SHORT COMMUNICATION Congenital lymphedema presenting with increased nuchal translucency at 13 weeks of gestation A. P. Souka, E. Krampl, L. Geerts and K. H. Nicolaides* Harris Birthright Research Centre for Fetal Medicine, King’s College Hospital, London, UK Congenital lymphedema is an autosomal dominant condition characterized by chronic tissue swelling caused by deficient lymphatic drainage due to hypoplastic/aplastic lymphatic vessels and usually affecting the lower limbs. The locus of the gene has been identified in the long arm of chromosome 15. We report one case of congenital lymphedema presenting with increased nuchal translucency at 13 weeks of gestation. Copyright # 2002 John Wiley & Sons, Ltd. KEY WORDS: congenital lymphedema; nuchal translucency INTRODUCTION Increased nuchal translucency (accumulation of fluid on the back of the fetal neck) in the first trimester and in particular between 11 and 14 weeks of gestation has been associated with chromosomal abnormalities, heart defects, structural abnormalities and genetic syndromes (Snidjers et al., 1998; Souka et al., 1998; Hyett et al., 1999). This paper reports on a case of congenital lymphedema of the lower limb presenting with increased nuchal translucency at 13 weeks of gestation. CASE REPORT A 36-year-old Caucasian woman was referred to the Harris Birthright Centre of Fetal Medicine because of increased nuchal translucency at her first trimester scan at her local hospital. She had one healthy child. The crown–rump–length and nuchal translucency were 79 mm and 4.3 mm, respectively (Figure 1). The estimated risk for Down’s syndrome, calculated by a combination of maternal age and fetal nuchal trans- lucency thickness, was 1 in 6 and the parents opted for chorionic villus sampling; cytogenetic analysis demon- strated a normal female karyotype. Ultrasound scans at 15 and 20 weeks showed resolution of the nuchal fluid and no obvious structural abnormalities. Fetal echocardiography showed a normally connected heart. An apparently healthy female infant was born at term. In the first few weeks after birth the parents noticed swelling of the left foot, below the ankle, and investigations confirmed congenital lymphedema. It is of interest that the father has congenital lymphedema affecting both lower limbs below the knees since childhood. DISCUSSION Lymphedema is a chronic tissue swelling caused by deficient lymphatic drainage due to hypoplastic/ aplastic lymphatic vessels, usually affecting the lower limbs. There are three clinical subtypes, congenital (Milroy disease, present at birth), praecox (pubertal onset) and tarda (midlife onset), with congenital lymphedema being the rarest and most severe of the three (Child et al., 1999). Lymphedema can be part of a syndrome such as Noonan syndrome, Turner syndrome and yellow nail syndrome. The oedema causes disfigurement and serious psychological pro- blems but also recurrent cellulitis, papillomatosis and *Correspondence to: K. Nicolaides, Harris Birthright Research Centre for Fetal Medicine, King’s College Hospital, Denmark Hill, London SE5 9RS, UK. Figure 1—Increased nuchal translucency in the 13-week fetus PRENATAL DIAGNOSIS Prenat Diagn 2002; 22: 91–92. DOI: 10.1002 / pd.104 Copyright # 2002 John Wiley & Sons, Ltd. Received: 7 November 2000 Revised: 9 February 2001 Accepted: 1 March 2001