Fisher R, Partington A, Dykes E
South East Thames Congenital Malformation Registry, Children's Hospital, Lewisham, London, England.
J Pediatr Surg. 1996 Apr;31(4):473-6. doi: 10.1016/s0022-3468(96)90477-7.
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."
先天性畸形的产前诊断常常带来对妊娠进行干预的机会，这可能会对胎儿的结局产生深远影响。诊断技术的准确性是判断此类干预措施是否恰当的关键因素。本文报告了在一个拥有350万人口、年出生率为52000的地区，产前超声诊断囊状水瘤（CH）的当前准确性。在32个月期间（至1994年12月），东南泰晤士地区先天性畸形登记处共收到113例CH诊断报告。其中89例为产前诊断，24例为产后诊断（分娩时或尸检后）。确诊的CH病例有52例（占总诊断数的46%）。产前诊断时的平均孕周为19周。56例（63%）产前诊断为胎儿CH的妊娠被终止；其中只有25%在终止妊娠后证实存在CH。总体而言，在89例产前诊断中，28例（32%）得到证实，45例（50%）诊断错误，16例（18%）无法证实或证伪。产前诊断为CH 的胎儿中只有24%存活出生。该系列中存活出生的CH婴儿1岁时的存活率为88%。胎儿CH的诊断与染色体异常有明确关联，因此可能导致终止妊娠。这种疾病产前超声诊断的潜在错误率近70%，这就要求临床医生在处理“囊状水瘤”胎儿时采取更为谨慎的方法。
