Prognosis in Fetal Cystic Hygroma

EDITORIAL COMMENT : This paper was accepted for publication to inform readers of the current consensus regarding management when ultrasonography reveals fetal cystic hygroma. After counselling the parents, amniocentesis is performed to identify the high proportion of fetuses with an abnormal karyotype, assuming that the parents would opt for termination under this circumstance, and that the period of gestation renders this act an option. If the karyotype is normal, and there are no other malformations apparent, especially hydrops, then most would agree that treatment should be conservative. In many such cases the lesions will resolve spontaneously. Figure 1A illustrates a large cystic hygroma in a newborn male infant; the child was growth retarded (birth‐weight 2,970 g at 39.2 weeks' gestation) but otherwise normal. The tumour disappeared spontaneously when the infant was aged 6 months and due for operation! The child is now aged 18 years, lives in Queensland, and according to his father who is a psychiatrist, is ‘doing brilliantly’! There is also controversy regarding management when ultrasonography identifies fetal choroid plexus cysts. Although an abnormal karyotype was identified in 6.5% of fetuses (4 of 62) in one reported series (A) all 4 of these fetuses had other ultrasonographic abnormalities. This suggests that genetic counselling and cytogenetic studies are indicated only when the choroid plexus cyst, irrespective of size or bilaterality, is associated with additional abnormalities. In all other cases choriodplexus cysts can be expected to resolve, usually within 2–5 weeks. A. Piatt LD, Carlson DE, Medearis AL, Walla CA. Fetal choroid plexus cysts in the second trimester of pregnancy: A cause for concern. Am J Obstet Gynecol 1991; 164: 1652–1656. Summary Axillary and lateral cervical fetal cystic hygromas in a fetus with normal karyotype are described. Fetal death at 25 weeks' gestation occurred. A literature review revealed that for cystic hygroma 42% of infants are 45XO, 38% have a normal karyotype, and 18% have trisomies. Prognosis is grim if the karyotype is abnormal or if hydrops or bilateral pleural effusions are present. Survival rate progressively improves with normal karyotype (27%), unilateral pleural effusion (40%), atypical location (56%), and resolution of cystic hygroma (71%). No single feature signifies 100% survival. The overall survival rate for fetal cystic hygroma is 10%. Prognosis remains guarded regardless of all other factors until the fetus reaches 26 weeks' gestation, after which time a 67% chance of ultimate survival can be expected. Only 42% of documented survivors were completely normal at follow‐up.