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Chapter 12 - Prenatal Diagnostic Techniques

from Section 3 - Fetal Medicine

Published online by Cambridge University Press:  20 November 2021

By
Guttorm Haugen  and
Vasilis Sitras
Edited by
Tahir Mahmood ,
Charles Savona Ventura ,
Ioannis Messinis  and
Sambit Mukhopadhyay
Tahir Mahmood
Affiliation:
Victoria Hospital, Kirkcaldy
Charles Savona Ventura
Affiliation:
University of Malta, Malta
Ioannis Messinis
Affiliation:
University of Thessaly, Greece
Sambit Mukhopadhyay
Affiliation:
Norfolk & Norwich University Hospital, UK
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Summary

Prenatal diagnosis provides the pregnant woman and her partner with information on possible fetal chromosomal aberrations and heritable genetic diseases. Genetic counselling should be provided to the couple with information on the technical procedure, predictive values, risk estimates, expected and unexpected results and management options. Prenatal diagnosis is typically performed early in pregnancy to give the couple the possibility to consider termination of pregnancy. The policy on prenatal diagnosis varies throughout Europe depending on tradition and national legislation, resulting in inconsistent use of the different screening and invasive methods.

Type
Chapter
Information
The EBCOG Postgraduate Textbook of Obstetrics & Gynaecology
Obstetrics & Maternal-Fetal Medicine
 , pp. 102 - 108
Publisher: Cambridge University Press
Print publication year: 2021

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References

Nicolaides, KH, Azar, G, Byrne, D, Mansur, C, Marks, K. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. BMJ. 1992;304:867–9.Google Scholar
Makrydimas, G, Sotiriadis, A, Ioannidis, JPA. Screening performance of first trimester nuchal translucency for major cardiac defects: a meta-analysis. Am J Obstet Gynecol. 2003;189:1330–5.Google Scholar
Alldred, SK, Takwoingi, Y, Guo, B, et al. First trimester serum tests for Down´s syndrome screening. Cochrane Database Syst Rev 2015, Issue 11. Art. No.: CD011975. DOI: 10.1002/14651858.CD011975.Google Scholar
Alldred, SK, Takwoingi, Y, Guo, B, et al. First trimester ultrasound tests alone or in combination with first trimester serum tests for Down’s syndrome screening. Cochrane Database Syst Rev., 2017, Issue 3. Art. No.: CD012600. DOI: 10.1002/14651858.CD012600.Google Scholar
Lo, YMD, Corbetta, N, Chamberlain, PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350:485–7.CrossRefGoogle ScholarPubMed
Dar, P, Shani, H, Evans, MI. Cell-free, DNA. Comparison of technologies. Clin Lab Med. 2016;36:199–211.CrossRefGoogle ScholarPubMed
Bianchi, DW, Chiu, RWK. Sequencing of circulating cell-free DNA during pregnancy. N Eng J Med. 2018;379:464–73.Google Scholar
Rink, BD, Norton, ME. Screening for fetal aneuploidy. Semin Perinatol. 2016;40:35–43.CrossRefGoogle ScholarPubMed
Norton, ME, Jacobsson, B, Swamy, GK, et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med. 2015;372:1589–97.CrossRefGoogle ScholarPubMed
Gil, MM, Quezada, MS, Revello, R, Akolekar, R, Nicolaides, KH. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2015;45:249–66.Google Scholar
Badeau, M, Lindsay, C, Blais, J, et al. Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women. Cochrane Database Syst Rev. 2017, Issue 11. Art. No.: CD011767. DOI: 10.1002/14651858.CD11767.pub2Google Scholar
Hui, L, Hutchinson, B, Poulton, A, Halliday, J. Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy. Genet Med. 2017;19:1338–45.Google Scholar
Vogel, I, Petersen, OB, Christensen, R, et al. Chromosomal microarray as primary diagnostic genomic tool for pregnancies at increased risk within a population-based combined first-trimester screening program. Ultrasound Obstet Gynecol. 2018;51:480–6.Google Scholar
Boyle, B, Morris, JK, McConkey, R, et al. Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening. BJOG. 2014;121:809–20.CrossRefGoogle ScholarPubMed
Bender, W, Dugoff, L. Screening for aneuploidy in multiple gestations. The challenges and options. Obstet Gynecol Clin North Am. 2018;45:41–53.CrossRefGoogle ScholarPubMed
Ghi, T, Sotiriadis, A, Calda, P et al. on behalf of the International Society of Ultrasound in Obstetrics and Gynecology. ISUOG Practice Guidelines: invasive procedures for prenatal diagnosis in obstetrics. Ultrasound Obstet Gynecol. 2016;48:256–68.Google Scholar
Tabor, A, Philip, J, Madsen, M, et al. Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet. 1986;1:1287–93.Google Scholar
Athanasiadis, AP, Pantazis, K, Goulis, DG, et al. Comparison between 20 G and 22 G needle for second trimester amniocentesis in terms of technical aspects and short-term complications. Prenat Diagn. 2009;29:761–5.CrossRefGoogle Scholar
Alfirevic, Z, Navaratnam, K, Mujezinovic, F. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev. 2017, Issue 9. Art. No.: CD003252. DOI: 10.1002/14651858.CD003252.pub2.Google ScholarPubMed
Akolekar, R, Beta, J, Picciarelli, G, Ogilvie, C, D’Antonio, F. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2015;45:16–26.CrossRefGoogle ScholarPubMed
Malan, V, Bussières, L, Winer, N, et al. Effect of cell-free DNA screening vs direct invasive diagnosis on miscarriage rates in women with pregnancies at high risk of trisomy 21. A randomized clinical trial. JAMA. 2018;320:557–65.Google Scholar
Firth, HV, Boyd, PA, Chamberlain, P, et al. Severe limb abnormalities after chorion villus sampling at 56–66 days’ gestation. Lancet. 1991;337:762–3.Google Scholar
Schaap, AHP, van der Pol, HG, Boer, K, Leschot, NJ, Wolf, H. Long-term follow-up of infants after transcervical chorionic villus sampling and after amniocentesis to compare congenital abnormalities and health status. Pranat Diagn. 2002;22:598–604.CrossRefGoogle ScholarPubMed
Vink, J, Fuchs, K, D’Alton, ME. Amniocentesis in twin pregnancies: a systematic review of the literature. Prenat Diagn. 2012;32: 409–16.CrossRefGoogle ScholarPubMed
Agarwal, K, Alfirevic, Z. Pregnancy loss after chorionic villus sampling and genetic amniocentesis in twin pregnancies: a systematic review. Ultrasound Obstet Gynecol. 2012;40:128–34.Google Scholar
Warsof, SL, Larion, S, Abuhamad, AZ. Overview of the impact of noninvasive prenatal testing on diagnostic procedures. Prenat Diagn. 2015;35:972–9.CrossRefGoogle ScholarPubMed
Tabor, A, Vestergaard, CHF, Lidegaard, Ø. Fetal loss rate after chorionic villus sampling and amniocentesis: an 11-year national registry study. Ultrasound Obstet Gynecol. 2009;34:19–24.CrossRefGoogle ScholarPubMed
Royal College of Obstetricians and Gynaecologists (RCOG). Amniocentesis and Chorionic Villus Sampling. Green-top Guideline No 8. London, UK; 2010. www.rcog.org.uk/en/guidelines-research-services/guidelines/gtg8/Google Scholar
Nizard, J, Duyme, M, Ville, Y. Teaching ultrasound-guided invasive procedures in fetal medicine: learning curves with and without an electronic guidance system. Ultrasound Obstet Gynecol. 2002;19:274–7.Google Scholar

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