Cystic hygroma simulating an encephalocele |
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Authors: | Professor Norman C. Nevin Jean Nevin William Thompson M. Denis O'hara |
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Affiliation: | 1. Department of Medical Genetics, The Queen's University of Belfast, Northern Ireland;2. Department of Midwifery and Gynaecology, The Queen's University of Belfast, Northern Ireland;3. Department of Pathology, The Queen's University of Belfast, Northern Ireland |
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Abstract: | An ultrasound examination at 17 weeks gestation on a woman with a family history of spina bifida suggested that the fetus had a closed encephalocele. Amniotic fluid alphafetoprotein, rapidly adhering cells and acetylcholinesterase gel electrophoresis were normal. The pregnancy was terminated and the fetus was found to have a large cystic hygroma. It is suggested that in counselling parents of an infant or fetus with a cystic hygroma and with a normal chromosome constitution, ultrasound examination in future pregnancies is advisable, because of the possibility of autosomal recessive inheritance. |
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Keywords: | Cystic hygroma Encephalocele Prenatal diagnosis |
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