Startseite Novel method for trisomy 21 screening in the first trimester of pregnancy: fetal brain angle
Artikel
Lizenziert
Nicht lizenziert Erfordert eine Authentifizierung

Novel method for trisomy 21 screening in the first trimester of pregnancy: fetal brain angle

  • Mehmet Fatih Karslı , Bülent Çakmak ORCID logo EMAIL logo und Cihat Şen
Veröffentlicht/Copyright: 2. August 2021

Abstract

Objectives

The present study was performed to examine the utility of a new first trimester marker called the “brain angle” (BA) in screening for trisomy 21. We postulate that differences in the midbrain anatomy between euploid fetuses and those that are affected by trisomy 21 are reflected in changes in BA measurements.

Methods

In fetuses at 11+0–13+6 weeks of gestations, which were at high risk for trisomy 21, the angle was measured between the line crossing the thalamus and mesencephalon cranial border tangentially and the line crossing the brainstem lower limit. This angle was compared between fetuses with trisomy 21 (based on karyotyping) and those with a normal karyotype.

Results

Trisomy 21 was detected in 45 (8%) of 560 fetuses. Receiver operating characteristic analysis showed that, at BA≥94°, the sensitivity and specificity for determining trisomy 21 were 97.8% (95% CI=88.2–99.9%) and 100% (95% CI=99.2–100%), respectively.

Conclusions

Fetal BA appears to be a promising new first trimester marker in screening for trisomy 21.


Corresponding author: Bülent Çakmak, Department of Obstetrics and Gynecology, School of Medicine, Niğde Ömer Halisdemir University, Niğde, Turkey, Phone: +905335726978, E-mail:

Acknowledgments

We would like to acknowledge the contribution of M. Yılmaz in drawing of the figure.

  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 Cerrahpasa School of Medicine Ethics Review Committee approved the trial (approval no. 17-A-39).

References

1. Irving, C, Basu, A, Richmond, S, Burn, J, Wren, C. Twenty-year trends in prevalence and survival of down syndrome. Eur J Hum Genet 2008;16:1336–40. https://doi.org/10.1038/ejhg.2008.122.Suche in Google Scholar PubMed

2. Loane, M, Morris, JK, Addor, MC, Arriola, L, Budd, J, Doray, B, et al.. Twenty-year trends in the prevalence of down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening. Eur J Hum Genet 2013;21:27–33. https://doi.org/10.1038/ejhg.2012.94.Suche in Google Scholar PubMed PubMed Central

3. Comas, C, Echevarria, M, Rodríguez, I, Serra, B, Cirigliano, V. Prenatal invasive testing: a 13-year single institution experience. J Matern Fetal Neonatal Med 2014;27:1209–12. https://doi.org/10.3109/14767058.2013.855893.Suche in Google Scholar PubMed

4. Vičić, A, Hafner, T, Bekavac Vlatković, I, Korać, P, Habek, D, Stipoljev, F. Prenatal diagnosis of down syndrome: a 13-year retrospective study. Taiwan J Obstet Gynecol 2017;56:731–5. https://doi.org/10.1016/j.tjog.2017.10.004.Suche in Google Scholar PubMed

5. 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.Suche in Google Scholar PubMed

6. Nyberg, DA, Souter, VL. Use of genetic sonography for adjusting the risk for fetal down syndrome. Semin Perinatol 2003;27:130–44. https://doi.org/10.1053/sper.2003.50012.Suche in Google Scholar PubMed

7. Cicero, S, Curcio, P, Papageorghiou, A, Sonek, J, Nicolaides, K. Absence of nasal bone in fetuses with trisomy 21 at 11–14 weeks of gestation: an observational study. Lancet 2001;358:1665–7. https://doi.org/10.1016/s0140-6736(01)06709-5.Suche in Google Scholar

8. Sonek, JD, Nicolaides, KH. Prenatal ultrasonographic diagnosis of nasal bone abnormalities in three fetuses with down syndrome. Am J Obstet Gynecol 2002;186:139–41. https://doi.org/10.1067/mob.2002.119082.Suche in Google Scholar PubMed

