PLACENTAL PATHOLOGY IN FETAL CHROMOSOME ABNORMALITIES


Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription or Fee Access

Abstract

The review presents the specific features of the structure of the placenta in the presence of fetal chromosome abnormalities (CA): its decreased volume, reduced vascularization, molar structure, mesenchymal dysplasia. It considers mechanisms in the pathogenesis of placental dysfunction and the possibilities of its Doppler ultrasound and morphological diagnosis. Decreased placental volume determined by three-dimensional ultrasound; low umbilical vascular pulsatility index (PI); umbilical cord aneurysm; and abnormal umbilical tortuosity are described as additional markers of fetal CA and congenital malformations. However, the accumulated bulk of observations and the absence of high-level evidence-based studies cannot accurately assess the diagnostic informative value of these changes. In our opinion, placental chromosome abnormalities should be studied to understand mechanisms for the development of placental dysfunction, including those due to chromosome imbalance.

Full Text

Restricted Access

About the authors

Nataliya Vital'evna ANDRONOVA

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: andronowa@mail.ru
young research collaborator, laboratory for reproductive genetics 117997, Russia, Moscow, Ac. Oparin str. 4

Nadezhda Vasil'evna ZARETSKAYA

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: znadezda@yandex.ru
candidate of medical science, senior research collaborator, laboratory for reproductive genetics 117997, Russia, Moscow, Ac. Oparin str. 4

Zulfia Sagdullaevna KHODZHAEVA

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: z_khodzhaeva@oparina4.ru
doctor of medical science, professor, chief research collaborator, department of prevention and treatment of pregnancy pathology 117997, Russia, Moscow, Ac. Oparin str. 4

Alexander Ivanovich SHCHEGOLEV

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: ashegolev@oparina4.ru
doctor of medical science, professor, head of 2nd department for pathological anatomy 117997, Russia, Moscow, Ac. Oparin str. 4

Natalya Vasil'evna KHRAMCHENKO

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: n_khramchenko@oparina4.ru
doctor of the department of X-ray diagnosis 117997, Russia, Moscow, Ac. Oparin str. 4

Sergey Mikhaylovich VOEVODIN

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: s_voevodin@oparina4.ru
doctor of medical science, head of the department for medical visualization 117997, Russia, Moscow, Ac. Oparin str. 4

