Congenital lymphedema presenting with increased nuchal translucency at 13 weeks of gestation

@article{Souka2002CongenitalLP,
  title={Congenital lymphedema presenting with increased nuchal translucency at 13 weeks of gestation},
  author={Athena P. Souka and Elisabeth Krampl and Lieselot Geerts and Kypros H. Nicolaides},
  journal={Prenatal Diagnosis},
  year={2002},
  volume={22}
}
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. 
Primary Congenital Lymphedema Complicated by Hydrops Fetalis: A Case Report and Review of the Literature
TLDR
A 27-year-old primigravida with a family history of leg swelling throughout multiple generations was diagnosed early in the third trimester with hydrops fetalis and the infant expired at approximately 45 minutes of life.
Prenatal Sonographic Diagnosis of Milroy Congenital Lymphedema
TLDR
This work reports, to its knowledge, the fifth case of Milroy disease diagnosed prenatally by sonography and reviews the genetics and phenotype of the disorder.
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TLDR
It is concluded that lymphatic capillary hypoplasia might be responsible for nuchal cystic hygroma in Turner syndrome and the biological basis for increasednuchal translucency in trisomies may however be different.
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TLDR
If the fetus survives until midgestation, and if a targeted ultrasound at 20 to 22 weeks fails to reveal any abnormalities, the risk of an adverse perinatal outcome and postnatal developmental delay is not statistically increased.
MANAGEMENT OF THE FETUS WITH INCREASED AT NAPE TRANSLUCENCY
TLDR
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Cystic Hygroma: A Preliminary Genetic Study and a Short Review from the Literature.
TLDR
It is thought that a genetic test for the outcome of familial CH could be of enormous prognostic value and, similar to lymphedema, CH can be inherited in autosomal recessive and autosomal dominant manner, with the latter most likely associated with a better prognosis.
Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities.
  • K. Nicolaides
  • Medicine
    American journal of obstetrics and gynecology
  • 2004
TLDR
There is extensive evidence that effective screening for major chromosomal abnormalities can be provided in the first trimester of pregnancy, and care givers who perform first-trimester screening should be trained appropriately, and their results should be subjected to external quality assurance.
PALABRAS CLAVES: MARCADORES ULTRASONOGRÁFICOS, ANOMALÍAS CONGÉNITAS, RIESGO PRENATAL, DIAGNÓSTICO PRENATAL ULTRASONOGRÁFICO, EMBARAZO.
The topic of sonographic markers in the first trimester of pregnancy is reviewed, in order to provide an update. The predictive markers on the most frequent congenital anomalies are emphasized. It
First trimester screening for trisomy 18 by a combination of nuchal translucency thickness and epigenetic marker level
TLDR
A delay in screening for trisomy 18 until the second trimester means that decisions about invasive testing or therapeutic abortion of pregnancy must be deferred accordingly.
TITULO: Actualización en marcadores genéticos ultrasonográficos del 1º trimestre del embarazo. TITLE: Actualization regarding genetic sonographic markers in the 1º trimester
The topic of sonographic markers in the first trimester of pregnancy is reviewed, in order to provide an update. The predictive markers on the most frequent congenital anomalies are emphasized. It
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