9. Chapman, RS, Hesketh, LJ. Behavioral phenotype of individuals with down syndrome. Ment Retard Dev Disabil Res Rev 2000;6:84–95. https://doi.org/10.1002/1098-2779(2000)6:2<84::aid-mrdd2>3.0.co;2-p.10.1002/1098-2779(2000)6:2<84::AID-MRDD2>3.0.CO;2-PSuche in Google Scholar

10. Vicari, S. Memory development and intellectual disabilities. Acta Paediatr Suppl 2004;93:60–4. https://doi.org/10.1111/j.1651-2227.2004.tb03059.x.Suche in Google Scholar

11. Rachidi, M, Lopes, C. Mental retardation in down syndrome: from gene dosage imbalance to molecular and cellular mechanisms. Neurosci Res 2007;59:349–69. https://doi.org/10.1016/j.neures.2007.08.007.Suche in Google Scholar PubMed

12. Haydar, TF, Reeves, RH. Trisomy 21 and early brain development. Trends Neurosci 2012;35:81–91. https://doi.org/10.1016/j.tins.2011.11.001.Suche in Google Scholar PubMed PubMed Central

13. Dierssen, M. Down syndrome: the brain in trisomic mode. Nat Rev Neurosci 2012;13:844–58. https://doi.org/10.1038/nrn3314.Suche in Google Scholar PubMed

14. Agarwal Gupta, N, Kabra, M. Diagnosis and management of down syndrome. Indian J Pediatr 2014;81:560–7. https://doi.org/10.1007/s12098-013-1249-7.Suche in Google Scholar PubMed

15. Kriss, VM. Down syndrome: imaging of multiorgan involvement. Clin Pediatr 1999;38:441–9. https://doi.org/10.1177/000992289903800801.Suche in Google Scholar PubMed

16. Weisz, B, Pandya, PP, David, AL, Huttly, W, Jones, P, Rodeck, CH. Ultrasound findings after screening for down syndrome using the integrated test. Obstet Gynecol 2007;109:1046–52. https://doi.org/10.1097/01.aog.0000260234.20190.6e.Suche in Google Scholar PubMed

17. Aagaard-Tillery, KM, Malone, FD, Nyberg, DA, Porter, TF, Cuckle, HS, Fuchs, K, et al.. Role of second-trimester genetic sonography after down syndrome screening. Obstet Gynecol 2009;114:1189–96. https://doi.org/10.1097/aog.0b013e3181c15064.Suche in Google Scholar PubMed PubMed Central

18. Agathokleous, M, Chaveeva, P, Poon, LC, Kosinski, P, Nicolaides, KH. Meta-analysis of second-trimester markers for trisomy 21. Ultrasound Obstet Gynecol 2013;41:247–61. https://doi.org/10.1002/uog.12364.Suche in Google Scholar PubMed

19. Vinkesteijn, AS, Jansen, CL, Los, FJ, Mulder, PG, Wladimiroff, JW. Fetal transcerebellar diameter and chromosomal abnormalities. Ultrasound Obstet Gynecol 2001;17:502–5. https://doi.org/10.1046/j.1469-0705.2001.00383.x.Suche in Google Scholar PubMed

20. Rotmensch, S, Goldstein, I, Liberati, M, Shalev, J, Ben-Rafael, Z, Copel, JA. Fetal transcerebellar diameter in down syndrome. Obstet Gynecol 1997;89:534–7. https://doi.org/10.1016/s0029-7844(97)00076-8.Suche in Google Scholar PubMed

21. Takano, M, Hirata, H, Kagawa, Y, Murata, S, Fujiwara, M, Nakata, M. Ratio of fetal anteroposterior to transverse cerebellar diameter for detection of the cerebellar hypoplasia in the second trimester and comparison with trisomy 18. J Obstet Gynaecol Res 2015;41:1757–61. https://doi.org/10.1111/jog.12795.Suche in Google Scholar PubMed

