P14.77: Prenatal diagnosis of Nonne‐Milroy primary congenital lymphedema—a case report of 2 cases and review of the literature

Abstract

The first report of prenatal diagnosis of Nonne-Milroy lymphedema was documented in 2001 and up to date only 7 cases have been described including our two cases. We report on two consecutive pregnancies with increased nuchal skin fold with normal outcome. We will also review all the cases diagnosed in the antenatal period and the variable phenotypic expression of this condition. Increased nuchal translucency or nuchal skin fold with normal karyotype has been appropriately named a ''pain in the neck'' because it casts a shadow over a fetus's outcome and creates a lot of angst for the parents. Nonne-Milroy lymphedema is associated with both increased nuchal translucency and -skin fold and variable degrees of generalised edema with marked pedal edema. It has an autosomal dominant inheritance pattern and the prognosis is usually good. Our patient is a 31yrs G2P1 known to this unit in a previous pregnancy with increased nuchal skinfold with normal karyotype. That child is now 4 years and doing well with moderate pedal edema and Nonne-Milroy lympedema diagnosed. The patient presented to us in the second trimester of her subsequent pregnancy with an increased nuchal skinfold and mild hydrops (pleural effusions, ascites and scalp edema). The parents declined invasive testing in view of the known excellent prognosis. The pregnancy was uneventful with no additional findings during the pregnancy. Our case and the reviewed cases highlight that careful examination of a fetus and taking a family history can refine the diagnosis to allow for appropriate counselling. Nonne-Milroy lympedema is a single gene disorder with a known gene locus on the long arm of chromosome 5 and prenatal diagnosis can be offered to the parents if it supports the decision making process. It also emphasises the importance of keeping genetic samples for father testings since most patients will be offered an invasive test to assess the fetal karyotype. P14.78 Role of 3D ultrasound and fetal MRI in the antenatal follow-up of fetuses with cystic adenomatoïd malformation of the lung (CCAM)Three consecutive pregnancies in which a cystic (n = 1) or solid (n = 2) fetal lung mass were diagnosed and followed using the combination of 3D (Kretz Voluson 730) ultrasound and fetal MRI. Measurements of the lung mass and contralateral lung volume were obtained. Fetal MRI (HASTE) was used to differentiate the aetiology of the mass. Post-mortem (case 2) or postoperative (case 1 and 3) specimen of the lung lesions were studied histologically in all cases. In the first case, a cystic lesion was seen in the upper part of the left lung of a fetus at 26 weeks of gestation. Sonographically, a bronchogenic cyst or a small CCAM type I was suspected. 3-D ultrasound was performed at 28 weeks' gestation showing normal volume of both lungs, and MRI showed a solid component to the mass in relation to the cyst, suggesting a mixed solid-cystic CCAM. This was confirmed on postnatal pathology. In two other cases, patient presented with a large homogenous hyperechogenic mass in one of the...

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

“…Exome sequencing detected a heterozygous FLT4 (c.3075G > A p.(Met1025Ile)) mutation, known to cause autosomal dominant Milroy disease . Increased NT has been reported in a case of Milroy and FLT4 encodes vascular endothelial growth factor 3 which regulates development of the lymphatic structure. Lymphatic malformations have been postulated to cause increased NT .…”