Перспективы и ограничения ультразвуковой диагностики врожденных пороков развития плода в первом триместре беременности. Обзор
Аннотация
Введение. В статье подчеркивается роль ультразвукового исследования (УЗИ) в раннем выявлении врожденных пороков развития (ВПР), особенно важных для здоровья и жизни будущего ребенка. Акцент делается на значении скрининга в первом триместре беременности для определения серьезных аномалий, таких как врожденные пороки сердца (ВПС).
Цель. Осветить текущее состояние и будущие перспективы использования УЗИ в первом триместре для диагностики ВПР, подчеркнув важность этого подхода для улучшения исходов беременности и здоровья новорожденных.
Материалы и методы. Поиск литературы был выполнен в базах данных PubMed, Scopus и Web of Science. Обзор охватывает ретроспективные и проспективные исследования, опубликованные в медицинских журналах, с акцентом на чувствительность и специфичность УЗИ.
Результаты и обсуждение. Представлены результаты анализа данных о чувствительности и специфичности УЗИ в различных исследованиях, а также обсуждается влияние квалификации специалистов и качества оборудования на точность диагностики. Рассматриваются технические возможности и ограничения УЗИ, а также перспективы развития методик пренатального скрининга.
Заключение. УЗИ в первом триместре представляет собой важный инструмент для раннего выявления ВПР. Необходимо дальнейшее совершенствование методов УЗИ, обучение специалистов и стандартизация протоколов исследования для улучшения эффективности скрининга.
Об авторах
А. И. МозерКазахстан
Мозер Анжелика Ионио, врач-резидент радиолог
Адрес: 100000, Республика Казахстан, г. Караганда, ул. Гоголя, 40
Э. И. Пак
Казахстан
Пак Элина Ильинична, врач-резидент радиолог
г. Караганда
Н. А. Магаз
Казахстан
Магаз Назерке Асқарқызы, врач-резидент радиолог
г. Караганда
Список литературы
1. Duc N. M. et al. Detecting fetal central nervous system anomalies using magnetic resonance imaging and ultrasound //Medical Archives. – 2021. – Т. 75. – №. 1. – С. 45.
2. Pimentel I., Costa J., Tavares Ó. Fetal MRI vs. fetal ultrasound in the diagnosis of pathologies of the central nervous system // European Journal of Public Health. – 2021. – Т. 31. – №. Supplement_2. – С. ckab120. 079
3. Zemet R. et al. Prenatal diagnosis of congenital head, face, and neck malformations—is complementary fetal MRI of value? // Prenatal diagnosis. – 2020. – Т. 40. – №. 1. – С. 142-150.
4. Adams N. C. et al. Fetal ultrasound and magnetic resonance imaging: a primer on how to interpret prenatal lung lesions //Pediatric Radiology. – 2020. – Т. 50. – С. 1839-1854.
5. Marini D. et al. MR imaging of the fetal heart //Journal of Magnetic Resonance Imaging. – 2020. – Т. 51. – №. 4. – С. 1030-1044.
6. Abbas H. M. et al. Additive value of fetal MRI to diff ultrasound modalities in diagnosis of fetal GIT and abdominal wall anomalies //Egyptian Journal of Radiology and Nuclear Medicine. – 2023. – Т. 54. – №. 1. – С. 59.
7. Chauvin N. A. et al. Magnetic resonance imaging of the fetal musculoskeletal system //Pediatric Radiology. – 2020. – Т. 50. – С. 2009-2027.
8. Davidson J. R. et al. Fetal body MRI and its application to fetal and neonatal treatment: an illustrative review //The Lancet Child & Adolescent Health. – 2021. – Т. 5. – №. 6. – С. 447-458.
9. Arthuis C. et al. MRI based morphological examination of the placenta //Placenta. – 2021. – Т. 115. – С. 20-26.
10. Sherer D. M. et al. Current perspectives of prenatal sonography of umbilical cord morphology //International Journal of Women's Health. – 2021. – С. 939-971.