References

  1. Kakigano A., Mimura K., Kanagawa T., Nakayama M., Kanayama T., Fujita S. et al. Imbalance of angiogenic factors and avascular edematous cystic villi in a trisomy 13 pregnancy: A case report. Placenta. 2013; 34(7): 628-30.
  2. Müngen E., Dundar O., Muhcu M., Haholu A., Tunca Y. Placental mesenchymal dysplasia associated with trisomy 13: sonographic findings. J. Clin. Ultrasound. 2008; 36(7): 454-6.
  3. Toutain J., Labeau-Gaüzere C., Barnetche T., Horovitz J., Saura R. Confined placental mosaicism and pregnancy outcome: a distinction needs to be made between types 2 and 3. Prenat. Diagn. 2010: 30(12-13): 1155-64.
  4. Toutain J., Horovitz J., Saura R. Comment on “Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome”. Prenat. Diagn. 2013: 33(3): 301-2.
  5. Robinson W.P., Penaherrera M.S., Jiang R., Avila L., Sloan J., McFadden D.E. et al. Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction. Prenat. Diagn. 2010; 30(1): 1-8.
  6. Chen C.P. Placental abnormalities and preeclampsia in trisomy 13 pregnancies. Taiwan J. Obstet. Gynecol. 2009; 48(1): 3-8.
  7. Arizawa M., Nakayama M. Pathological analysis of the placenta in trisomies 21, 18 and 13. Nippon Sanka Fujinka Gakkai Zasshi. 1992; 44: 9-13.
  8. Metzenbauer M., Hafner E., Schuchter K., Philipp K. First trimester placental volume as a marker for chromosomal anomalies: preliminary results from an unselected population. Ultrasound Obstet. Gynecol. 2002; 19: 240-2.
  9. Labbe S., Copin H., Choiset A., Girard S., Barbet J.P. The placenta and trisomies 13, 18, 21. J. Gynecol. Obstet. Biol. Reprod. (Paris). 1989; 18(8): 989-96.
  10. Jauniaux E., Hustin J. Chromosomally abnormal early ongoing pregnancies: correlation of ultrasound and placental histological findings. Hum. Pathol. 1998; 29: 1195-9.
  11. Malassiné A., Frendo J.L., Evain-Brion D. Trisomy 21- affected placentas highlight prerequisite factors for human trophoblast fusion and differentiation. Int. J. Dev. Biol. 2010; 54(2-3): 475-82.
  12. Malassiné A., Pidoux G., Gerbaud P., Frendo J.L., Evain-Brion D. Human trophoblast in trisomy 21: a model for cell-cell fusion dynamic investigation. Adv. Exp. Med. Biol. 2011; 714: 103-12.
  13. Yong P.J., McFadden D.E., Robinson W.P. Protein kinase profiling in miscarriage: implications for the pathogenesis of trisomic pregnancy. J. Obstet. Gynaecol. Can. 2012: 34(12):1141-8.
  14. Толмачева Е.Н., Кашеварова А.А., Скрябин Н.А., Лебедев И.Н. Эпигенетические эффекты трисомии 16 в плацентарных тканях человека. Молекулярная биология. 2013: 47(3): 423-32.
  15. Amiel A., Fejgin M.D., Liberman M., Sharon Y., Kidron D., Biron-Shental T. Senescence in amniocytes and placentas from trisomy 21 pregnancies. J. Matern. Fetal Neonatal Med. 2013: 26(11):1086-9.
  16. Sukenik-Halevy R., Biron-Shental T., Sharony R., Fejgin M.D., Amiel A. Telomeres in trisomy 21 amniocytes. Cytogenet. Genome Res. 2011;135(1):12-8.
  17. Hadi E., Sharony R., Goldberg-Bittman L., Biron-Shental T., Fejgin M., Amiel A. Telomere aggregates in trisomy 21 amniocytes. Cancer Genet. Cytogenet. 2009; 195: 23-6.
  18. Nagamatsu T., Kamei Y., Yamashita T., Fujii T., Kozuma S. Placental abnormalities detected by ultrasonography in a case of confined placental mosaicism for trisomy 2 with severe fetal growth restriction. J. Obstet. Gynaecol. Res. 2013 Sep 5. doi: 10.1111/jog.12145. Available at: http://www.ncbi.nlm. nih.gov/pubmed/?term=nagamatsu+t.
  19. Pasquini L., Tondi F., Pontello V., Filippeschi M. First trimester diagnosis of hypotriploidy (68,XX) with elevated fetal head to trunk volume ratio and small placental volume. Prenat. Diagn. 2010: 30(6): 589-90.
  20. Wegrzyn P., Faro C., Falcon O., Peralta C.F., Nicolaides K.H. Placental volume measured by three-dimensional ultrasound at 11 to 13 + 6 weeks of gestation: relation to chromosomal defects. Ultrasound Obstet. Gynecol. 2005; 26: 28-32.
  21. Rizzo G., Capponi A., Cavicchioni O., Vendola M., Arduini D. Placental vascularization measured by three-dimensional power Doppler ultrasound at 11 to 13 + 6 weeks’ gestation in normal and aneuploid fetuses. Ultrasound Obstet. Gynecol. 2007; 30: 259-62.
  22. Щеголев А.И., Дубова Е.А., Гус А.И., Костюков К.В. Единственная артерия пупочного канатика. Медицинская визуализация. 2011: 1: 75-82.
  23. Stevenson R.E., Hall J.G., eds. Human malformations and related anomalies. 2nd ed. New York: Oxford University Press; 2006. 1509 p.
