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Nuchal translucency and lymphatic system maldevelopment

  • Carlo Bellini , Mariangela Rutigliani , Francesco M. Boccardo , Eugenio Bonioli , Corradino Campisi , Federica Grillo , Tommaso Bellini , Mario Valenzano and Ezio Fulcheri
Published/Copyright: July 10, 2009
Journal of Perinatal Medicine
From the journal Volume 37 Issue 6

Abstract

We describe the histological examination of 18 aborted fetuses that had increased nuchal translucency (NT) between 11+0 and 13+6 weeks' gestation. The aim of this study was to assess the corresponding NT anatomic features by immunohistochemical (IHC) investigation. A morphological study was performed using lymphatic and blood endothelial specific markers, as well as smooth muscle actin (SMA). We found that all 18 cases were D2-40 positive, CD31 positive, and CD34 negative, suggesting the presence of nuchal lymph vessel ectasia. We found that 12/18 cases were SMA staining positive and 6/18 cases were SMA negative, suggesting that 6/18 cases had nuchal cystic lymphangiectasia, whereas 12/18 had cystic hygromas. The present data seem to confirm the reasonable hypothesis that lymphangiogenesis plays a relevant role in nuchal edema, increased NT, and that increased NT is the result of a lymphatic malformation or a delayed development of the lymphatic system.

Keywords: Cystic hygroma; edema with nuchal cystic lymphangiectasia; nuchal translucency (NT)
Corresponding author: Carlo Bellini, MD, PhD Dipartimento di Pediatria Università di Genova Istituto G. Gaslini, Largo G. Gaslini 5 16147 Genova Italy Tel.: +39 10 5636762 Fax: +39 10 3770675
Received: 2009-2-17
Revised: 2009-4-30
Accepted: 2009-5-4
Published Online: 2009-07-10
Published Online: 2009-07-10
Published in Print: 2009-11-01

©2009 by Walter de Gruyter Berlin New York

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  2. Delivery mode for the extremely premature fetus: a statement of the prematurity working group of the World Association of Perinatal Medicine
  3. Review articles
  4. The infant incubator in the neonatal intensive care unit: unresolved issues and future developments
  5. Survival and major disability rate in infant born at 22–25 weeks of gestation
  6. Original articles – Obstetrics
  7. Gene expression profiling of maternal blood in early onset severe preeclampsia: identification of novel biomarkers
  8. Risk assessment for preeclampsia in women with gestational diabetes mellitus
  9. Maternal serum adiponectin multimers in patients with a small-for-gestational-age newborn
  10. Maternal serum adiponectin multimers in gestational diabetes
  11. The effect of maternal obesity on the course of labor
  12. Decreased placental oxygenation capacity in pre-eclampsia: clinical application of a novel index of placental function preformed at the time of delivery
  13. Utility of two-dimensional echocardiography in pregnancy and post-partum period and impact on management in an inner city hospital
  14. A new obstetrical polyurethane versus stainless steel forceps: a comparison of forces generated to the base of the fetal skull during simulated deliveries
  15. Original article – Fetus
  16. Nuchal translucency and lymphatic system maldevelopment
  17. Orginal articles – Newborn
  18. Indicators of compliance for developmental follow-up of infants discharged from a regional NICU
  19. Disparity in circulating adiponectin multimers between term and preterm infants
  20. Reduction of IGF-binding protein-3 as a potential marker of intra-uterine growth restriction
  21. The clinical outcomes of late preterm infants: a multi-center survey of Zhejiang, China
  22. Early enteral feeding in conservatively managed stage II necrotizing enterocolitis is associated with a reduced risk of catheter-related sepsis
  23. Short communications
  24. Serum proinflammatory cytokine – interleukin-8 as possible infection site marker in preterm deliveries
  25. Obstetric outcomes of low-risk labors at ‘Japanese tatami’ mat delivery room: a preliminary study
  26. Letters to the Editor
  27. Diagnosis and treatment of maternal acute myeloid leukemia during pregnancy imitating HELLP syndrome
  28. Vanishing nuchal translucency syndrome
  29. Congenital cataract with de novo balanced reciprocal t(3;13) (q23;q12) translocation in a newborn
  30. Breast feeding as human and divine nourishment
  31. Obituary
  32. Emile Papiernik will stay alive in our thoughts
  33. Congress Calendar
  34. Congress Calendar
  35. Index Volume 37 (2009)
  36. Index Volume 37 (2009) - Contents
  37. Index - Subjects
  38. Index - Subjects
  39. Index - Authors
  40. Index - Authors
  41. Acknowledgement
  42. Acknowledgement
https://doi.org/10.1515/JPM.2009.107
Keywords for this article
Cystic hygroma; edema with nuchal cystic lymphangiectasia; nuchal translucency (NT)

Articles in the same Issue

  1. Expert panel recommendation
  2. Delivery mode for the extremely premature fetus: a statement of the prematurity working group of the World Association of Perinatal Medicine
  3. Review articles
  4. The infant incubator in the neonatal intensive care unit: unresolved issues and future developments
  5. Survival and major disability rate in infant born at 22–25 weeks of gestation
  6. Original articles – Obstetrics
  7. Gene expression profiling of maternal blood in early onset severe preeclampsia: identification of novel biomarkers
  8. Risk assessment for preeclampsia in women with gestational diabetes mellitus
  9. Maternal serum adiponectin multimers in patients with a small-for-gestational-age newborn
  10. Maternal serum adiponectin multimers in gestational diabetes
  11. The effect of maternal obesity on the course of labor
  12. Decreased placental oxygenation capacity in pre-eclampsia: clinical application of a novel index of placental function preformed at the time of delivery
  13. Utility of two-dimensional echocardiography in pregnancy and post-partum period and impact on management in an inner city hospital
  14. A new obstetrical polyurethane versus stainless steel forceps: a comparison of forces generated to the base of the fetal skull during simulated deliveries
  15. Original article – Fetus
  16. Nuchal translucency and lymphatic system maldevelopment
  17. Orginal articles – Newborn
  18. Indicators of compliance for developmental follow-up of infants discharged from a regional NICU
  19. Disparity in circulating adiponectin multimers between term and preterm infants
  20. Reduction of IGF-binding protein-3 as a potential marker of intra-uterine growth restriction
  21. The clinical outcomes of late preterm infants: a multi-center survey of Zhejiang, China
  22. Early enteral feeding in conservatively managed stage II necrotizing enterocolitis is associated with a reduced risk of catheter-related sepsis
  23. Short communications
  24. Serum proinflammatory cytokine – interleukin-8 as possible infection site marker in preterm deliveries
  25. Obstetric outcomes of low-risk labors at ‘Japanese tatami’ mat delivery room: a preliminary study
  26. Letters to the Editor
  27. Diagnosis and treatment of maternal acute myeloid leukemia during pregnancy imitating HELLP syndrome
  28. Vanishing nuchal translucency syndrome
  29. Congenital cataract with de novo balanced reciprocal t(3;13) (q23;q12) translocation in a newborn
  30. Breast feeding as human and divine nourishment
  31. Obituary
  32. Emile Papiernik will stay alive in our thoughts
  33. Congress Calendar
  34. Congress Calendar
  35. Index Volume 37 (2009)
  36. Index Volume 37 (2009) - Contents
  37. Index - Subjects
  38. Index - Subjects
  39. Index - Authors
  40. Index - Authors
  41. Acknowledgement
  42. Acknowledgement
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