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First-trimester presentation of ultrasound findings in trisomy 13 and validation of multiparameter ultrasound-based risk calculation models to detect trisomy 13 in the late first trimester

  • Bartosz Rajs ORCID logo , Agnieszka Nocuń ORCID logo , Anna Matyszkiewicz , Marcin Pasternok , Michał Kołodziejski , Ewa Wiercińska and Marcin Wiecheć ORCID logo EMAIL logo
Published/Copyright: October 19, 2020
Journal of Perinatal Medicine
From the journal Journal of Perinatal Medicine Volume 49 Issue 3

Abstract

Objectives

To identify the most common ultrasound patterns of markers and anomalies associated with Patau syndrome (PS), to explore the efficacy of multiparameter sonographic protocols in detecting trisomy 13 (T13) and to analyze the influence of maternal age (MA) on screening performance.

Methods

The project was a prospective study based on singleton pregnancies referred for a first-trimester screening examination. The scan protocol included nuchal translucency (NT), fetal heart rate (FHR), secondary ultrasound markers [nasal bone (NB), tricuspid regurgitation (TR), ductus venosus reversed a-wave (revDV)] and major anomaly findings.

Results

The study population comprised 6133 pregnancies: 6077 cases of euploidy and 56 cases of T13. Statistically significant differences were found in MA, FHR, NT, absence of NB, presence of revDV, TR and single umbilical artery. Fourteen cases of T13 (25%) demonstrated no markers of aneuploidy. The best general detection rate (DR) (DR of 78.6% with an false positive rate (FPR) of 1.2%) was obtained for a cutoff of 1/300 utilizing the “NT+T13” algorithm. The logistic regression model revealed that the central nervous system (CNS) anomalies had the greatest odds ratio (of 205.4) for T13.

Conclusions

The effectiveness of the multiparameter sonographic protocol used for T13 screening showed promising results in patients older than 36 years and suboptimal results in patients between 26 and 36 years old. When screening for T13 left heart defects, CNS anomalies, abdominal anomalies, FHR above the 95th percentile, increased NT, revDV and lack of NB should receive specific attention.

Keywords: first-trimester; first trimester screening; mesocardia; patau syndrome; trisomy 13
Corresponding author: Marcin Wiecheć MD, PhD, Department of Gynecology and Obstetrics, Faculty of Medicine, Jagiellonian University Medical College, 23 Kopernik Street, 31-501 Krakow, Poland; and Ultrasound Group Practice “MWU DOBREUSG”, Krakow, Poland, Phone: +48 12 4248423, E-mail:

  1. Research funding: None declared.

  2. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  3. Competing interests: Authors state no conflict of interest.

  4. Informed consent: Informed consent was obtained from all individuals included in this study.

  5. Ethical approval: The local Ethics Committee approved the study protocol.

References

1. Chen, CP. Prenatal sonographic features of fetuses in trisomy 13 pregnancies (III). Taiwan J Obstet Gynecol 2009;48:342–9. https://doi.org/10.1016/s1028-4559(09)60322-3.Search in Google Scholar

2. Tonks, AM, Gornall, AS, Larkins, SA, Gardosi, JO. Trisomies 18 and 13: trends in prevalence and prenatal diagnosis – population based study. Prenat Diagn 2013;33:742–50. https://doi.org/10.1002/pd.4117.Search in Google Scholar

3. Guide 1.4: Instruction for the registration of congenital anomalies. EUROCAT central registry. Northern Ireland: University of Ulster; 2013. https://eu-rd-platform.jrc.ec.europa.eu/eurocat_en EUROCAT.Search in Google Scholar

4. Witters, G, Van Robays, J, Willekes, C, Coumans, A, Peeters, H, Gyselaers, W, et al.. Trisomy 13, 18, 21, triploidy and Turner syndrome: the 5T’s. Look at the hands. Facts Views Vis Obgyn 2011;3:15–21.Search in Google Scholar

5. Duque, JA, Ferreira, CF, Zachia, SD, Sanseverino, MT, Gus, R, Magalhães, JA. The natural history of pregnancies with prenatal diagnosis of trisomy 18 or trisomy 13: retrospective cases of a 23-year experience in a Brazilian public hospital. Genet Mol Biol 2019;42, :286–96. https://doi.org/10.1590/1678-4685-gmb-2018-0099.Search in Google Scholar

