Cystic hygroma simulating an encephalocele

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.

Unusual autosomal recessive lymphatic anomalies in two unrelated Amish families

“…None of these pregnancies resulted in a liveborn infant. Given that several of the cystic hygromas were mistakenly identified as encephaloceles on ultrasound, we agree with Nevin and Nevin [1983] that pathologic examination should be undertaken to confirm the diagnosis, as counseling for these two conditions is distinctly different.…”

Cystic hygromata in trisomy 18 and 21

“…Although several authors (Bieber et a!., 1979;Nicolini er a]., 1983;Nevin et a/., 1983) have published work illustrating the difficulty in distinguishing a cystic hygroma from an encephalocele by ultrasound examination we have successfully diagnosed 25 cases of cystic hygromata prenatally with no errors Pearce et al, 1983). In three cases the karyotype is as yet unknown but of the remainder 17 were associated with Turner's syndrome (all these fetuses also had hydrops fetalis).…”

Prenatal diagnosis of recurrence of cystic hygroma with normal chromosomes

“…In most instances, and in those cases associated with the 45,X Turner's syndrome, a low recurrence risk must be predicted. However, if a cytogenetic analysis of the fetus is not available or the fetus has a normal chromosome constitution, the possibility must be considered that the malformation is due to a Mendelian mutation, and the parents advised about the possibility of a high recurrence risk in future pregnancies (Nevin et al, 1983).…”