P12.12: Prenatal diagnosis of Nonne‐Milroy lymphedema

• DOI: 10.1002/uog.14223
• Publication Date: 2014-09-14T10:17:56Z
• Authors: J. Cortejoso; M. Cosme; A. Gasalla; S. Gutiérrez; I. Cortiñas; C. Rodríguez
• Keywords: Cystic hygroma

Prenatally diagnosed rarely, congenital hereditary lymphedema type I or Nonne-Milroy (OMIM #153100) is one of the two principal types chronic lymphedema. Their estimated incidence around 1/6000. Inherited in a manner autosomal dominant with variable expressivity, main feature this syndrome firm edema lower extremities. Case report. Thirty-three year old woman, gravid 2 para 0, pregnant 21 weeks, without remarkable medical history, coming to our Center for realization second trimester ultrasound. The first ultrasound scan at 12 weeks documented normal NT and combined screening had low risk aneuploidies. fundamental finding prenatal diagnosis was an important on dorsum both feet, accompanied by thickened nuchal fold (12 mm) septae (cystic hygroma) bilateral pielectasia. Fetal karyotyping after amniocentesis (46,XY) molecular analysis showed mutation heterozygosity (p.Val876Ala) gene FLT4 (encoding VEGFR3), which not described bibliography consulted databases. A proper anamnesis emerges history father's family, cytogenetic study father, asymptomatic, found same mutation. Subsequent saw right pleural effusion small size, resolved spontaneously, long eyelashes. Maternal infections were discarded serology. After birth, it possible verify existence limbs double row eyelashes (distichiasis), gammagraphy, agenesis lymphatic vessels limbs. Discussion. As can be chylothorax, diagnosis, confirmed genetic study. discovery distichiasis, characteristic lymphedema-distichiasis syndrome, might indicate that attributable mutations more than gene.