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Cystic hygroma simulating an encephalocele
Prenatal Diagnosis
|July 1, 1983
Summary
A cystic hygroma was found in a fetus initially suspected of having spina bifida. Normal genetic tests suggest a possible autosomal recessive inheritance, advising future ultrasounds for parents.
Area of Science:
- Prenatal diagnosis
- Medical genetics
- Fetal abnormalities
Background:
- A family history of spina bifida prompted a prenatal ultrasound at 17 weeks gestation.
- Initial ultrasound findings suggested a closed encephalocele in the fetus.
Observation:
- Amniotic fluid alphafetoprotein, rapidly adhering cells, and acetylcholinesterase gel electrophoresis results were all within normal limits.
- The pregnancy was terminated, and a post-termination examination revealed a large cystic hygroma.
Findings:
- The fetus presented with a large cystic hygroma, not the initially suspected encephalocele.
- Standard prenatal screening tests for neural tube defects were normal.
Implications:
- For parents with a fetus diagnosed with cystic hygroma and normal chromosomes, future pregnancies may warrant genetic counseling.
- The possibility of autosomal recessive inheritance should be considered, recommending further ultrasound examinations in subsequent pregnancies.