Wang Liqiong, Wang Xin, Zhang Shaoling, Zhou Zhongmin, Zhu Fufan, Ding Yiling
Department of Obstetrics and Gynecology, Central South University, Changsha, China.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2013 Apr;38(4):400-4. doi: 10.3969/j.issn.1672-7347.2013.04.011.
To evaluate the safety, effectiveness and complications of serial invasive prenatal diagnostic techniques, and to investigate the prenatal diagnosis indication as well as to analyze the abnormal chromosomal karyotype.
We retrospectively studied all patients from March 2005 to May 2012 who received amniocentesis and cordocentesis in the prenatal diagnosis center of Second Xiangya Hospital. The indication of the procedure, successful rate and complications were evaluated, and 25 abnormal chromosome nuclear types were analyzed.
A total of 669 patients received invasive prenatal diagnosis from March 2005 to May 2012 in Second Xiangya Hospital: 598 received amniocentesis and 71 cordocentesis carried out. Compared with the cordocentesis group, the amniocentesis group had higher achievement ratio (91.54% vs 100%, P<0.05), lower spontaneous abortion rate (1.41% vs 0.33%, P<0.05), fewer abnormal karyotypes (11.27% vs 2.84%, P<0.05) and lower expenditure (880 yuan vs 800 yuan, P<0.05). Positive screening, advanced maternal age, and ultrasonography abnormality were the top 3 indications of amniocentesis and cordocentesis. We found 25 abnormal karyotypes, including 6 cases of trisomy 21, 4 sex chromosomal abnormalities, 7 autosomal balanced translocations, 1 marker chromosome, and 7 mosaics.
As a widely used invasive prenatal diagnosis, amniocentesis is safe and effective. The complications of cordocentesis are much higher than those of amniocentesis, which is not a proper routine procedure for prenatal diagnosis of abnormal karyotype. The analysis of karyotype not only can identify fetal chromosome abnormality, but also provide the scientific basis for pregnancy continuation, thus reducing the ratio of birth defect.
评估系列侵入性产前诊断技术的安全性、有效性及并发症，探讨产前诊断指征并分析异常染色体核型。
回顾性研究2005年3月至2012年5月在中南大学湘雅二医院产前诊断中心接受羊水穿刺和脐血穿刺的所有患者。评估操作指征、成功率及并发症，并分析25例异常染色体核型。
2005年3月至2012年5月，中南大学湘雅二医院共有669例患者接受侵入性产前诊断，其中598例行羊水穿刺，71例行脐血穿刺。与脐血穿刺组相比，羊水穿刺组成功率更高（91.54%对100%，P<0.05），自然流产率更低（1.41%对0.33%，P<0.05），异常核型更少（11.27%对2.84%，P<0.05），费用更低（880元对800元，P<0.05）。血清学筛查阳性、孕妇年龄≥35岁、超声检查异常是羊水穿刺和脐血穿刺的前三位指征。共发现25例异常核型，包括21-三体综合征6例，性染色体异常4例，常染色体平衡易位7例，标记染色体1例，嵌合体7例。
作为广泛应用的侵入性产前诊断方法，羊水穿刺安全、有效。脐血穿刺并发症明显高于羊水穿刺，不宜作为产前诊断染色体异常的常规方法。核型分析不仅能诊断胎儿染色体异常，还可为继续妊娠提供科学依据，从而降低出生缺陷率。
