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Prenatal Screening for and Diagnosis of Aneuploidy in Twin Pregnancies

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Twin and Higher-order Pregnancies

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Abstract

Prenatal screening poses specific challenges in multiple pregnancies but is in high demand due to the increased prevalence of multiple pregnancies. Both ultrasound and biochemical screening methods are available, although they are less accurate than in singleton pregnancies. The introduction of non-invasive prenatal testing has been a big step forward with higher sensitivities and lower false-positive rates. In this chapter, we present an overview of the methods and implications of screening for aneuploidy in multiple pregnancies, which will aid in the counseling of prospective parents.

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Key Reading

  • Bender W, Dugoff L. Screening for aneuploidy in multiple gestations: the challenges and options. Obstet Gynecol Clin North Am. 2018;45(1):41–53. https://doi.org/10.1016/j.ogc.2017.10.004.

    Article  PubMed  Google Scholar 

  • Galeva S, Konstantinidou L, Gil MM, Akolekar R, Nicolaides KH. Routine first-trimester screening for fetal trisomies in twin pregnancy: cell-free DNA test contingent on results from combined test. Ultrasound Obstet Gynecol. 2019;53(2):208–13. https://doi.org/10.1002/uog.20160. Epub 2018 Dec 7

    Article  CAS  PubMed  Google Scholar 

  • Gray KJ, Wilkins-Haug LE. Have we done our last amniocentesis? Updates on cell-free DNA for Down syndrome screening. Pediatr Radiol. 2018;48(4):461–70. https://doi.org/10.1007/s00247-017-3958-y.

    Article  PubMed  PubMed Central  Google Scholar 

  • Matias A, Montenegro N, Loureiro T, Cunha M, Duarte S, Freitas D, Severo M. Screening for twin-twin transfusion syndrome at 11-14 weeks of pregnancy: the key role of ductus venosus blood flow assessment. Ultrasound Obstet Gynecol. 2010;35(2):142–8.

    CAS  PubMed  Google Scholar 

  • Norwitz ER, McNeill G, Kalyan A, Rivers E, Ahmed E, Meng L, Vu P, Egbert M, Shapira M, Kobara K, Parmar S, Goel S, Prins SA, Aruh I, Persico N, Robins JC, Kirshon B, Demko ZP, Ryan A, Billings PR, Rabinowitz M, Benn P, Martin KA, Hedriana HL. Validation of a single-nucleotide polymorphism-based non-invasive prenatal test in twin gestations: determination of zygosity, individual fetal sex, and fetal aneuploidy. J Clin Med. 2019;8(7):937.

    CAS  PubMed Central  Google Scholar 

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Faculty of Medicine, University Hospital of S. João, Porto, Portugal

    Alexandra Matias & Beatriz Teixeira

  2. University Hospital of S. João, Porto, Portugal

    Miguel Macedo

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  1. Alexandra Matias
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  2. Beatriz Teixeira
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  3. Miguel Macedo
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Editors and Affiliations

  1. Fetal Medicine Unit, St George’s University Hospitals, NHS Foundation Trust, London, UK

    Asma Khalil

  2. Department of Obstetrics & Gynaecology, University Hospitals Leuven, Leuven, Belgium

    Liesbeth Lewi

  3. Division of Neonatology, Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands

    Enrico Lopriore

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Matias, A., Teixeira, B., Macedo, M. (2021). Prenatal Screening for and Diagnosis of Aneuploidy in Twin Pregnancies. In: Khalil, A., Lewi, L., Lopriore, E. (eds) Twin and Higher-order Pregnancies. Springer, Cham. https://doi.org/10.1007/978-3-030-47652-6_8

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  • DOI: https://doi.org/10.1007/978-3-030-47652-6_8

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