title: Cystic hygroma: comparison between prenatal and postnatal diagnosis.
abstract: Antenatal diagnosis of congenital malformation often leads to opportunities for intervention in the pregnancy that may have a profound effect on the outcome of the fetus. The accuracy of the diagnostic technique is a critical factor in judging the appropriateness of such interventions. This article reports the current accuracy of prenatal ultrasound diagnosis of cystic hygroma (CH) in a region with a population of 3.5 million and an annual birth rate of 52,000. During a 32-month period (to December 1994), 113 diagnoses of CH were reported to the South East Thames Regional Congenital Malformation Registry. Eighty-nine diagnoses were made prenatally and 24 were made postnatally (at delivery or postmortem). The number of confirmed cases of CH was 52 (46% total diagnoses). The prenatal diagnoses were established at a mean gestational age of 19 weeks. Fifty-six (63%) pregnancies with a prenatal diagnosis of fetal CH were terminated; in only 25% of these was the presence of CH confirmed after termination. Overall, of the 89 prenatal diagnoses, 28 (32%) were confirmed, 45 (50%) were incorrect, and 16 (18%) could not be confirmed or refuted. Only 24% of fetuses with a prenatal diagnosis of CH were live born. The survival rate at 1 year for the live-born infants with CH in this series was 88%. The diagnosis of fetal CH has a recognised association with chromosomal abnormalities, and consequently may lead to termination of the pregnancy. A potential error rate of almost 70% in the prenatal ultrasound diagnosis of this condition requires clinicians to adopt a more cautious approach to the management of the fetus with "cystic hygroma."
authors.affiliation: South East Thames Congenital Malformation Registry, Children's Hospital, Lewisham, London, England.
authors.forename: R
authors.initials: R
authors.lastname: Fisher
authors.forename: A
authors.initials: A
authors.lastname: Partington
authors.forename: E
authors.initials: E
authors.lastname: Dykes
mesh_terms: D000025:Abortion, Eugenic; D003951:Diagnostic Errors; D004739:England / Q000453:epidemiology; D005260:Female; D005500:Follow-Up Studies; D005865:Gestational Age; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D018191:Lymphangioma, Cystic / Q000000981:diagnostic imaging* / Q000235:genetics / Q000401:mortality; D008297:Male; D011247:Pregnancy; D012680:Sensitivity and Specificity; D015996:Survival Rate; D016216:Ultrasonography, Prenatal