11. Prayer D. et al. MRI of fetal acquired brain lesions //European journal of radiology. – 2006. – Т. 57. – №. 2. – С. 233-249.
12. Soares-Fernandes J. P. et al. Neonatal pyruvate dehydrogenase defi due to a R302H mutation in the PDHA1 gene: MRI fi //Pediatric Radiology. – 2008. – Т. 38. – С. 559-562.
13. Hu H. H. et al. Magnetic resonance imaging of obesity and metabolic disorders: Summary from the 2019 ISMRM Workshop // Magnetic resonance in medicine. – 2020. – Т. 83. – №. 5. – С. 1565-1576.
14. Moroni I. et al. Cerebral white matter involvement in children with mitochondrial encephalopathies //Neuropediatrics. – 2002. – Т. 33. – №. 02. – С. 79-85.]
15. Singh A., Salehi S. S. M., Gholipour A. Deep predictive motion tracking in magnetic resonance imaging: application to fetal imaging //IEEE transactions on medical imaging. – 2020. – Т. 39. – №. 11. – С. 3523-3534.
16. Leyendecker J. R., Gorengaut V., Brown J. J. MR imaging of maternal diseases of the abdomen and pelvis during pregnancy and the immediate postpartum period //Radiographics. – 2004. – Т. 24. – №. 5. – С. 1301-1316.
17. Ertl-Wagner B. et al. Fetal magnetic resonance imaging: indications, technique, anatomical considerations and a review of fetal abnormalities //European radiology. – 2002. – Т. 12. – №. 8. – С. 1931-1940.
18. Chaksuwat P. et al. A comparison of pregnancy outcomes after second-trimester amniocentesis between cases with penetration of the placenta and nonpenetration //The Journal of Maternal-Fetal & Neonatal Medicine. – 2021. – Т. 34. – №. 23. – С. 3883-3888.
19. Alfi Z., Navaratnam K., Mujezinovic F. Amniocentesis and chorionic villus sampling for prenatal diagnosis //Cochrane Database of Systematic Reviews. – 2017. – №. 9.
20. Monni G. et al. The decline of amniocentesis and the increase of chorionic villus sampling in modern perinatal medicine //Journal of Perinatal Medicine. – 2020. – Т. 48. – №. 4. – С. 307-312.
21. Toufaily M. H. et al. Causes of congenital malformations //Birth defects research. – 2018. – Т. 110. – №. 2. – С. 87-91.
22. Corsello G., Giuff M. Congenital malformations //The Journal of Maternal-Fetal & Neonatal Medicine. – 2012. – Т. 25. – №. sup1. – С. 25-29.
23. Liu Y. et al. Global prevalence of congenital heart disease in school-age children: a meta-analysis and systematic review //BMC cardiovascular disorders. – 2020. – Т. 20. – С. 1-10.
24. Milani H. J. F. et al. Ultrasonographic evaluation of the fetal central nervous system: review of guidelines //Radiologia brasileira. – 2019. – Т. 52. – С. 176-181.
25. Imbard A., Benoist J. F., Blom H. J. Neural tube defects, folic acid and methylation //International journal of environmental research and public health. – 2013. – Т. 10. – №. 9. – С. 4352-4389.
26. Malinger G. et al. Ultrasonography of the prenatal brain.(3rd edn). Timor-Tritsch IE, Monteagudo A, Pilu G, Malinger G. – 2012.
27. Merguerian P. A., Rowe C. K. Developmental abnormalities of the genitourinary system //Avery's Diseases of the Newborn. – Elsevier, 2018. – С. 1260-1273. e4.
28. Pope J. C. 4th, Brock JW, 3rd, Adams MC, Stephens FD, Ichikawa I. How they begin and how they end: classic and new theories for the development and deterioration of congenital anomalies of the kidney and urinary tract, CAKUT //J Am Soc Nephrol. – 1999. – Т. 10. – №. 9. – С. 2018-28.
29. Ichikawa I. et al. Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT //Kidney international. – 2002. – Т. 61. – №. 3. – С. 889-898.
