CAJ | 학술논문

　　目的：探讨超声引导下脐静脉穿刺术在产前诊断中的应用。方法：收集中信湘雅生殖与遗传专科医院2004-2012年行超声引导下脐静脉穿刺检测胎儿染色体核型的158份病例（夫妇一方有染色体异常携带组21例，超声发现胎儿异常或可疑畸形、羊水量异常组58例，妊娠妇女血清学筛查高风险组38例，不良生育史组41例），分析手术指征、穿刺并发症等，并追踪其妊娠结局。结果：穿刺成功率100%。异常染色体检出率为6.96%（11/158）。4组间异常染色体检出率比较差异无统计学意义（χ2=7.377，P=0.061）。术后胎儿一过性心动过缓17例（10.8%）；短暂性脐带或胎盘出血97例（61.4%），无早产、宫内感染、胎盘早剥等严重并发症。引产11例，出生畸形3例。结论：超声引导下脐静脉穿刺是一种较为安全、有效的产前诊断方法；经产前诊断检查正常也可能出现后期出生缺陷，因此需结合超声等进一步检查以提高诊断效率，有效减少患儿出生。
　　목적：탐토초성인도하제정맥천자술재산전진단중적응용。방법：수집중신상아생식여유전전과의원2004-2012년행초성인도하제정맥천자검측태인염색체핵형적158빈병례（부부일방유염색체이상휴대조21례，초성발현태인이상혹가의기형、양수량이상조58례，임신부녀혈청학사사고풍험조38례，불량생육사조41례），분석수술지정、천자병발증등，병추종기임신결국。결과：천자성공솔100%。이상염색체검출솔위6.96%（11/158）。4조간이상염색체검출솔비교차이무통계학의의（χ2=7.377，P=0.061）。술후태인일과성심동과완17례（10.8%）；단잠성제대혹태반출혈97례（61.4%），무조산、궁내감염、태반조박등엄중병발증。인산11례，출생기형3례。결론：초성인도하제정맥천자시일충교위안전、유효적산전진단방법；경산전진단검사정상야가능출현후기출생결함，인차수결합초성등진일보검사이제고진단효솔，유효감소환인출생。
Objective: To evaluate the efficacy and safety of cordocentesis guided by transabdominal ultrasound during pregnancy for prenatal diagnosis. Methods:The cordocenteses under transabdominal ultrasound guidance were performed in 158 cases with proper indications for fetal chromosome analysis at Reproductive&Genetic Hospital of CITIC-XIANGYA during 2004 to 2012(21 cases of chromosomal anomaly of gravida or her husband,58 cases of hinting abnormal by ultrasound,38 cases of bad pregnancies history,41 cases of serology screening is positive of gravid). The abnormal karyotypes rate,operational indications, complications and pregnancy outcomes were analyzed. Results: The success rate of cordocentesis was 100%. There were 11 abnormal karyotypes in those 158 cases(6.96%)detected by cordocentesis. The difference in the abnormal karyotypes rate among four groups was not significant (χ2=7.377,P=0.061). There were 97 cases with the blood leakage from placentas or umbilical cords (61.4%),and 17 cases with transient fetal bradycardia (10.8%)after cordocentesis. There was not a preterm delivery,intrauterine infection or placental abruption. In those 11 cases treated by the induced labour,and 3 birth defects were diagnosed. Conclusions:Cordocentesis guided by transabdominal ultrasound is a useful,relatively safe and effective procedure for prenatal diagnosis. Birth defects can not be completely diagnosed by the cordocentesis and genetic analysis at present,so it is necessary to use ultrasonography as the further follow-up diagnosis for reducing the rate of birth defect.