6. Spencer, K, Ong, C, Skentou, H, Liao, H, Nicolaides, K. Screening for trisomy 13 by fetal nuchal translucency and maternal serum free beta-hCG and PAPP-A at 10–14 weeks of gestation. Prenat Diagn 2000;20:411–16. https://doi.org/10.1002/(sici)1097-0223(200005)20:5<411::aid-pd822>3.0.co;2-2.10.1002/(SICI)1097-0223(200005)20:5<411::AID-PD822>3.0.CO;2-2Search in Google Scholar

7. Bestwick, JP, Huttly, WJ, Wald, NJ. Detection of trisomy 18 and trisomy 13 using first and second trimester Down’s syndrome screening markers. J Med Screen 2013;20:57–65. https://doi.org/10.1177/0969141313484904.Search in Google Scholar

8. Rajs, B, Pasternok, M, Nocuń, A, Matyszkiewicz, A, Ziętek, D, Rozmus-Warcholińska, W, et al.. Clinical article: screening for trisomy 13 using traditional combined screening versus an ultrasound-based protocol. J Matern Fetal Neonatal Med 2019;1–7. https://doi.org/10.1080/14767058.2019.1623779.Search in Google Scholar

9. Spencer, K, Spencer, CE, Power, M, Dawson, C, Nicolaides, KH. Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a onestop clinic: a review of three years prospective experience. Br J Obstet Gynaecol 2003;110:281–6. https://doi.org/10.1046/j.1471-0528.2003.02246.x.Search in Google Scholar

10. Nicolaides, KH, Spencer, K, Avgidou, K, Faiola, S, Falcon, O. Multicenter study of first trimester screening for trisomy 21 in 75821 pregnancies: results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening. Ultrasound Obstet Gynecol 2005;25:221–6. https://doi.org/10.1002/uog.1860.Search in Google Scholar

11. Kagan, KO, Wright, D, Baker, A, Sahota, D, Nicolaides, KH. Screening for trisomy 21 by maternal age, fetal nuchal translucency thickness, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 2008;31:618–24. https://doi.org/10.1002/uog.5331.Search in Google Scholar

12. Vogel, I, Tabor, A, Ekelund, C, Lou, S, Hyett, J, Petersen, OB. Population-based screening for trisomies and atypical chromosomal abnormalities: improving efficacy using the combined first trimester screening algorithm as well as individual risk parameters. Fetal Diagn Ther 2019;45:424–9. https://doi.org/10.1159/000492152.Search in Google Scholar

13. 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. https://doi.org/10.1002/uog.17283.Search in Google Scholar PubMed

14. Ashoor, G, Syngelaki, A, Wang, E, Struble, C, Oliphant, A, Song, K, et al. Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method. Ultrasound Obstet Gynecol 2013;41:21–5. https://doi.org/10.1002/uog.12299.Search in Google Scholar PubMed

15. Gil, MM, Quezada, MS, Revello, R, Akolekar, R, Nicolaides, KH, et al. Analysis of cell free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2015;45:249–66. https://doi.org/10.1002/uog.14791.Search in Google Scholar PubMed

16. Papageorghiou, AT, Avgidou, K, Spencer, K, Nix, B, Nicolaides, KH. Sonographic screening for trisomy 13 at 11 to 13(+6) weeks of gestation. Am J Obstet Gynecol 2006;194:397–401. https://doi.org/10.1016/j.ajog.2005.08.010.Search in Google Scholar PubMed

17. Wagner, P, Sonek, J, Hoopmann, M, Abele, H, Kagan, KO. First‐trimester screening for trisomies 18 and 13, triploidy and Turner syndrome by detailed early anomaly scan. Ultrasound Obstet Gynecol 2016;48:446–51. https://doi.org/10.1002/uog.15829.Search in Google Scholar PubMed

18. Wiechec, M, Knafel, A, Nocun, A, Matyszkiewicz, A, Juszczak, M, Wiercinska, E. How effective is first-trimester screening for trisomy 21 based on ultrasound only? Fetal Diagn Ther 2016;39:105–12. https://doi.org/10.1159/000434632.Search in Google Scholar PubMed

