Pulmonary lymphangiomatosis as a cause of first trimester nuchal cysts in a euploid fetus

  1. Margarita Álvarez de la Rosa Rodríguez 1
  2. Elsa C. Estévez 1
  3. Candelaria García Castro 1
  4. Ana I. Padilla Pérez 1
  5. Juan M. Troyano Luque 1
  1. 1 Universidad de La Laguna
    info

    Universidad de La Laguna

    San Cristobal de La Laguna, España

    ROR https://ror.org/01r9z8p25

Revista:
Case Reports in Perinatal Medicine

ISSN: 2192-8959,  2192-8932

Año de publicación: 2013

Volumen: 2

Número: 1-2

Tipo: Artículo

DOI: 10.1515/CRPM-2012-0059 GOOGLE SCHOLAR

Otras publicaciones en: Case Reports in Perinatal Medicine

Resumen

Increased nuchal and perinuchal translucency in euploid fetuses can be due to a wide range of congenital malformations, metabolopathies or syndromes. We present a case of transient increased perinuchal fluid accumulation in a euploid female fetus that showed no anomalies in the morphological ultrasound scan on the 20th week of gestation. The lymphatic fluid accumulation resolved spontaneously but hydrothorax developed at week 29 of pregnancy. The hydrops recurred despite the placement of a pleuro-amniotic shunt, and the gestation ended in premature delivery and early neonatal death due to massive hydrops. Necropsy revealed pulmonary lymphangiomatosis. This disease had not been previously related to increased perinuchal translucency in a euploid fetus.

Referencias bibliográficas

  • Elejalde BR, de Elejalde MM, Leno J. Nuchal cysts syndromes: etiology, pathogenesis, and prenatal diagnosis. Am J Med Genet. 1985;21:417–32.
  • Fryns JP, Moerman P. Trisomy 21 in a second trimester male hydropic fetus with “Noonan-syndrome-phenotype”: nuchal and thoracic lymphangiomatosis, oedema of the dorsum of hands and feet, and bicuspid pulmonary valve. Genet Couns. 1998;9:59–60.
  • NICE. Insertion of pleuro-amniotic shunt for fetal pleural effusion. 2006; 190: Available from http://www.nice.org.uk/IPG190. Accessed on August 10, 2012.
  • Nicolaides K, Falcon O. La ecografía de las 11–13+6 semanas. Londres 2004. http://www.fetalmedicine.com/fmf/online-education/01-11-136-week-scan/. Accessed on August 10, 2012
  • Nicolaides KH, Azar G, Byrne D, Mansur C, Marks K. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. BMJ. 1992;304:867–89.
  • Senat MV, Bussieres L, Couderc S, Roume J, Rozenberg P, Bouyer J, et al. Long-term outcome of children born after a first-trimester measurement of nuchal translucency at the 99th percentile or greater with normal karyotype: a prospective study. Am J Obstet Gynecol. 2007;196:53 e1–6.
  • Szabó J, Gellén J. Nuchal fluid accumulation in trisomy-21 detected by vaginosonography in first trimester. Lancet 1990;336:1133.
  • Walker WP, Landas SK. Nuchal cystic hygroma associated with massive lymphangiomatosis of the upper extremity and myocardium in a stillborn fetus: a case report. Am J Cardiovasc Pathol. 1990;3:341–6.