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Recurrent pregnancy loss and inherited thrombophilia: who should be tested?
  1. S Bianca1,
  2. B Barrano1,
  3. N Cutuli2,
  4. L Indaco1,
  5. C Ingegnosi1,
  6. A Cataliotti1,
  7. G Milana2,
  8. G Ettore3
  1. 1Centro di Consulenza Genetica e di Teratologia della Riproduzione, Laboratorio di Citogenetica, Dipartimento Materno Infantile, ARNAS Garibaldi Nesima, Catania, Italy
  2. 2Laboratorio di Genetica Molecolare, AOU Policlinico, Catania, Italy
  3. 3UOC Ginecologia e Ostetricia, Dipartimento Materno Infantile, ARNAS Garibaldi Nesima, Catania, Italy
  1. Dr S Bianca, Centro di Consulenza Genetica e di Teratologia della Riproduzione, Dipartimento Materno Infantile, ARNAS Garibaldi Nesima, Via Palermo, 636, 95123 Catania, Italy; sebastiano.bianca{at}tiscali.it

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Successful outcome of pregnancy is dependent on the development of adequate placental circulation. Abnormalities of placental vasculature may result in a number of gestational pathologies, including first- and second-trimester miscarriages, intrauterine growth restriction (IUGR), intrauterine fetal death, placental abruption and pre-eclampsia.

Inherited thrombophilia is believed to be a multiple gene disease with more than one defect, which explains why some women with thrombophilia never have a thrombotic event, while others have complications.

Testing may be performed in individuals with a personal or family history of venous thromboembolism and in women with a history of pregnancy loss and other pregnancy complications. However, there is much uncertainty when it comes to the role of genetic testing for thrombophilia, in part because management decisions may be based more on clinical history than the underlying genetic defect. The field is also progressing rapidly, and advantages and disadvantages of testing are evolving over time as more information is gleaned from clinical studies, and new therapeutic options become available.1 In fact, information …

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