[当前情况下二次侵入性产前诊断的价值]
[Value of second-time invasive prenatal diagnosis in the current circumstances].
作者信息
Wu Yi, Wang Yanlin, Cheng Weiwei, Yu Jingbo, Liu Chunmin
机构信息
Prenatal Diagnosis Center, International Peace Maternal and Child Health Hospital, Shanghai Jiao Tong University, Shanghai 200030, P.R. China. Email:
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Jun;31(3):376-9. doi: 10.3760/cma.j.issn.1003-9406.2014.03.026.
OBJECTIVE
To assess the safety of repeated invasive prenatal diagnosis primarily due to failed culture of amniotic cells.
METHODS
Between January 2000 and October 2012, 167 cases required repeated invasive prenatal diagnosis among a total of 5304 amniocentesis cases. Clinical outcome and karyotypes were analyzed to calculate the rate of fetal loss.
RESULTS
For the 167 re-sampled cases, the indications have included failed amniocyte culture (121 cases), chromosome mosaicisms (23 cases), failed amniocentesis (21 cases), and request for confirmation (2 cases). No fetal loss has occurred. All samples were cultured successfully. Fourteen cases (8.38%) have been found with an abnormal karyotype. Four mosaic trisomic cases (2 mosaic trisomy 16, 1 mosaic trisomy 20, and 1 mosaic trisomy 8) were verified to be normal.
CONCLUSION
Repeated invasive prenatal diagnosis does not increase the rate of fetal loss. It can be recommended to cases with failed amniocyte culture. Caution should be undertaken when counseling prenatally detected mosaicism trisomies.
目的
评估主要因羊水细胞培养失败而进行重复侵入性产前诊断的安全性。
方法
在2000年1月至2012年10月期间，5304例羊膜腔穿刺病例中有167例需要重复侵入性产前诊断。分析临床结局和核型以计算胎儿丢失率。
结果
对于167例重新采样的病例，指征包括羊水细胞培养失败（121例）、染色体嵌合体（23例）、羊膜腔穿刺失败（21例）和要求确认（2例）。未发生胎儿丢失。所有样本均成功培养。发现14例（8.38%）核型异常。4例嵌合三体病例（2例嵌合三体16、1例嵌合三体20和1例嵌合三体8）经证实为正常。
结论
重复侵入性产前诊断不会增加胎儿丢失率。对于羊水细胞培养失败的病例可以推荐采用。对产前检测到的嵌合三体进行咨询时应谨慎。
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