早孕期经腹绒毛活检在产前诊断胎儿出生缺陷中的应用  

Chorionic villus sampling for prenatal diagnosis of fetal abnomalities in the first trimester of pregnancy

作　　者：林洋洋[1] 谢润桂[1] 张晓燕[1] 李玉娟[1] 徐婉芳[1] 何怡[1] 蔡婉芳 刘彦慧[1] 

机构地区：[1]广东省东莞市妇幼保健院产前诊断中心,广东东莞523120

出　　处：《中国优生与遗传杂志》2016年第2期55-57,共3页Chinese Journal of Birth Health & Heredity

基　　金：广东省医学科学技术研究基金(项目编号A2014861);东莞市重点资助项目(项目编号2013108101019)

摘　　要：目的探讨早孕期经腹绒毛活检在产前诊断出生缺陷胎儿中的应用价值。方法收集、分析早孕期185例高危孕妇经腹绒毛活检的指征及染色体核型分析,地贫基因诊断结果资料。结果穿刺成功率99.5%(1例后壁胎盘穿刺失败),染色体核型检查细胞培养成功183例,失败2例,成功率98.9%。术后并发症,1例胎儿颈项透明层(NT)增厚胎儿术后死胎(核型为21-三体),流产率0.54%。绒毛活检指征中为胎儿淋巴水囊瘤、NT增厚、高龄妊娠、早孕期血清学筛查高风险、超声结构异常、夫妻双方地中海贫血。染色体异常检出率最高的指征为胎儿颈部淋巴水囊瘤,其次为超声结构异常,NT增厚。24例染色体异常胎儿,其中非整倍体22例,染色体结构异常2例。68例夫妻双方同型地贫基因携带孕妇检测出重型α或β地中海贫血胎8例。结论绒毛活检用于早孕期产前诊断出生缺陷胎儿有重要价值,尤其结合早孕期筛查超声为早筛查早诊断胎儿严重遗传性疾病提供重要的方法。为临床遗传咨询提供重要的依据。Objective： To discuss the value of Chorionic villus sampling （CVS） in early diagnosis of fetal abnormalities. Methods： Analysis the prenatal diagnosis data about 185 pregnant women with the indications. Results： The success rate of CVS is 99.5% （184/185） .The success rate of cell culture is 98.9% （183/185） .The rate of abortion after CVS is 0.54% （1/185） , the fetal karyotype is trisomy 21.Indications of the pregnant women include： Fetal lymphatic hygroma, NT thickening, older pregnancy, First trimester screening high-risk, ultrasound screening abnormalities, both of the couples are the same α or βthalassemia gene carrier. 24 cases of chromosomal abnormalities fetus, including 22 cases for anenploidy and abnormal chromosome structure in 2 cases.5 fetuses with severe α-thalassemia and 3 fetuses with β-thalassemia were identified. Conclusion： Abdominal chorionic villus sampling in early pregnancy is a safe and effective method.It is of great value for early prenatal diagnosis.

关 键 词：早孕期 产前诊断 经腹绒毛活检 染色体异常 地中海贫血 

分 类 号：R714.55[医药卫生—妇产科学]