19. Wiechec, M, Anna, K, Nocun, A, Matyszkiewicz, A, Wiercinska, E, Latała, E. How effective is ultrasound-based screening for trisomy 18 without the addition of biochemistry at the time of late first trimester? J Perinat Med 2016;44:149–59. https://doi.org/10.1515/jpm-2014-0384.Search in Google Scholar PubMed

20. Springhall, EA, Rolnik, DL, Reddy, M, Ganesan, S, Maxfield, M, Ramkrishna, J, et al. How to perform a sonographic morphological assessment of the fetus at 11–14 weeks of gestation. Australas J Ultrasound Med 2018;21:125–37. https://doi.org/10.1002/ajum.12109.Search in Google Scholar PubMed PubMed Central

21. Kotarski, J, Wielgos, M. Rekomendacje Polskiego Towarzystwa Ginekologicznego dotyczące postępowania w zakresie diagnostyki prenatalnej. Ginekol Pol 2009;80:390–3.Search in Google Scholar

22. Bethune, M, Alibrahim, E, Davies, B, Yong, E. A pictorial guide for the second trimester ultrasound. Australas J Ultrasound Med 2013;16:98–113. https://doi.org/10.1002/j.2205-0140.2013.tb00106.x.Search in Google Scholar PubMed PubMed Central

23. Nicolaides, KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 2011;31:7–15. https://doi.org/10.1002/pd.2637.Search in Google Scholar PubMed

24. Wright, D, Syngelaki, A, Bradbury, I, Akolekar, R, Nicolaides, KH. First-trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing. Fetal Diagn Ther 2014;35:118–26. https://doi.org/10.1159/000357430.Search in Google Scholar PubMed

25. Faiola, S, Tsoi, E, Huggon, IC, Allan, LD, Nicolaides, KH. Likelihood ratio for trisomy 21 in fetuses with tricuspid regurgitation at the 11 to 13 þ 6-week scan. Ultrasound Obstet Gynecol 2005;26:22–7. https://doi.org/10.1002/uog.1922.Search in Google Scholar PubMed

26. Cicero, S, Longo, D, Rembouskos, G, Sacchini, C, Nicolaides, KH. Absent nasal bone at 11–14 weeks of gestation and chromosomal defects. Ultrasound Obstet Gynecol 2003;22:31–5. https://doi.org/10.1002/uog.170.Search in Google Scholar PubMed

27. Maiz, N, Valencia, C, Kagan, KO, Wright, D, Nicolaides, KH. Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11–13 weeks of gestation. Ultrasound Obstet Gynecol 2009;33:512–17. https://doi.org/10.1002/uog.6330.Search in Google Scholar PubMed

28. Wiechec, M, Nocun, A, Knafel, A, Wiercinska, E, Sonek, J, Rozmus-Warcholinska, W, et al. Combined screening test for trisomy 21 – is it as efficient as we believe? J Perinat Med 2017;45:185–91. https://doi.org/10.1515/jpm-2016-0031.Search in Google Scholar PubMed

29. Wiechec, M, Knafel, A, Nocun, A, Wiercinska, E, Ludwin, A, Ludwin, I. What are the most common first-trimester ultrasound findings in cases of Turner syndrome? J Matern Fetal Neonatal Med 2017;30:1632–6. https://doi.org/10.1080/14767058.2016.1220525.Search in Google Scholar PubMed

30. Watson, WJ, Miller, RC, Wax, JR, Hansen, WF, Yamamura, Y, Polzin, WJ. Sonographic detection of trisomy 13 in the first and second trimesters of pregnancy. J Ultrasound Med 2007;26:1209–14. https://doi.org/10.7863/jum.2007.26.9.1209.Search in Google Scholar PubMed

31. Kroes, I, Janssens, S, Defoort, P. Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases. Facts Views Vis Obgyn 2014;6:245–9.Search in Google Scholar

32. Papp, C, Beke, A, Ban, Z, Szigeti, Z, Toth-Pal, E, Papp, Z. Prenatal diagnosis of trisomy 13: analysis of 28 cases. J Ultrasound Med 2006;25:429–35. https://doi.org/10.7863/jum.2006.25.4.429.Search in Google Scholar PubMed

33. Szigeti, Z, Csapo, Z, Joo, JG, Pete, B, Papp, Z, Papp, C. Correlation of prenatal ultrasound diagnosis and pathologic findings in fetuses with trisomy 13. Prenat Diagn 2006;26:1262–6. https://doi.org/10.1002/pd.1604.Search in Google Scholar PubMed

