Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-848d4c4894-wg55d Total loading time: 0 Render date: 2024-05-01T01:20:38.452Z Has data issue: false hasContentIssue false

Chapter 6 - Screening for Fetal Aneuploidy in Multiple Pregnancy

Published online by Cambridge University Press:  11 October 2022

By
Maria del Mar Gil  and
Kypros Nicolaides
Edited by
Leanne Bricker ,
Julian N. Robinson  and
Baskaran Thilaganathan
Leanne Bricker
Affiliation:
Corniche Hospital, Abu Dhabi
Julian N. Robinson
Affiliation:
Brigham & Women's Hospital, Boston
Baskaran Thilaganathan
Affiliation:
St George's Hospital Medical School, University of London
Get access

Summary

Screening for aneuploidies should be offered in twin pregnancies, but it is complicated by several factors. While monozygotic twins are genetically identical and one risk estimation is provided for the whole pregnancy, dizygotic twins require a risk estimation for each fetus. 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 are effective methods of screening which show similar performance in twin pregnancies as compared to singleton pregnancies. The performance of the second trimester quadruple test is much poorer in twin than in singleton pregnancies and therefore its use should be limited to those cases where other methods are not available. For multiple pregnancies of order three or higher, a combination of maternal age and fetal nuchal translucency thickness provides the best performance.

Type
Chapter
Information
Management of Multiple Pregnancies
A Practical Guide
 , pp. 54 - 63
Publisher: Cambridge University Press
Print publication year: 2022

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Santorum, M, Wright, D, Syngelaki, A, Karagioti, N, Nicolaides, KH. Accuracy of first-trimester combined test in screening for trisomies 21, 18 and 13. Ultrasound Obstet Gynecol 2017;49:714–20.CrossRefGoogle ScholarPubMed
Gil, MM, Accurti, V, Santacruz, B, Plana, MN, Nicolaides, KH. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2017;50:302–14.Google Scholar
Sebire, NJ, Snijders, RJ, Hughes, K, Sepulveda, W, Nicolaides, KH. Screening for trisomy 21 in twin pregnancies by maternal age and fetal nuchal translucency thickness at 10–14 weeks of gestation. Br J Obstet Gynaecol 1996;103:999–1003.CrossRefGoogle ScholarPubMed
Spencer, K. Screening for trisomy 21 in twin pregnancies in the first trimester using free beta-hCG and PAPP-A combined with fetal nuchal translucency thickness. Prenat Diagn 2000;20:91–5.Google ScholarPubMed
Spencer, K, Kagan, KO, Nicolaides, KH. Screening for trisomy 21 in twin pregnancies in the first trimester: an update of the impact of chorionicity on maternal serum markers. Prenat Diagn 2008;28:49–52.CrossRefGoogle ScholarPubMed
Madsen, HN, Ball, S, Wright, D et al. A reassessment of biochemical marker distributions in trisomy 21-affected and unaffected twin pregnancies in the first trimester. Ultrasound Obstet Gynecol 2011;37:38–47.CrossRefGoogle ScholarPubMed
Gil, MM, Galeva, S, Jani, J et al. Screening for trisomies by cfDNA testing of maternal blood in twin pregnancy: update of the Fetal Medicine Foundation results and meta-analysis. Ultrasound Obstet Gynecol 2019;53:734–42.CrossRefGoogle ScholarPubMed
Nicolaides, KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 2011;31:7–15.CrossRefGoogle ScholarPubMed
Wright, D, Syngelaki, A, Staboulidou, I, Cruz, J, Nicolaides, KH. Screening for trisomies in dichorionic twins by measurement of fetal nuchal translucency thickness according to the mixture model. Prenat Diagn 2011;31:16–21.Google Scholar
Audibert, F, Gagnon, A, Genetics Committee of the Society of Obstetricians and Gynaecologists of Canada, Prenatal Diagnosis Committee of the Canadian College of Medical Geneticists. Prenatal screening for and diagnosis of aneuploidy in twin pregnancies. J Obstet Gynaecol Can 2011;33:754–67.CrossRefGoogle ScholarPubMed
Prats, P, Rodríguez, I, Comas, C, Puerto, B. Systematic review of screening for trisomy 21 in twin pregnancies in first trimester combining nuchal translucency and biochemical markers: a meta-analysis. Prenat Diagn 2014;34:1077–83.CrossRefGoogle ScholarPubMed
Cuckle, H. Down’s syndrome screening in twins. J Med Screen. 1998;5:3–4.CrossRefGoogle ScholarPubMed
Galeva, S, Gil, MM, Konstantinidou, L, Akolekar, R, Nicolaides, KH. First-trimester screening for trisomies by cfDNA testing of maternal blood in singleton and twin pregnancies: factors affecting test failure. Ultrasound Obstet Gynecol 2019;53:804–9.CrossRefGoogle ScholarPubMed
Khalil, A, Rodgers, M, Baschat, A et al. ISUOG Practice Guidelines: role of ultrasound in twin pregnancy. Ultrasound Obstet Gynecol. 2016 Feb;47(2):247–63. doi: 10.1002/uog.15821. Erratum in Ultrasound Obstet Gynecol. 2018 Jul;52(1):140.PMID: 26577371.CrossRefGoogle ScholarPubMed
Chaveeva, P, Wright, A, Syngelaki, A, Konstantinidou, L, Wright, D, Nicolaides, KH. First-trimester screening for trisomies in pregnancies with vanishing twin.Ultrasound Obstet Gynecol. 2020 Mar;55(3):326–31. doi: 10.1002/uog.21922. Epub 2020 Feb 13. PMID: 31710734.CrossRefGoogle ScholarPubMed

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×