30. Tokarska K. et al. Guidelines for treatment of esophageal atresia in the light of most recent publications //Polish Journal of Surgery. – 2022. – Т. 95. – №. 1. – С. 46-52.
31. Tonni G. et al. Clinical presentations and diagnostic imaging of vacterl association //Fetal and Pediatric Pathology. – 2023. – Т. 42. – №. 4. – С. 651-674.
32. van De Putte R. et al. Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study //Pediatric research. – 2020. – Т. 87. – №. 3. – С. 541-549.
33. Brzački V. et al. Congenital esophageal stenosis: a rare malformation of the foregut //Nagoya journal of medical science. – 2019. – Т. 81. – №. 4. – С. 535.
34. Oo A. M. Esophageal Cysts //Mastering Endo-Laparoscopic and Thoracoscopic Surgery: ELSA Manual. – Singapore : Springer Nature Singapore, 2022. – С. 237-241.
35. Lavryk A. S. et al. Gastric duplication cyst //The Ukrainian Journal of Clinical Surgery. – 2021. – Т. 88. – №. 9-10. – С. 99-101.
36. Shah J. et al. Gastric diverticulum: a comprehensive review //Infl intestinal diseases. – 2019. – Т. 3. – №. 4. – С. 161-166.
37. Miscia M. E. et al. Duodenal atresia and associated intestinal atresia: a cohort study and review of the literature //Pediatric Surgery International. – 2019. – Т. 35. – С. 151-157.
38. Lindeman R. J., Søreide K. The many faces of Meckel’s diverticulum: update on management in incidental and symptomatic patients //Current gastroenterology reports. – 2020. – Т. 22. – С. 1-8.
39. Puri P., Nakamura H. Epidemiology and clinical characteristics of Hirschsprung’s disease //Hirschsprung's Disease and Allied Disorders. – 2019. – С. 167-174.
40. Miyake Y., Lane G. J., Yamataka A. Embryology and anatomy of anorectal malformations //Seminars in Pediatric Surgery. – WB Saunders, 2022. – Т. 31. – №. 6. – С. 151226.
41. Kagan K. O., Sonek J., Kozlowski P. Antenatal screening for chromosomal abnormalities //Archives of gynecology and obstetrics. – 2022. – Т. 305. – №. 4. – С. 825-835.
42. Cuckle H., Morris J. Maternal age in the epidemiology of common autosomal trisomies //Prenatal diagnosis. – 2021. – Т. 41. – №. 5. – С. 573-583.
43. [Schierbaum L. M. et al. Genome-wide survey for microdeletions or-duplications in 155 patients with lower urinary tract obstructions (LUTO) //Genes. – 2021. – Т. 12. – №. 9. – С. 1449.
44. Berglund A., Stochholm K., Gravholt C. H. The epidemiology of sex chromosome abnormalities //American Journal of Medical Genetics Part C: Seminars in Medical Genetics. – Hoboken, USA : John Wiley & Sons, Inc., 2020. – Т. 184. – №. 2. – С. 202-215.
45. Bronshtein M. et al. First-trimester and early second-trimester diagnosis of nuchal cystic hygroma by transvaginal sonography: diverse prognosis of the septated from the nonseptated lesion //American journal of obstetrics and gynecology. – 1989. – Т. 161. – №. 1. – С. 78-82.
46. Cuckle H. S., Nanchahal K., Wald N. Birth prevalence of Down's syndrome in England and Wales //Prenatal diagnosis. – 1991. – Т. 11. – №. 1. – С. 29-34.
47. Merkatz I. R. et al. An association between low maternal serum α-fetoprotein and fetal chromosomal abnormalities //American journal of obstetrics and gynecology. – 1984. – Т. 148. – №. 7. – С. 886-894.
48. Sherer D. M. et al. Noninvasive First-Trimester Screening for Fetal Aneuploidy //Obstetrical & Gynecological Survey. – 1999. – Т. 54. – №. 11. – С. 42-48.
49. Malone F. D. et al. First-trimester nasal bone evaluation for aneuploidy in the general population //Obstetrics & Gynecology. – 2004. – Т. 104. – №. 6. – С. 1222-1228.
