Диагностика аномалий центральной нервной системы у плода в первом триместре беременности

1. Tagliabue G., Tessandori R., Caramaschi F., Fabiano S., Maghini A., Tittarelli A. et al. Descriptive epidemiology of selected birth defects, areas of Lombardy, Italy, 1999. Popul. Health Metr. 2007; 5: 4. https://dx.doi.org/10.1186/1478-7954-5-4
2. Туманова У.Н., Шувалова М.П., Щеголев А.И. Анализ статистических показателей врожденных аномалий как причины ранней неонатальной смерти в Российской Федерации. Росcийский вестник перинатологии и педиатрии. 2018; 63(6): 60-7.
3. Atta C.A., Fiest K.M., Frolkis A.D., Jette N., Pringsheim T., St Germaine-Smith C. et al. Global birth prevalence of spina bifida by folic acid fortification status: a systematic review and meta-analysis. Am. J. Public Health. 2016; 106(1): e24-34. https://dx.doi.org/10.2105/AJPH.2015.302902
4. Morris J.K., Wellesley D.G., Barisic I., Addor M.C., Bergman J.E.H., Braz P. et al. Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study. Arch. Dis. Child. 2019; 104(12): 1181-7. https://dx.doi.org/10.1136/archdischild-2018-316733
5. Leibovitz Z., Lerman-Sagie T., Haddad L. Fetal brain development: regulating processes and related malformations. Life (Basel). 2022; 12(6): 809. https://dx.doi.org/10.3390/life12060809
6. Myrianthopoulos N.C. Epidemiology of central nervous system malformations. In: Vinken P.J., Bruyn G.W., eds. Handbook of Clinical Neurology. Elsevier: Amsterdam; 1977: 139-71.
7. Engels A.C., Joyeux L., Brantner C., De Keersmaecker B., De Catte L., Baud D. et al. Sonographic detection of central nervous system defects in the first trimester of pregnancy. Prenat. Diagn. 2016; 36(3): 266-73. https://dx.doi.org/10.1002/pd.4770
8. Cara M.L., Streatam I., Buga A.M., Iliescu D.G. Developmental brain asymmetry. The good and the bad sides. Symmetry. 2022; 14(1): 128. https://dx.doi.org/10.3390/sym14010128
9. Andescavage N.N., Du Plessis A., McCarter R., Serag A., Evangelou I., Vezina G. et al. Complex trajectories of brain development in the healthy human fetus. Cerebral Cortex. 2017; 27(11): 5274-83. https://dx.doi.org/10.1093/cercor/bhw306
10. Malinger G., Paladini D., Haratz K.K., Monteagudo A., Pilu G.L., Timor-Tritsch I.E. ISUOG Practice Guidelines (updated): sonographic examination of the fetal central nervous system. Part 1: performance of screening examination and indications for targeted neurosonography. Ultrasound Obstet. Gynecol. 2020; 56(3): 476-84. https://dx.doi.org/10.1002/uog.22145
11. Hu Y., Sun L., Feng L., Wang J., Zhu Y., Wu Q. The role of routine first-trimester ultrasound screening for central nervous system abnormalities: a longitudinal single-center study using an unselected cohort with 3-year experience. BMC Pregnancy Childbirth. 2023; 23(1): 312. https://dx.doi.org/10.1186/s12884-023-05644-z
12. Syngelaki A., Hammami A., Bower S., Zidere V., Akolekar R., Nicolaides K.H. Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation. Ultrasound Obstet. Gynecol. 2019; 54(4): 468-76. https://dx.doi.org/10.1002/uog.20844
13. Martins Santana E.F., Araujo Júnior E., Tonni G., Costa F.D.S., Meagher S. Acrania-exencephaly-anencephaly sequence phenotypic characterization using two- and three-dimensional ultrasound between 11 and 13 weeks and 6 days of gestation. J. Ultrason. 2018; 18(74): 240-6. https://dx.doi.org/10.15557/JoU.2018.0035
14. Rousian M., Groenenberg I.A., Hop W.C., Koning A.H., van der Spek P.J., Exalto N. et al. Human embryonic growth and development of the cerebellum using 3-dimensional ultrasound and virtual reality. Reprod. Sci. 2013; 20(8): 899-908. https://dx.doi.org/10.1177/1933719112468950
15. Scheier M., Lachmann R., Pětroš M., Nicolaides K.H. Three-dimensional sonography of the posterior fossa in fetuses with open spina bifida at 11-13 weeks' gestation. Ultrasound Obstet. Gynecol. 2011; 38(6): 625-9. https://dx.doi.org/10.1002/uog.9067
16. Peker N., Yeniel A.O., Ergenoglu M., Hurşitoğlu S., Akercan F., Karadadaş N. Combination of intracranial translucency and 3D sonography in the first trimester diagnosis of neural tube defects: case report and review of literature. Ginekol. Pol. 2013; 84(1): 65-7. https://dx.doi.org/10.17772/gp/1543
17. Altmann R., Schertler C., Scharnreitner I., Arzt W., Dertinger S., Scheier M. Diagnosis of fetal posterior fossa malformations in high-risk pregnancies at 12-14 gestational weeks by transvaginal ultrasound examination. Fetal. Diagn. Ther. 2020; 47(3): 182-7. https://dx.doi.org/10.1159/000501500