34. Snijders, RJ, Sebire, NJ, Souka, A, Santiago, C, Nicolaides, KH. Fetal exomphalos and chromosomal defects: relationship to maternal age and gestation. Ultrasound Obstet Gynecol 1995;6:250–5. https://doi.org/10.1046/j.1469-0705.1995.06040250.x.Search in Google Scholar PubMed

35. Abele, H, Wagner, P, Sonek, J, Hoopmann, M, Brucker, S, Artunc-Ulkumen, B, et al. First trimester ultrasound screening for Down syndrome based on maternal age, fetal nuchal translucency and different combinations of the additional markers nasal bone, tricuspid and ductus venosus flow. Prenat Diagn 2015;35:1182–6. https://doi.org/10.1002/pd.4664.Search in Google Scholar PubMed

36. Benacerraf, B. Ultrasound of Fetal Syndromes, 2nd ed. Philadelphia: Churchill Livingstone, Elsevier; 2008. 483–96 pp.Search in Google Scholar

37. Savva, GM, Walker, K, Morris, JK. The maternal age-specific live birth prevalence of trisomies 13 and 18 compared to trisomy 21 (Down syndrome). Prenat Diagn 2010;30:57–64. https://doi.org/10.1002/pd.2403.Search in Google Scholar PubMed

Supplementary Material

The online version of this article offers supplementary material (https://doi.org/10.1515/jpm-2020-0383).

Received: 2020-05-14
Accepted: 2020-09-19
Published Online: 2020-10-19
Published in Print: 2021-03-26

© 2020 Walter de Gruyter GmbH, Berlin/Boston

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https://doi.org/10.1515/jpm-2020-0383
Keywords for this article
first-trimester; first trimester screening; mesocardia; patau syndrome; trisomy 13

Articles in the same Issue

  1. Frontmatter
  2. Review
  3. Clinical evaluation of labor: an evidence- and experience-based approach
  4. Original Articles – Obstetrics
  5. How fever is defined in COVID-19 publications: a disturbing lack of precision
  6. Initial review of pregnancy and neonatal outcomes of pregnant women with COVID-19 infection
  7. Usefulness of COVID-19 screen-and-test approach in pregnant women: an experience from a country with low COVID-19 burden
  8. Clinical chorioamnionitis at term X: microbiology, clinical signs, placental pathology, and neonatal bacteremia – implications for clinical care
  9. Cytokine profiling: variation in immune modulation with preterm birth vs. uncomplicated term birth identifies pivotal signals in pathogenesis of preterm birth
  10. Hyperechoic amniotic membranes in patients with preterm premature rupture of membranes (p-PROM) and pregnancy outcome
  11. A novel technique for prediction of preterm birth: fetal nasal flow Doppler
  12. Pregnant women’s knowledge and behaviour to prevent cytomegalovirus infection: an observational study
  13. Reference intervals and reliability of cavum septi pellucidi volume measurements by three-dimensional ultrasound between 19 and 24 weeks’ gestation
  14. First-trimester presentation of ultrasound findings in trisomy 13 and validation of multiparameter ultrasound-based risk calculation models to detect trisomy 13 in the late first trimester
  15. Pre-operative tranexemic acid vs. etamsylate in reducing blood loss during elective cesarean section: randomized controlled trial
  16. External validation of a prediction model on vaginal birth after caesarean in a The Netherlands: a prospective cohort study
  17. The influence of race on cervical length in pregnant women in Brazil
  18. Original Articles – Fetus
  19. A 24-segment fractional shortening of the fetal heart using FetalHQ
  20. Original Articles – Neonates
  21. Antenatal corticosteroids and short-term neonatal outcomes in term and near-term infants of diabetic mothers. Analysis of the Qatar PEARL-peristat registry
  22. Acute respiratory effect of transpyloric feeding for respiratory exacerbation in preterm infants
  23. Quality improvement for reducing utilization drift in hypoxic-ischemic encephalopathy management
  24. Letter to the Editor
  25. Cross transmission of SARS-CoV-2 and obstetric ultrasound
  26. ‘Getting to zero’ cross transmission of SARS-CoV-2 in obstetric ultrasound during COVID-19 pandemic
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