Cytogenetic evaluation of cystic hygroma associated with hydrops fetalis, oligohydramnios or intrauterine fetal death: the roles of amniocentesis, postmortem chorionic villus sampling and cystic hygroma paracentesis

Abstract

Amniocentesis is a better method for cytogenetic evaluation of fetal cystic hygroma associated with intrauterine fetal death than postmortem chorionic villus sampling and cystic hygroma paracentesis. However, in the case with a living hydropic fetus and oligohydramnios, cystic hygroma paracentesis appears to be a practical alternative for cytogenetic assessment.

Analysis of cystic hygroma, ascitic, and pleural fluids by conventional lymphocyte culture and fluorescentin situ hybridization

“…Failure to culture fluid from the cystic hygroma occurred in case 5, in which the fetus was dead. It has been previously hypothesized (Chen et al, 1996) that due to autolytic changes which occur rapidly in tissue cells after death, lymphocytes are more difficult to culture as opposed to amniocytes, which can obtain nutrients from the amniotic fluid and continue to survive longer. This was observed in the present study (case 5), where the amniotic fluid from one of the twins (both having undergone intrauterine death could be cultured, whereas the cystic hygroma fluid containing the lymphocytes could not.…”

Estimating the Population Burden of Lymphedema

“…2 When cases of congenital lymphedema cluster in families, an autosomal dominant pattern of transmission is most frequently described, such as in the lymphedema-distichiasis syndrome, 13 whereas Aage-naes' syndrome 14 represents an autosomal recessive expression of disease. In addition to specific gene mutations, Turner's syndrome [15][16][17][18][19] and trisomy 18 17 should be considered in this context. While genetically predetermined forms of the primary lymphedema are relatively frequently encountered, sporadic instances of primary disease are more common.…”

Familial nuchal cystic hygroma without fetal effects: Genetic counselling and further evidence for an autosomal recessive subtype

“…Nuchal cystic hygroma (NCH) is a congenital malformation in which distended fluid‐filled spaces develop typically in the region of the fetal neck at incidences of 1/6000 at birth and 1/750 among spontaneous abortions (Chen et al . 1996).…”

“…Nuchal cystic hygroma (NCH) is a congenital malformation in which distended fluid-filled spaces develop typically in the region of the fetal neck at incidences of 1/6000 at birth and 1/750 among spontaneous abortions (Chen et al 1996). Prenatal diagnosis by ultrasound is based on the demonstration of a bilateral, mostly symmetric, cystic structure located in the occipitocervical region with the lesion either septated by internal trabeculae (septated) or not (nonseptated).…”