Laboratory Medicine ›› 2017, Vol. 32 ›› Issue (8): 730-732.DOI: 10.3969/j.issn.1673-8640.2017.08.016
• Orginal Article • Previous Articles Next Articles
Received:2016-12-28
Online:2017-08-30
Published:2017-09-01
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URL: https://www.shjyyx.com/EN/10.3969/j.issn.1673-8640.2017.08.016
| 核型 | 例数 | 产前诊断指征 |
|---|---|---|
| 21-三体综合征（47,XN,+21） | 7 | 高龄+胎儿十二指肠闭锁 高龄+胎儿先天性心脏病 胎儿颈项透明带增厚 胎儿颈项透明带增厚+左心室强光斑 产前筛查高风险+高龄+羊水多 产前筛查高风险 产前筛查高风险 |
| 18-三体综合征（47,XN,+18） | 3 | 产前筛查高风险+高龄 产前筛查高风险+胎儿多发畸形 产前筛查高风险+胎儿多发畸形 |
| 13-三体综合征(46,XX,+13) | 1 | 胎儿唇裂+足掌中凸+耳廓畸形 |
| 平衡易位[46,XX,t（4;11）] | 1 | 不良孕史 |
| 罗伯逊易位[45,XY,rob（13;14）] | 1 | 不良孕史 |
| 性染色体异常 | ||
| 47,XXX 45,X | 2 1 | 无创DNA提示X三体 胎儿全身水肿 |
| 其他结构异常 | ||
| 46,XY,add（3）（q29） | 1 | 不良孕史 |
| 46,XX,inv（9） | 1 | 不良孕史+高龄 |
| 46,XX.del（15）（q22-qter） | 1 | 不良孕史 |
| 核型 | 例数 | 产前诊断指征 |
|---|---|---|
| 21-三体综合征（47,XN,+21） | 7 | 高龄+胎儿十二指肠闭锁 高龄+胎儿先天性心脏病 胎儿颈项透明带增厚 胎儿颈项透明带增厚+左心室强光斑 产前筛查高风险+高龄+羊水多 产前筛查高风险 产前筛查高风险 |
| 18-三体综合征（47,XN,+18） | 3 | 产前筛查高风险+高龄 产前筛查高风险+胎儿多发畸形 产前筛查高风险+胎儿多发畸形 |
| 13-三体综合征(46,XX,+13) | 1 | 胎儿唇裂+足掌中凸+耳廓畸形 |
| 平衡易位[46,XX,t（4;11）] | 1 | 不良孕史 |
| 罗伯逊易位[45,XY,rob（13;14）] | 1 | 不良孕史 |
| 性染色体异常 | ||
| 47,XXX 45,X | 2 1 | 无创DNA提示X三体 胎儿全身水肿 |
| 其他结构异常 | ||
| 46,XY,add（3）（q29） | 1 | 不良孕史 |
| 46,XX,inv（9） | 1 | 不良孕史+高龄 |
| 46,XX.del（15）（q22-qter） | 1 | 不良孕史 |
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