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目的超声引导经腹穿刺脐静脉取胎血对胎儿先天性心脏病(先心病)及其他心脏异常行染色体核型分析。方法对56例经胎儿超声心动图检出心脏异常胎儿在超声引导下,经腹脐静脉穿刺取血行染色体检查。结果56例均成功取血,无明显并发症,其中54例细胞培养成功。检出染色体异常核型6例(占11.1%),正常核型48例(占88.9%);6例异常核型中1例21-三体,2例18三体,1例13-三体,1例47XYY(超雄)综合征,1例XO(先天性卵巢发育不良)综合征。6例术前超声检查除复杂先心病外均合并多脏器畸形。结论超声引导脐静脉穿刺术可清晰显示脐静脉并缩短穿刺时间。胎儿心脏异常的染色体异常发生率与合并多发畸形相关。
Objective To guide the transabdominal puncture of umbilical vein to take fetal blood and analyze the karyotypes of fetuses with congenital heart disease (CHD) and other cardiac abnormalities. Methods Fifty-six cases of fetal abnormal fetus with fetal echocardiography were examined by ultrasound and guided by abdominal umbilical vein puncture. Results All the 56 cases were successful in taking blood without obvious complication, of which 54 cases were successfully cultured. There were 6 cases (11.1%) of chromosomal abnormalities and 48 cases of normal karyotypes (88.9%). Among the 6 cases of abnormal karyotype, 21 cases of trisomy 21, 2 cases of trisomy 18 and 1 case of trisomy 3 , 1 case of 47XYY (super male) syndrome, and 1 case of XO (congenital ovarian dysplasia) syndrome. Six cases of preoperative ultrasound except for complicated congenital heart disease were complicated by multiple organ deformities. Conclusion Ultrasound guided umbilical vein puncture can clearly show the umbilical vein and shorten the puncture time. Fetal heart abnormalities in the incidence of chromosomal abnormalities associated with multiple malformations.