FETAL NUCHAL EDEMA - ASSOCIATED MALFORMATIONS AND CHROMOSOMAL DEFECTS

被引:83
作者
NICOLAIDES, KH
AZAR, G
SNIJDERS, RJM
GOSDEN, CM
机构
[1] Harris Birthright Research Centre for Fetal Medicine, King’s College Hospital
[2] Medical Research Council, Human Genetics Unit, Edinburgh
关键词
FETAL NUCHAL EDEMA; PRENATAL DIAGNOSIS; ULTRASONOGRAPHY; FETAL KARYOTYPE; CORDOCENTESIS;
D O I
10.1159/000263659
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
During an 8-year Period, oedema in the dorsal cervical region that produces a characteristic tremor on ballotement of the fetal head (nuchal oedema) was observed in 145 (7%) of the 2,086 fetuses that underwent karyotyping in our unit because of fetal malformations and/or growth retardation. Nuchal oedema was distinguished from nuchal cystic hygromata and from hydrops foetalis. In 132 (91%) of the cases with nuchal oedema, there were other fetal malformations, and 53 (37%) fetuses had chromosomal abnormalities, mainly trisomy 21 but also other trisomies, deletions or translocations, triploidy and Turner syndrome. Furthermore, the chromosomally normal fetuses with nuchal oedema had a very poor prognosis because, in many cases, there was an underlying skeletal dysplasia, a genetic syndrome or cardiac defect.
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收藏
页码:123 / 131
页数:9
相关论文
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