50. Cicero S. et al. Absence of nasal bone in fetuses with trisomy 21 at 11–14 weeks of gestation: an observational study //The lancet. – 2001. – Т. 358. – №. 9294. – С. 1665-1667.
51. Matias A. et al. Screening for chromosomal abnormalities at 10–14 weeks: the role of ductus venosus blood flow //Ultrasound in Obstetrics and Gynecology: The Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology. – 1998. – Т. 12. – №. 6. – С. 380-384.
52. Rasiah S. V. et al. A systematic review of the accuracy of first‐trimester ultrasound examination for detecting major congenital heart disease //Ultrasound in Obstetrics and Gynecology: The Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology. – 2006. – Т. 28. – №. 1. – С. 110-116.
53. Jeve Y. et al. Accuracy of f first‐trimester ultrasound in the diagnosis of early embryonic demise: a systematic review //Ultrasound in obstetrics & gynecology. – 2011. – Т. 38. – №. 5. – С. 489-496.
54. Karim J. N. et al. Systematic review of first‐trimester ultrasound screening for detection of fetal structural anomalies and factors that affect screening performance //Ultrasound in Obstetrics & Gynecology. – 2017. – Т. 50. – №. 4. – С. 429-441.
55. Spampinato M. D. et al. Diagnostic accuracy of Point Of Care UltraSound (POCUS) in clinical practice: A retrospective, emergency department based study //Journal of Clinical Ultrasound. – 2024. – Т. 52. – №. 3. – С. 255-264.
56. Rayburn W. F., Jolley J. A., Simpson L. L. Advances in ultrasound imaging for congenital malformations during early gestation // Birth Defects Research Part A: Clinical and Molecular Teratology. – 2015. – Т. 103. – №. 4. – С. 260-268.
57. Christensen- Jeffries K. et al. Super-resolution ultrasound imaging //Ultrasound in medicine & biology. – 2020. – Т. 46. – №. 4. – С. 865-891.
58. Kvåle Løvmo M. et al. Ultrasound-induced reorientation for multi-angle optical coherence tomography //Nature Communications. – 2024. – Т. 15. – №. 1. – С. 2391.
59. Toprak U. et al. Diagnostic accuracy of ultrasound in subscapularis tendon abnormalities and the importance of operator experience //Acta orthopaedica et traumatologica turcica. – 2020. – Т. 54. – №. 4. – С. 423.
60. Pugash D. et al. Prenatal ultrasound and fetal MRI: the comparative value of each modality in prenatal diagnosis //European journal of radiology. – 2008. – Т. 68. – №. 2. – С. 214-226.
61. Ioannou C. et al. Systematic review of methodology used in ultrasound studies aimed at creating charts of fetal size // BJOG: An International Journal of Obstetrics & Gynaecology. – 2012. – Т. 119. – №. 12. – С. 1425-1439.
62. Kuc R. Estimating acoustic attenuation from reflected ultrasound signals: Comparison // IEEE transactions on acoustics, speech, and signal processing. – 1984. – Т. 32. – №. 1. – С. 1-6.
63. Buca D. et al. Outcome of fetuses with congenital cytomegalovirus infection and normal ultrasound at diagnosis: systematic review and meta‐analysis //Ultrasound in Obstetrics & Gynecology. – 2021. – Т. 57. – №. 4. – С. 551-559.
64. Carbone L. et al. Non-invasive prenatal testing: current perspectives and future challenges //Genes. – 2020. – Т. 12. – №. 1. – С. 15.
Рецензия
Для цитирования:
Мозер А.И., Пак Э.И., Магаз Н.А. Перспективы и ограничения ультразвуковой диагностики врожденных пороков развития плода в первом триместре беременности. Обзор. Непрерывное медицинское образование и наука. 2024;19(3):25-32.
For citation:
Mozer A.I., Pak E.I., Magaz N.A. Prospects and limitations of ultrasound diagnostics of congenital developmental defects of the fetus in the first trimester of pregnancy. A review. Title in english. 2024;19(3):25-32. (In Russ.)