Cystic hygroma simulating an encephalocele.
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.
D000328:Adult; D003937:Diagnosis, Differential; D004677:Encephalocele / Q000175:diagnosis*; D005260:Female; D006258:Head and Neck Neoplasms / Q000175:diagnosis*; D006801:Humans; D008202:Lymphangioma / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography