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Screening of Aneuploidies in Twin Pregnancies

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Prenatal Diagnostic Testing for Genetic Disorders

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Abstract

Screening for aneuploidies instead of direct invasive diagnosis is recommended in twin pregnancies; however, it is complicated by several factors. While monozygotic twins are genetically identical and only one risk estimation is provided for the whole pregnancy, dizygotic twins, whose genetics are different, require a different risk estimation for each fetus. The challenge in prenatal diagnosis is that zygosity is rarely known, so chorionicity, as a proxy, must be used instead. Several methods have been used to screen for aneuploidies in twin pregnancies. Screening by maternal age alone is currently not recommended because of its poor performance; however, screening by fetal nuchal translucency thickness, the first trimester combined test, or cell-free DNA testing in maternal blood are effective methods of screening which show similar performance in twin pregnancies as compared to singleton pregnancies. However, specific considerations must be taken when using these methods in screening for aneuploidies in twin pregnancies. The performance of the second-trimester quadruple test is much poorer in twin than in singleton pregnancies. Therefore, its use should be limited to those cases where other methods are unavailable.

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Authors and Affiliations

  1. Obstetrics and Gynecology Department, Hospital Universitario de Torrejón, Madrid, Spain

    María Mar Gil

  2. School of Medicine, Universidad Francisco de Vitoria (UFV), Madrid, Spain

    María Mar Gil

  3. Fetal Medicine Research Institute, King’s College Hospital, London, UK

    María Mar Gil, Petya Chaveeva & Kypros Herodotos Nicolaides

  4. Fetal Medicine Unit, Dr. Shterev Hospital, Sofia, Bulgaria

    Petya Chaveeva

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  1. María Mar Gil
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  2. Petya Chaveeva
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  3. Kypros Herodotos Nicolaides
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Correspondence to María Mar Gil .

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Editors and Affiliations

  1. Centre for Perinatal & Reproductive Medicine, University of Perugia, Perugia, Umbria, Italy

    Gian Carlo Di Renzo

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Gil, M.M., Chaveeva, P., Nicolaides, K.H. (2023). Screening of Aneuploidies in Twin Pregnancies. In: Di Renzo, G.C. (eds) Prenatal Diagnostic Testing for Genetic Disorders. Springer, Cham. https://doi.org/10.1007/978-3-031-31758-3_8

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  • DOI: https://doi.org/10.1007/978-3-031-31758-3_8

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  • Publisher Name: Springer, Cham

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  • Online ISBN: 978-3-031-31758-3

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