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- W2001993921 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." @default.
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- W2001993921 date "2004-08-01" @default.
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- W2001993921 title "P14.77: Prenatal diagnosis of Nonne-Milroy primary congenital lymphedema-a case report of 2 cases and review of the literature" @default.
- W2001993921 doi "https://doi.org/10.1002/uog.1675" @default.
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