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首页> 外文期刊>Journal of obstetrics and gynaecology: the journal of the Institute of Obstetrics and Gynaecology >Chorionic villus sampling for early prenatal diagnosis: Experience at a mainland Chinese hospital
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Chorionic villus sampling for early prenatal diagnosis: Experience at a mainland Chinese hospital

机译:绒毛膜绒毛取样用于早期产前诊断:在中国大陆医院的经验

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摘要

The aim of this study was to describe the experience of transabdominal chorionic villus sampling (CVS) at a mainland Chinese hospital. During a 7-year period, 1,172 pregnant women chose to have CVS for prenatal diagnosis. Details and outcome of all of these cases were reviewed. The median maternal age was 29 years (range 19-45). The median gestational age was 12 weeks (range 10-14). Fetal karyotyping and thalassaemia couples were the main indications (97.2%). Overall, 112 (9.7%) chromosomal abnormalities were identified. There were 91 (7.8%) major chromosomal abnormalities, including autosomal trisomy in 70 patients, sex chromosomal abnormalities in 17, triploidy in two and unbalanced chromosomal rearrangement abnormality in two. Additionally, 137 fetuses with severe thalassaemia syndrome were found, including 86 homozygous beta-thalassaemia, and 51 homozygous alpha-thalassaemia or non-deletional haemoglobin H disease. The procedure failed to obtain an adequate sample in four (0.3%) patients. There were 229 pregnancies terminated for medical indications after CVS. There were three (0.3%) potentially procedure-related fetal losses. CVS is a safe and reliable prenatal diagnostic technique. It should be one of the options available to pregnant women who require prenatal diagnosis.
机译:这项研究的目的是描述在中国大陆一家医院经腹绒毛膜绒毛取样(CVS)的经验。在7年中,1,172名孕妇选择了CVS进行产前诊断。所有这些案件的细节和结果进行了审查。产妇中位年龄为29岁(范围19-45)。中位胎龄为12周(范围10-14)。胎儿核型分型和地中海贫血夫妇是主要适应症(97.2%)。总体上,确定了112个(9.7%)染色体异常。主要染色体异常有91个(7.8%),其中常染色体三体性70例,性染色体异常17例,三倍体染色体异常2例,染色体重排不平衡异常2例。此外,发现了137例患有严重地中海贫血综合征的胎儿,包括86例纯合β地中海贫血和51例纯合α地中海贫血或非删除性血红蛋白H病。该程序未能在四名(0.3%)患者中获得足够的样本。 CVS后有229例因医学指征终止妊娠。有三例(0.3%)可能与手术相关的胎儿丢失。 CVS是一种安全可靠的产前诊断技术。它应该是需要产前诊断的孕妇的可用选择之一。

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