Lymphatic vessel hypoplasia in fetuses with Turner syndrome

• Published in: Human reproduction (Oxford) Vol. 14; no. 3; pp. 823 - 826
• Main Authors: von Kaisenberg, C.S., Nicolaides, K.H., Brand-Saberi, B.
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01-03-1999; Oxford Publishing Limited (England)
• Subjects: Biological and medical sciences; Chromosome aberrations; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 18; Down Syndrome - pathology; Female; Fetal Diseases - pathology; Humans; Immunohistochemistry; Laminin - analysis; Lymphatic System - embryology; Lymphatic System - pathology; Medical genetics; Medical sciences; Neck - diagnostic imaging; Pregnancy; Skin - embryology; Skin - pathology; Trisomy; Turner Syndrome - diagnostic imaging; Turner Syndrome - pathology; Ultrasonography, Prenatal; lymphatic vessels; trisomies 21, 18 and 13; nuchal translucency; Turner syndrome; 5′nucleotidase; Chromosomal aberration; Human; Hypoplasia; Immunohistochemistry; Dysgenesia; Trisomy; Aneuploidy; Female genital diseases; Nucal cell; Malformation; Gonad; Fetus; Skin; Lymphatic capillary
• ISSN: 0268-1161; 1460-2350; 1460-2350
• DOI: 10.1093/humrep/14.3.823

Turner syndrome is associated with subcutaneous accumulation of fluid in the neck region that can be visualized sonographically from 10–14 weeks of gestation as massively increased nuchal translucency thickness. Possible mechanisms for this increased translucency include dilatation of the jugular lymphatic sacs because of developmental delay in the connection with the venous system, or a primary abnormal dilatation or proliferation of the lymphatic channels interfering with a normal flow between the lymphatic and venous systems. The aim of this study was to investigate the distribution of lymphatic vessels in nuchal skin tissue from fetuses with Turner syndrome compared with fetuses carrying trisomies 21, 18 and 13 and chromosomally normal controls. The distribution of vessels was examined by immunohistochemistry using a monoclonal antibody, PTN63, against 5′nucleotidase and an anti-laminin antibody. In normal control fetuses (n = 6) and those with trisomies 21 (n = 3), 18 (n = 2) and 13 (n = 2), PTN63-positive and laminin-positive vessels were evenly distributed throughout the dermis and subcutis. In Turner syndrome (n = 3), there was a chain of large vessels that stained with both PTN63 and laminin at the border between dermis and subcutis, but there was scarcity of vessels in the upper dermis and the subcutis. Using PTN63 alone, there were no positive vessels in the upper dermis. We conclude that in Turner syndrome lymphatic vessels in the upper dermis are hypoplastic.