22. Guariglia, L, Rosati, P. Early transvaginal measurement of transcerebellar diameter in down syndrome. Fetal Diagn Ther 1998;13:287–90. https://doi.org/10.1159/000020855.Suche in Google Scholar PubMed

23. Rosati, P, Guariglia, L. Cerebellar hypoplasia: could it be a sonographic finding of abnormal fetal karyotype in early pregnancy? Fetal Diagn Ther 1999;14:365–7. https://doi.org/10.1159/000020960.Suche in Google Scholar PubMed

24. Barkovich, AJ. Developmental disorders of the midbrain and hindbrain. Front Neuroanat 2012;6:7. https://doi.org/10.3389/fnana.2012.00007.Suche in Google Scholar PubMed PubMed Central

25. Soto-Ares, G, Joyes, B, Lemaître, MP, Vallée, L, Pruvo, JP. MRI in children with mental retardation. Pediatr Radiol 2003;33:334–45. https://doi.org/10.1007/s00247-003-0891-z.Suche in Google Scholar PubMed

Received: 2021-02-07
Accepted: 2021-06-25
Published Online: 2021-08-02
Published in Print: 2022-01-27

© 2021 Walter de Gruyter GmbH, Berlin/Boston

Artikel in diesem Heft

  1. Frontmatter
  2. Obituary
  3. Obituary ‒ Erich Saling (1925–2021)
  4. Editorial
  5. The journal Case Reports in Perinatal Medicine starts with Open Access
  6. Review
  7. Physical exercise in pregnancy: benefits, risks and prescription
  8. Corner of Academy
  9. Association between latency period and perinatal outcomes after preterm premature rupture of membranes at 32–37 weeks of gestation: a perinatal registry-based cohort study
  10. Original Articles – Obstetrics
  11. Dosage escalation of antenatal steroids in preterm twin pregnancies does not improve long-term outcome
  12. Fetoscopic laser ablation therapy in monochorionic diamniotic twin pregnancies with twin-to-twin transfusion syndrome treated at a single centre over 10 years: a retrospective study
  13. Induced abortion and COVID-19 as contributing factors to declining fertility in Sardinia
  14. Cardiotocographic features in COVID-19 infected pregnant women
  15. The relation between cigarette smoking with delivery outcomes. An evaluation of a database of more than nine million deliveries
  16. Second trimester prediction of gestational diabetes: maternal analytes as an additional screening tool
  17. Perinatal outcomes in pregnancies complicated by acute pancreatitis
  18. The quality of intrapartum cardiotocography in preterm labour
  19. Novel method for trisomy 21 screening in the first trimester of pregnancy: fetal brain angle
  20. Assessment of intrahepatic cholestasis in pregnancy and the effect of disease severity on transient tachypnea in the newborn in uncomplicated fetuses
  21. Original Articles – Fetus
  22. The role of the brain-sparing effect of growth-restricted fetuses in newborn germinal matrix/intraventricular hemorrhage
  23. Original Articles – Neonates
  24. Postnatal diuretics, weight gain and home oxygen requirement in extremely preterm infants
  25. Letters to the Editor
  26. Anxiety and fear in pregnant women of being infected by COVID-19 in new Delta pandemic
  27. Peripheral and uterine blood viscoelastic testing parameters during postpartum hemorrhage
  28. Comment on “Clinical manifestation, outcomes in pregnant women with COVID-19 and the possibility of vertical transmission: a systematic review of the current data”
  29. Reply to a letter commenting on “Clinical manifestation, outcomes in pregnant women with COVID-19 and the possibility of vertical transmission: a systematic review of the current data”
  30. Book Review
  31. Michael Obladen: Oxford Textbook of The Newborn – A Cultural and Medical History
  32. Acknowledgment
  33. Acknowledgment
Heruntergeladen am 21.9.2025 von https://www.degruyterbrill.com/document/doi/10.1515/jpm-2021-0072/html
Button zum nach oben scrollen