##common.pageHeaderLogo.altText##

Viewpoint

Vol. 155 No. 6 (2025)

Non-invasive prenatal testing is not a substitute for first trimester ultrasound screening

Cite this as:
Swiss Med Wkly. 2025;155:4610
Published
26.06.2025

Summary

The ultrasound examination in the first trimester is a crucial tool in prenatal diagnostics. Its primary aim is the early detection of fetal structural anomalies with the option to assess the risk for the common fetal trisomies (in Switzerland: “Ersttrimestertest”). The latter is achieved by combining ultrasound data with biochemical blood tests.

In addition to chromosomal diagnostics, the first-trimester ultrasound plays an essential role in evaluating pregnancy risks as well as the overall health of the fetus. This method is non-invasive, safe and effective, offering invaluable information to both healthcare professionals and expectant parents that is critical for further pregnancy care.

The introduction and wide-spread use of another, molecular test, NIPT (“non-invasive prenatal testing”) should be seen as a useful additional option to, not a substitute for first trimester ultrasound. NIPT has high detection rates for “the common trisomies”, but, in isolation, is insufficient for comprehensive early fetal assessment.

References

  1. Spencer K, Souter V, Tul N, Snijders R, Nicolaides KH. A screening program for trisomy 21 at 10-14 weeks using fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol. 1999 Apr;13(4):231–7. doi: https://doi.org/10.1046/j.1469-0705.1999.13040231.x
  2. Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet. 1998 Apr;62(4):768–75. doi: https://doi.org/10.1086/301800
  3. Ochsenbein N, Burkhardt T, Raio L, Vial Y, Surbek D, Tercanli S, et al. Pränatale nicht-invasive Risikoabschätzung fetaler Aneuploidien. SGGG Expertenbrief No. 52. 2018. Available from: https://www.sggg.ch/fileadmin/user_upload/PDF/20180411_52_Praenatale_nicht-invasive_Risikoabschaetzung_fetaler_Aneuploidien_07032018.pdf
  4. Wright D, Kagan KO, Molina FS, Gazzoni A, Nicolaides KH. A mixture model of nuchal translucency thickness in screening for chromosomal defects. Ultrasound Obstet Gynecol. 2008 Apr;31(4):376–83. doi: https://doi.org/10.1002/uog.5299
  5. Merz E, Thode C, Alkier A, Eiben B, Hackelöer BJ, Hansmann M, et al. A new approach to calculating the risk of chromosomal abnormalities with first-trimester screening data. Ultraschall Med. 2008 Dec;29(6):639–45. doi: https://doi.org/10.1055/s-2008-1027958
  6. Gadsbøll K, Brix N, Sandager P, Petersen OB, Souka AP, Nicolaides KH, et al. Increased nuchal translucency thickness and normal chromosomal microarray: danish nationwide cohort study. Ultrasound Obstet Gynecol. 2025 Apr;65(4):462–9. doi: https://doi.org/10.1002/uog.29198
  7. Tørring N, Petersen OB, Becher N, Vogel I, Uldbjerg N; Danish Fetal Medicine Study Group; Danish Clinical Genetics Study Group. First trimester screening for other trisomies than trisomy 21, 18, and 13. Prenat Diagn. 2015 Jun;35(6):612–9. doi: https://doi.org/10.1002/pd.4584
  8. Stallings EB, Isenburg JL, Rutkowski RE, Kirby RS, Nembhard WN, Sandidge T, et al.; National Birth Defects Prevention Network. National population-based estimates for major birth defects, 2016-2020. Birth Defects Res. 2024 Jan;116(1):e2301. doi: https://doi.org/10.1002/bdr2.2301
  9. Dolk H, Loane M, Garne E. The prevalence of congenital anomalies in Europe. Adv Exp Med Biol. 2010;686:349–64. doi: https://doi.org/10.1007/978-90-481-9485-8_20
  10. 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. Hum Reprod. 2008 Sep;23(9):1968–75. doi: https://doi.org/10.1093/humrep/den224