18. Ushakov F., Sacco A., Andreeva E., Tudorache S., Everett T., David A.L. et al. Crash sign: new first-trimester sonographic marker of spina bifida. Ultrasound Obstet. Gynecol. 2019; 54(6): 740-5. https://dx.doi.org/10.1002/uog.20285
19. Pertl B., Eder S., Stern C., Verheyen S. The fetal posterior fossa on prenatal ultrasound imaging: normal longitudinal development and posterior fossa anomalies. Ultraschall. Med. 2019; 40(6): 692-721. https://dx.doi.org/10.1055/a-1015-0157
20. Volpe P., De Robertis V., Volpe G., Boito S., Fanelli T., Olivieri C. et al. Position of the choroid plexus of the fourth ventricle in first- and second-trimester fetuses: a novel approach to early diagnosis of cystic posterior fossa anomalies. Ultrasound Obstet. Gynecol. 2021; 58(4): 568-75. https://dx.doi.org/10.1002/uog.23651
21. He S., Ruan J., Wang X., Lyu G., Wei Y., Huang T. et al. Measurement of fetal conus distance with 3D ultrasonography as a reliable prenatal diagnosis method for tethered cord syndrome. J. Obstet. Gynaecol. Res. 2020; 46(4): 587-94. https://dx.doi.org/10.1111/jog.14202
22. Ramirez Zegarra R., Volpe N., Bertelli E., Amorelli G.M., Ferraro L., Schera G.B.L. et al. Three-dimensional sonographic evaluation of the position of the fetal conus medullaris at first trimester. Fetal Diagn. Ther. 2021; 48(6): 464-71. https://dx.doi.org/10.1159/000516516
23. Conturso R., Contro E., Bellussi F., Youssef A., Pacella G., Martelli F. et al. Demonstration of the pericallosal artery at 11-13 weeks of gestation using 3D ultrasound. Fetal Diagn. Ther. 2015; 37(4): 305-9. https://dx.doi.org/10.1159/000366156
24. Birnbaum R., Barzilay R., Brusilov M., Wolman I., Malinger G. The early pattern of human corpus callosum development: A transvaginal 3D neurosonographic study. Prenat. Diagn. 2020; 40(10): 1239-45. https://dx.doi.org/10.1002/pd.5735
25. Leibovitz Z., Lerman-Sagie T., Haddad L. Fetal brain development: regulating processes and related malformations. Life (Basel). 2022; 12(6): 809. https://dx.doi.org/10.3390/life12060809
26. Engels A.C., Joyeux L., Brantner C., De Keersmaecker B., De Catte L., Baud D. et al. Sonographic detection of central nervous system defects in the first trimester of pregnancy. Prenat. Diagn. 2016; 36(3): 266-73. https://dx.doi.org/10.1002/pd.4770
27. O'Rahilly R., Müller F. Significant features in the early prenatal development of the human brain. Ann. Anat. 2008; 190(2): 105-18. https://dx.doi.org/10.1016/j.aanat.2008.01.001
28. Müler F., O’Rahilly R. Embryonic development of the central nervous system. In: Paxinos G., Jürgen K.M., eds. The Human Nervous System, Second Edition. San Diego, California, USA Elsevier Academic Press;2004: 22-48.
29. Boitor-Borza D., Crivii C., Farcasanu S., Stamatian F. Morphology of the human brain in the embryonic period: anatomical study and assessment by 7T magnetic resonance imaging. Obstetrica şi Ginecologia. 2015;LXIII: 47-52.
30. Boitor-Borza D., Kovacs T., Stamatian F. Ganglionic eminence within the early developing brain visualized by 3D transvaginal ultrasound. Med. Ultrason. 2015; 17(3): 289-94. https://dx.doi.org/10.11152/mu.2013.2066.173.rbb
31. Altmann R., Rechberger T., Altmann C., Hirtler L., Scharnreitner I., Stelzl P. et al. Development of the prosencephalic structures, ganglionic eminence, basal ganglia and thalamus at 11 + 3 to 13 + 6 gestational weeks on 3D transvaginal ultrasound including normative data. Brain Struct. Funct. 2023; 228(9):2089-101. https://dx.doi.org/10.1007/s00429-023-02679-y
32. Altmann R., Scharnreitner I., Auer C., Hirtler L., Springer C., Falschlehner S. et al. Visualization of the third ventricle, the future cavum septi pellucidi, and the cavum veli interpositi at 11+3 to 13+6 gestational weeks on 3D transvaginal ultrasound including normative data. Ultraschall. Med. 2023; 44(1): e72-e82. https://dx.doi.org/10.1055/a-1683-6141
33. Comănescu M.C., Căpitănescu R.G., Comănescu A.C., Cernea N., Popa A., Barbu E.M. et al. First trimester neurosonogram-our experience. Curr. Health Sci. J. 2019; 45(2): 167-73. https://dx.doi.org/10.12865/CHSJ.45.02.06
34. Abuhamad A., Chaoui R. The getal central nervous system. In: Abuhamad A., Chaoui R., eds. First trimester ultrasound diagnosis of fetal abnormalities. 1. Philadelphia: Wolters Kluwer Health; 2018: 113-44.
