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骨骼发育异常的产前超声诊断——35例诊断及预后准确性报告

Prenatal sonographic diagnosis of skeletal dysplasias--a report of the diagnostic and prognostic accuracy in 35 cases.

作者信息

Gaffney G, Manning N, Boyd P A, Rai V, Gould S, Chamberlain P

机构信息

Prenatal Diagnosis and Ultrasound Unit, Women's Centre, Oxford Radcliffe Hospital, Headington, U.K.

出版信息

Prenat Diagn. 1998 Apr;18(4):357-62.

PMID:9602482
Abstract

Sonographic assessment of the skeleton is a routine part of fetal anomaly scanning. We report a series of 35 cases seen during a 7-year interval in which a skeletal dysplasia was suspected prenatally. In seven (20 per cent) of the 35 cases, a specific diagnosis could not be made either pre- or postnatally. Follow-up was incomplete in one case. In 32 (91 per cent) of the 35 cases, prenatal sonographic examination correctly predicted the prognosis, although in only 11 (31 per cent) of the 35 cases was the suggested prenatal diagnosis proven to be correct. The difficulty of making an accurate prenatal sonographic diagnosis in fetuses with suspected skeletal dysplasias throughout gestation, especially in the third trimester, and the importance of comprehensive multidisciplinary postnatal assessment in these cases are emphasized.

摘要

骨骼的超声评估是胎儿异常扫描的常规部分。我们报告了在7年期间所见的一系列35例病例,这些病例在产前被怀疑患有骨骼发育不良。在这35例病例中的7例(20%)中,产前或产后均无法做出明确诊断。1例随访不完整。在这35例病例中的32例(91%)中,产前超声检查正确预测了预后,尽管在这35例病例中只有11例(31%)所建议的产前诊断被证实是正确的。强调了在整个妊娠期对疑似骨骼发育不良胎儿进行准确产前超声诊断的困难,尤其是在孕晚期,以及这些病例中进行全面多学科产后评估的重要性。

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