- 作者：Jaime Siegrist Ridruejo ; jaimesiegrist@hotmail.com ; Coral Bravo Arribas ; Eugenia Antolí ; n Alvarado ; Juan Antonio de Leó ; n Luis ; Francisco Gá ; mez Aldarete ; Ricardo Pé ; rez Ferná ; ndez-Pacheco
- 关键词：Anomalí ; as esquelé ; ticas ; Osteocondrodisplasias ; Disostosis ; Diagnó ; stico prenatal ; Ecografí ; a
- 刊名：Diagn贸stico Prenatal
- 出版年：2011
- 期刊代码：pca115_21734127
- 类别：med
- 出版时间：January-March 2011
- 卷：22
- 期：1
- 页码：7-13
- 文件大小：899 K
Introduction
The incidence of disorders in the development of foetal bone and cartilage structures is low. Although ultrasound diagnosis is easy, especially in lethal skeletal dysplasias, to reach an aetiological diagnosis can be difficult. The aim of this study was to present the ultrasound findings and perinatal outcomes of skeletal malformations diagnosed in our centre.
Material and methods
A retrospective descriptive study of case series. Skeletal malformations prenatally diagnosed in the Foetal Medicine Unit at the Gregorio Mara帽贸n General University Hospital (HGUGM) Madrid between November 2004 and February 2010 were included. Cases were classified as axial or radial skeletal defects, including isolated defects, as well as generalised skeletal dysplasias. Gestational age at diagnosis, presence of associated congenital defects and perinatal outcome were recorded.
Results
A total of 56 cases were included during the study period. The mean gestational age at diagnosis was 23.7 weeks (range 11-36, standard deviation 7.25). Twenty-six (46.4%) occurred as an isolated malformation, 14 (25%) associated to other malformations, and 16 (28.6%) as a multiple malformation syndrome. Among the 29 (51.8%) cases in which a cytogenetic study was performed, 10 (34.5%) had a chromosomal abnormality. The diagnosis was a radial skeletal focal anomaly in 40 cases (71.4%); anomalies of the axial skeleton in 5 (8.9%); and osteochondrodysplasia in 14 (25%). A nosological diagnosis was established in only 11 cases. Neonatal survival was 61.1%(33/54).
Conclusions
Skeletal malformations are often associated with other congenital defects. Aetiological diagnosis may be extremely difficult and the rate of adverse perinatal outcomes is high.