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Original article

Vol. 144 No. 0506 (2014)

A new era in prenatal care: non-invasive prenatal testing in Switzerland

  • Gwendolin Manegold-Brauer
  • Anjeung Kang Bellin
  • Sinuhe Hahn
  • Christian De Geyter
  • Johanna Buechel
  • Irene Hoesli
  • Olav Lapaire
DOI
https://doi.org/10.4414/smw.2014.13915
Cite this as:
Swiss Med Wkly. 2014;144:w13915
Published
26.01.2014

Summary

QUESTIONS UNDER STUDY: Prenatal care has been significantly influenced by the introduction of non-invasive prenatal testing (NIPT) for aneuploidies in 2012. The aim of this study was to describe the current impact of NIPT on prenatal care.

METHODS: We performed a retrospective data analysis including all women with singleton pregnancies who presented for first trimester screening (FTS) between 1 October 2011 and 30 March 2013 and those seeking NIPT. According to the results of FTS the women were categorised into three risk groups: low risk for aneuploidy (<1:300), intermediate risk (1:300–1:50) and high risk (>1:50). They were counselled about the available options for invasive prenatal testing (IPT) and NIPT available at the time of FTS. The nine months before and after the introduction of NIPT were evaluated regarding further testing after FTS.

RESULTS: In total, 951 women were included: 505 examinations (group 1) were carried out before NIPT became available, 446 (group 2) thereafter. In group 2, 9.0% (40/446) had NIPT. Here, 60.0% (24/40) had a low risk according to FTS. In group 2 there was an increase of 3.6% of additional prenatal tests after FTS. The greatest increase was noted in the intermediate-risk category (10.7%). The number of invasive prenatal tests decreased by 67.4%.

CONCLUSIONS: We observed a notable increase in prenatal testing after the implementation of NIPT. NIPT is an additional test for women who need more reassurance. Since the options for pregnant women become more complex and the costs of NIPT are high, prenatal counselling has become more challenging.

References

  1. Benn P, Cuckle H, Pergament E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 2013;42(1):15–33.
  2. Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350:485–7.
  3. Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Nat Acad Sci U S A. 2008;105:16266–71.
  4. Chiu RWK, Akolekar R, Zheng YWL, Leung TY, Sun H, Chan KCA, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. Br Med J. 2011;342:c7401.
  5. Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol. 2011;204:205.e1–e11.
  6. Sparks AB, Struble CA, Wang ET, Song K, Oliphant A. Non-invasive Prenatal Detection and Selective Analysis of Cell-free DNA Obtained from Maternal Blood: Evaluation for Trisomy 21 and Trisomy 18. Am J Obstet Gynecol. 2012;206:322.e1–5.
  7. Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Ne­veux LM, Ehrich M, et al. DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study. Genetics in medicine official journal of the American College of Medical Genetics. 2011;13:913–20.
  8. Chen E, Chiu RWK, Sun H, Akolekar R, Chan K, Leung T, et al. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One. 2011;6(7):e21791.
  9. Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP. Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing. Obstetrics and gynecology. 2012;119:1–13.
  10. Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB, et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012;207:1–8.
  11. Guex N, Iseli C, Syngelaki A, Deluen C, Pescia G, Nicolaides KH, et al. A robust 2nd generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in maternal blood. Prenatal diagnosis. 2013;
  12. Kagan KO, Wright D, Valencia C, Maiz N, Nicolaides KH. Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free beta-hCG and pregnancy-associated plasma protein-A. Human reproduction Oxford England. 2008;23:1968–75.
  13. Nicolaides KH, Syngelaki A, Ashoor G, Birdir C, Touzet G. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol. 2012;207:374.e1–6.
  14. Kollmann M, Haeusler M, Haas J, Csapo B, Lang U, Klaritsch P. Procedure-Related Complications after Genetic Amniocentesis and Chorionic Villus Sampling. Ultraschall in der Medizin Stuttgart Germany 1980. 2012;
  15. Tabor A, Philip J, Madsen M, Bang J, Obel EB, Nørgaard-Pedersen B. Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet. 1986 p. 1287–93.
  16. Devers P, Cronister A, Ormond K, Facio F, Brasington C, Flodman P. Noninvasive prenatal testing/noninvasive prenatal diagnosis:the position of the national society of genetic counselors. J Genet Couns. 2013;22(3):291–5.
  17. American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol. 2012;120(6):1532–4.
  18. Kagan K, Hoopmann M, Kozlowski P. Assessment of fetal DNA in maternal blood-a useful tool in the hands of prenatal specialists. Geburtsh Frauenheilk. 2012;72:998–1003.
  19. Mersy E, Smits LJM, Van Winden LAAP, De Die-Smulders CEM, Paulussen ADC, Macville MVE, et al. Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012. Human reproduction update. 2013;0:1–12.
  20. Bilardo CM, Müller MA, Pajkrt E, Clur SA, van Zalen MM, Bijlsma EK. Increased nuchal translucency thickness and normal karyotype: time for parental reassurance. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Internet]. 2007 Jul [cited 2013 Oct 28];30(1):11–8. Available from: http://www.ncbi.nlm.nih.gov/pubmed/17559183
  21. Hill M, Fisher J, Chitty LS, Morris S. Women’s and health professionals’ preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests. Genetics in medicine official journal of the American College of Medical Genetics. 2012;1–9.
  22. Hahn S, Hoesli I, Lapaire O. Non-invasive prenatal diagnostics using next generation sequencing: technical, legal and social challenges. Expert Opin Med Diagn. 2012;6(6):517–28.

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