中国伤残医学
中國傷殘醫學
중국상잔의학
CHINESE JOURNAL OF TRAUMA AND DISABILITY MEDICINE
2014年
4期
40-43,44
,共5页
超声%脐血穿刺%心脏发育异常%染色体异常
超聲%臍血穿刺%心髒髮育異常%染色體異常
초성%제혈천자%심장발육이상%염색체이상
Ultrasound%Umbilical cord puncture%Chromosomal abnormalities%Heart abnormalities
目的：超声引导下脐静脉穿刺血细胞培养对先天性心脏发育异常胎儿的染色体核型进行分析。方法：对在我院行产前超声检查发现胎儿先天性心脏发育异常及伴或不伴发胎儿其它结构异常的孕妇94例，经腹在超声引导下脐静脉血穿刺取血行染色体核型分析。结果：94例均取血成功，其中92例脐血细胞培养成功，2例培养失败。92例病例中胎儿单纯先天性心脏发育异常者40例，其中染色体核型异常者10例，占25．0％，染色体核型正常者30例，占75．0％；先天性心脏发育异常伴发其他结构异常者52例，其中染色体核型异常者26例，占50．0％，染色体核型正常者26例，占50．0％。92例染色体核型培养成功者中，染色体核型异常者共36例，其中21-三体综合征11例，18-三体综合征10例，13-三体综合征5例，45 XO 1例，其他染色体异常者9例；染色体核型正常者共56例。结论：胎儿先天性心脏发育异常伴发其他结构发育异常时染色体异常的发生风险增加。
目的：超聲引導下臍靜脈穿刺血細胞培養對先天性心髒髮育異常胎兒的染色體覈型進行分析。方法：對在我院行產前超聲檢查髮現胎兒先天性心髒髮育異常及伴或不伴髮胎兒其它結構異常的孕婦94例，經腹在超聲引導下臍靜脈血穿刺取血行染色體覈型分析。結果：94例均取血成功，其中92例臍血細胞培養成功，2例培養失敗。92例病例中胎兒單純先天性心髒髮育異常者40例，其中染色體覈型異常者10例，佔25．0％，染色體覈型正常者30例，佔75．0％；先天性心髒髮育異常伴髮其他結構異常者52例，其中染色體覈型異常者26例，佔50．0％，染色體覈型正常者26例，佔50．0％。92例染色體覈型培養成功者中，染色體覈型異常者共36例，其中21-三體綜閤徵11例，18-三體綜閤徵10例，13-三體綜閤徵5例，45 XO 1例，其他染色體異常者9例；染色體覈型正常者共56例。結論：胎兒先天性心髒髮育異常伴髮其他結構髮育異常時染色體異常的髮生風險增加。
목적：초성인도하제정맥천자혈세포배양대선천성심장발육이상태인적염색체핵형진행분석。방법：대재아원행산전초성검사발현태인선천성심장발육이상급반혹불반발태인기타결구이상적잉부94례，경복재초성인도하제정맥혈천자취혈행염색체핵형분석。결과：94례균취혈성공，기중92례제혈세포배양성공，2례배양실패。92례병례중태인단순선천성심장발육이상자40례，기중염색체핵형이상자10례，점25．0％，염색체핵형정상자30례，점75．0％；선천성심장발육이상반발기타결구이상자52례，기중염색체핵형이상자26례，점50．0％，염색체핵형정상자26례，점50．0％。92례염색체핵형배양성공자중，염색체핵형이상자공36례，기중21-삼체종합정11례，18-삼체종합정10례，13-삼체종합정5례，45 XO 1례，기타염색체이상자9례；염색체핵형정상자공56례。결론：태인선천성심장발육이상반발기타결구발육이상시염색체이상적발생풍험증가。
Objective:To analyse the chromosome karyotype of fetus with congenital heart abnormalities by abdominal ultrasound -guided puncture of the umbilical vein .Methods:94 patients in our hospital were found with fetal congenital heart abnormalities and with or without other fetal structural abnormalities through fetal echocardiography .Get the blood sample by transabdominal ultrasound -guided umbilical cord puncture and then to check the chromosome .Results:94 cases were successfully taken blood , cord blood cells of 92 cases were successfully cultured , two cases of culture failed .40 cases were simple cases with fetal congenital heart abnormalities in the 92 ca-ses, including chromosome abnormalities in 10 case ( 25.0%), normal karyotype in 30 cases ( 75.0%);52 cases were congenital heart abnormalities associated with other structural abnormalities in the 92 cases, including chromosome abnormalities in 26 cases (50.0%), normal karyotype in 26 cases (50.0%).36 cases were chromosome abnormalities in the 92 cases.In the 36 cases ,with 11 cases of 21 -trisomy syndrome, 10 cases of 18 -trisomy syndrom, 5 cases of 13 -trisomy syndrome and 1 cases of 45XO,other chromosomal abnor-malities were 9 cases.56 cases were normal karyotype in the 92 cases.Conclusions:The risk of chromosomal abnormalities would increase in fetal congenital heart abnormalities associated with the existing of abnormalities in other organs .
