和早产方面与健康受试者并无差异。婴儿的血小板减少程度与母亲相似。156名受影响的新生儿中只有7名有分娩相关出血,但其中2名死于脑出血。根据异常失血的定义,分娩相关母亲出血的发生率在6.8%至14.2%之间,这表明与普通人群相比,异常失血的风险增加。然而,没有母亲死亡或必须接受子宫切除术来止血。对预测母亲分娩相关出血参数的研究表明,有孕前严重出血史且分娩时血小板计数低于50×10⁹/L的女性需要输血的出血情况更为频繁。

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Inherited thrombocytopenias: the evolving spectrum.遗传性血小板减少症:不断变化的谱系。
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Genetics of familial forms of thrombocytopenia.血小板减少症家族形式的遗传学。
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