35. Lachmann R., Chaoui R., Moratalla J., Picciarelli G., Nicolaides K.H. Posterior brain in fetuses with open spina bifida at 11 to 13 weeks. Prenat. Diagn. 2011; 31(1): 103-6. https://dx.doi.org/10.1002/pd.2632
36. Andreeva E. Octopus-like sign for diagnosis of spina bifida and Dandy-Walker anomaly at 11-13 weeks. sonoworld.com; 2013. Available at: https://sonoworld.com/TheFetus/page.aspx?id=3347
37. Comanescu A., Cernea N., Tica O., Alexandru D., Comanescu C. OP07.04: Choroid plexus / head area ratio in normal and in spina bifida cases at 11–13+6 weeks' ultrasound. Ultrasound Obstet. Gynecol. 2016; 48(S1): 72-72. https://dx.doi.org/10.1002/uog.16224
38. Volpe N., Dall'Asta A., Di Pasquo E., Frusca T., Ghi T. First-trimester fetal neurosonography: technique and diagnostic potential. Ultrasound Obstet. Gynecol. 2021; 57(2): 204-14. https://dx.doi.org/10.1002/uog.23149
39. Ungureanu D.R., Drăgușin R.C., Căpitănescu R.G., Zorilă L., Ofițeru A.M.I., Marinaș C. et al. First trimester ultrasound detection of fetal central nervous system anomalies. Brain Sci. 2023; 13(1): 118. https://dx.doi.org/10.3390/brainsci13010118
40. Paladini D., Malinger G., Monteagudo A., Pilu G., Timor-Tritsch I., Toi A. Sonographic examination of the fetal central nervous system: guidelines for performing the ‘basic examination’ and the ‘fetal neurosonogram’. Ultrasound Obstet. Gynecol. 2007; 29(1): 109-16. https://dx.doi.org/10.1002/uog.3909
41. Iliescu D., Tudorache S., Comanescu A., Antsaklis P., Cotarcea S., Novac L. et al. Improved detection rate of structural abnormalities in the first trimester using an extended examination protocol. Ultrasound Obstet. Gynecol. 2013; 42(3): 300-9. https://dx.doi.org/10.1002/uog.12489
42. Grande M., Arigita M., Borobio V., Jimenez J.M., Fernandez S., Borrell A. First-trimester detection of structural abnormalities and the role of aneuploidy markers. Ultrasound Obstet. Gynecol. 2012; 39(2): 157-63. https://dx.doi.org/10.1002/uog.10070
43. Syngelaki A., Chelemen T., Dagklis T., Allan L., Nicolaides K.H. Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11-13 weeks. Prenat. Diagn. 2011; 31(1): 90-102. https://dx.doi.org/10.1002/pd.2642
44. Xie H.N., Wang N., He M., Zhang L.H., Cai H.M., Xian J.B. et al. Using deep-learning algorithms to classify fetal brain ultrasound images as normal or abnormal. Ultrasound Obstet. Gynecol. 2020; 56(4): 579-87. https://dx.doi.org/10.1002/uog.21967
45. Familiari A., Di Ilio C., Fanelli T., Volpe P., Dall'Asta A., Volpe N. et al. OP02.09: AIRFRAME: artificial intelligence for recognition of fetal brain anomalies from ultrasound images of the first trimester. Ultrasound Obstet. Gynecol. 2024; 64: 64-65. h https://dx.doi.org/10.1002/uog.27891
46. Ferreira C., Rouxinol-Dias A.L., Loureiro T., Nicolaides K. Subarachnoid space diameter in chromosomally abnormal fetuses at 11-13 weeks' gestation. J. Matern. Fetal Neonatal Med. 2019; 32(12): 2079-83. https://dx.doi.org/10.1080/14767058.2018.1425833
47. Pooh R.K. Three-dimensional evaluation of the fetal brain. Donald School Journal of Ultrasound in Obstetrics & Gynecology. 2017; 11(4): 268-75. https://dx.doi.org/10.5005/jp-journals-10009-1532

Поступила 26.02.2025

Принята в печать 15.05.2025