  24. Зарецкая Н.В., Кириллова Е.А., Лукаш Е.Н., Никифорова О.К., Ляшко Е.С., Липман А.Д., Тимофеев С.А., Побединский Н.М. Ведение беременности при единственной артерии пуповины плода. Акушерство и гинекология. 2004; 4: 37-9.
  25. Щеголев А.И., Бурдули Г.М., Дубова Е.А., Павлов К.А. Патология пупочного канатика: Пособие для врачей. М.; 2011. 72 с. // Schegolev A.I., Burduli G.M., Dubova E.A., Pavlov K.A. Patologiya pupochnogo kanatika: Posobie dlya vrachey. M.; 2011. 72 s.
  26. Kondi-Pafiti A., Kleanthis K.C., Mavrigiannaki P., Iavazzo C., Bakalianou K., Hassiakos D. et al. Single umbilical artery: fetal and placental histopathological analysis of 24 cases. Clin. Exp. Obstet. Gynecol. 2011; 38(3): 214-6.
  27. Matheus M., Sala M.A. The importance of placental examination in newborns with single umbilical artery. Z. Geburtshilfe Perinatol. 1980; 184: 231-2.
  28. Abuhamad A.Z., Shajfer W., Mari G., Copel J.A., Hobbins J.C., Evans A.T. Single umbilical artery: does it matter which artery is missing? Am. J. Obstet. Gynecol. 1995: 173(3, Pt1): 728-32.
  29. Nyberg D.A., Mahony B.S., Luthy D. Single umbilical artery: Prenatal detection of concurrent anomalies. J. Ultrasound Med. 1991: 10: 247-53.
  30. Dane B., Dane C., Kiray M., Cetin A., Yayla M. Fetuses with single umbilical artery: analysis of 45 cases. Clin. Exp. Obstet. Gynecol. 2009; 36: 116-9.
  31. Leung A.K., Robson W.L. Single umbilical artery. A report of 159 cases. Am. J. Dis. Child. 1989; 143: 108-11.
  32. Pavlopoulos P.M., Konstantinidou A.E., Agapitos E., Christodoulou C.N., Davaris P. Association of single umbilical artery with congenital malformations of vascular etiology. Pediatr. Dev. Pathol. 1998; 1(6): 487-93.
  33. Павлов К.А., Дубова Е.А., Полянчикова О.Л., Щеголев А.И. Извитость пупочного канатика новорожденного. Акушерство и гинекология. 2011; 7-2: 78-83.
  34. Raio L., Ghezzi F., Cromi A., Cereda E., Passi A. Sonographic morphology and hyaluronan content of umbilical cords of healthy and Down syndrome fetuses in early gestation. Early Hum. Dev. 2004; 77(1-2): 1-12.
  35. Jauniaux E., Halder A., Partington C. A case of partial mole associated with trisomy 13. Ultrasound Obstet. Gynecol. 1998; 11: 62-4.
  36. Curtin W.M., Marcotte M.P., Myers L.L., Brost B.C. Trisomy 13 appearing as a mimic of a triploid partial mole. J. Ultrasound Med. 2001; 20: 1137-9.
  37. Has R., Ibrahimoglu L., Ergene H., Ermis H., Başaran S. Partial molar appearance of the placenta in trisomy 13. Fetal Diagn. Ther. 2002; 17(4): 205-8.
  38. H’mida D., Gribaa M., Yacoubi T., Chaieb A., Adala L., Elghezal H., Saad A. Placental mesenchymal dysplasia with beckwith-wiedemann syndrome fetus in the context of biparental and androgenic cell lines. Placenta. 2008; 29(5): 454-60.
  39. Ulker V., Aslan H., Gedikbasi A., Yararbas K., Yildirim G., Yavuz E. Placental mesenchymal dysplasia: a rare clinicopathologic entity confused with molar pregnancy. J. Obstet. Gynaecol. 2013; 33(3): 246-9.
  40. Павлов К.А., Дубова Е.А., Щеголев А.И. Мезенхимальная дисплазия плаценты. Акушерство и гинекология. 2010; 5: 15-20. // Pavlov K.A., Dubova E.A., Schegolev A.I. Mezenhimalnaya displaziya platsentyi. Akusherstvo i ginekologiya. 2010; 5: 15-20.
  41. Jauniaux E., Nicolaides K.H., Hustin J. Perinatal features associated with placental mesenchymal dysplasia. Placenta. 1997; 18: 701-6.
  42. Cohen M.C., Roper E.C., Sebire N.J., Stanek J., Anumba D.O.C. Placental mesenchymal dysplasia associated with fetal aneuploidy. Prenat. Diagn. 2005; 25: 187-92.
  43. Jebbink J., Wolters A., Fernando F., Afink G., van der Post J., Ris-Stalpers C. Molecular genetics of preeclampsia and HELLP syndrome - a review. Biochim. Biophys. Acta. 2012; 1822(12): 1960-9.
  44. Brandenburg H., Los F.J., In’t Veld P. Clinical significance of placenta-confined nonmosaic trisomy 16. Am. J. Obstet. Gynecol. 1996; 174(5): 1663-4.
  45. Kalousek D.K., Langlois S., Barrett I., Yam I., Wilson D.R., Howard-Peebles P.N. et al. Uniparental disomy for chromosome 16 in humans. Am. J. Hum. Genet. 1993; 52: 8-16.
  46. Yong P.J., Langlois S., von Dadelszen P., Robinson W. The association between preeclampsia and placental trisomy 16 mosaicism. Prenat. Diagn. 2006; 26: 956-61.

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

Copyright (c) 2014 Bionika Media

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies