Prenatal diagnosis of Turner syndrome -: Report on 69 cases
Prenatal diagnosis of Turner syndrome -: Report on 69 cases
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DOI：
10.7863/jum.2006.25.6.711
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发表时间：
2006-06-01
影响因子：
2.3
通讯作者：
Papp, Zoltan
中科院分区：
文献类型：
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作者：
Papp, Csaba;Beke, Artur;Papp, Zoltan
Objective.本研究旨在探讨不同超声征象对妊娠早、中期胎儿特纳综合征的诊断价值。方法.在1990年至2004年期间，在22，150例胎儿核型分析中发现了69例特纳综合征。超声检查发现的先天性畸形进行了分析。结果在诊断的514例（2.3%; 514/22，150）染色体畸变中，发现69例Turner综合征病例（13.4%; 69/514）。24个胎儿具有45，X染色体核型（34.8%），45个胎儿为嵌合体（65.2%）。47例胎儿（68.1%; 47/69）在超声检查中表现出症状。很大比例的特纳综合征胎儿显示出早发型体征，可在妊娠早期检测到（29.8%;14/69）。最常见的超声表现为颈部水囊瘤（26.1%; 18/69）、胎儿水肿（11.6%; 8/69）、心脏缺陷（13%; 9/69）和颈部透明性增加（13%; 9/69）。在心脏缺陷中，主动脉缩窄是最常见的（占所有心脏缺陷的44.4%）。软标记的检出率也较高（23.2%; 16/69）。结论.严重的特纳综合征的诊断是可能的，在怀孕早期。在孕中期超声检查中寻找软标记物和广泛使用超声心动图可能会增加特纳综合征的检出率。
Objective. This study was conducted to evaluate the diagnostic value of different sonographic signs of fetuses with Turner syndrome in the first and second trimesters of pregnancy. Methods. Between 1990 and 2004, Turner syndrome was found in 69 of 22,150 fetal karyotypings. Congenital anomalies detected by sonography were analyzed. Results. Of the 514 (2.3%; 514/22,150) chromosome aberrations that were diagnosed, 69 Turner syndrome cases were found (13.4%; 69/514). Twenty-four fetuses had a 45,X karyotype (34.8%), and 45 fetuses were mosaic (65.2%). Forty-seven fetuses (68.1 %; 47/69) showed symptoms on sonography. A substantial proportion of fetuses with Turner syndrome showed early-onset signs that could be detected in the first trimester (29.8%;14/69). The most common findings with sonography were hygroma colli (26.1 %; 18/69), fetal hydrops (11.6%,8/69), cardiac defects (13%; 9/69), and increased nuchal translucency (13%; 9/69). Among heart defects, coarctation of the aorta was the most common (44.4% of all cardial defects). Soft markers were also detected with relatively high frequency (23.2%; 16/69). Conclusions. The diagnosis of severe Turner syndrome is possible in early pregnancy. A search for soft markers during second-trimester sonography and extensive use of echocardiography may increase the detection rate of Turner syndrome.