Etiology, prognosis and management of nuchal cystic hygroma: 25 new cases and literature review

European Journal of Obstetrics, Gynecology, and Reproductive Biology
P DescampsG Body

Abstract

To develop an algorithm for the prenatal management of patients when a cystic hygroma is diagnosed by ultrasonography. We report a personal series of 25 cases diagnosed between 10 and 23 weeks gestation and a review of the literature comprising a total of 999 cases. We focused on the etiologies and the value of various prognostic factors in the management of cystic hygromas. These include karyotype, alpha-fetoprotein levels, sonographic findings in the fetus and within the hygroma itself, and natural history. According to the literature, fetal chromosomal abnormalities were associated with cystic hygromas in 62% of the cases. Turner's syndrome remains the most common (33%) but Down's syndrome, Trisomy 18 and Trisomy 13 are not rare (15, 7 and 2%). Others have Mendelian abnormalities. The prognosis remains gloomy. The literature reports that only 9% of cases result in healthy children with normal karyotypes. The remaining 91% are either terminated (89%) or liveborn (2%), but with chromosome abnormalities or various malformations. The prognostic factors associated with a poor outcome are an abnormal karyotype and associated structural malformations. Resolution of the hygroma by 20 weeks gestation suggests a good prognosis, but is...Continue Reading

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