中国妇幼健康研究
中國婦幼健康研究
중국부유건강연구
Chinese Journal of Woman and Child Health Research
2015年
4期
815-817
,共3页
杨昕%李发涛%甄理%潘敏%李东至%韩瑾
楊昕%李髮濤%甄理%潘敏%李東至%韓瑾
양흔%리발도%견리%반민%리동지%한근
产前诊断%标本%母体细胞污染%短串联重复序列-聚合酶链式反应
產前診斷%標本%母體細胞汙染%短串聯重複序列-聚閤酶鏈式反應
산전진단%표본%모체세포오염%단천련중복서렬-취합매련식반응
prenatal diagnosis%sample%maternal cells contamination ( MCC)%short tandem repeat ( STR)-PCR
目的 建立单基因病介入性产前诊断的母体细胞污染鉴定技术,对绒毛穿刺、羊水穿刺及胎血穿刺的标本进行母体细胞污染的鉴定,以降低误诊率. 方法 选择8个短串联重复序列( STR)位点,建立短串联重复序列-聚合酶链式反应( STR-PCR)方法,并建立母体细胞污染的浓度梯度模型,对2 120例产前诊断标本进行检测,比较羊水穿刺、绒毛穿刺及脐血穿刺母体细胞污染的发生率. 结果 共施行约2 120例产前诊断标本,采用STR-PCR方法检测标本1 452例,其中羊水穿刺标本1 022例,脐血标本229例,绒毛标本201例. 3种方法检测到母体细胞污染病例共19例,其中羊水16例(1.6%),绒毛2例(1.0%),脐血1例(0.4%). 在19例检测到母血细胞污染的病例中,污染比例在25%以上的病例有2例,污染比例10%以上的有18例. 结论在产前诊断标本中,羊水穿刺母体细胞污染发生率较高. 在单基因遗传病产前诊断中,应常规进行母体细胞污染的检测.
目的 建立單基因病介入性產前診斷的母體細胞汙染鑒定技術,對絨毛穿刺、羊水穿刺及胎血穿刺的標本進行母體細胞汙染的鑒定,以降低誤診率. 方法 選擇8箇短串聯重複序列( STR)位點,建立短串聯重複序列-聚閤酶鏈式反應( STR-PCR)方法,併建立母體細胞汙染的濃度梯度模型,對2 120例產前診斷標本進行檢測,比較羊水穿刺、絨毛穿刺及臍血穿刺母體細胞汙染的髮生率. 結果 共施行約2 120例產前診斷標本,採用STR-PCR方法檢測標本1 452例,其中羊水穿刺標本1 022例,臍血標本229例,絨毛標本201例. 3種方法檢測到母體細胞汙染病例共19例,其中羊水16例(1.6%),絨毛2例(1.0%),臍血1例(0.4%). 在19例檢測到母血細胞汙染的病例中,汙染比例在25%以上的病例有2例,汙染比例10%以上的有18例. 結論在產前診斷標本中,羊水穿刺母體細胞汙染髮生率較高. 在單基因遺傳病產前診斷中,應常規進行母體細胞汙染的檢測.
목적 건립단기인병개입성산전진단적모체세포오염감정기술,대융모천자、양수천자급태혈천자적표본진행모체세포오염적감정,이강저오진솔. 방법 선택8개단천련중복서렬( STR)위점,건립단천련중복서렬-취합매련식반응( STR-PCR)방법,병건립모체세포오염적농도제도모형,대2 120례산전진단표본진행검측,비교양수천자、융모천자급제혈천자모체세포오염적발생솔. 결과 공시행약2 120례산전진단표본,채용STR-PCR방법검측표본1 452례,기중양수천자표본1 022례,제혈표본229례,융모표본201례. 3충방법검측도모체세포오염병례공19례,기중양수16례(1.6%),융모2례(1.0%),제혈1례(0.4%). 재19례검측도모혈세포오염적병례중,오염비례재25%이상적병례유2례,오염비례10%이상적유18례. 결론재산전진단표본중,양수천자모체세포오염발생솔교고. 재단기인유전병산전진단중,응상규진행모체세포오염적검측.
Objective To test maternal cells contamination ( MCC) in samples of choriomic villus puncture, amniotic fluid puncture and cord blood puncture by establishing the test technique of MCC in interventional prenatal diagnosis of monogenic disease so as to reduce misdiagnosis rate.Methods Eight STR sites were selected to establish STR-PCR method and MCC concentration gradients.Totally 2 120 prenatal samples were detected to compare the incidence of MCC among choriomic villus puncture, amniotic fluid puncture and cord blood puncture samples.Results Totally 2 120 prenatal diagnosis samples were performed, and 1 452 samples were tested by STR-PCR method, including 1 022 amniotic fluid puncture samples, 229 cord blood samples and 201 choriomic villus samples.There were 19 cases with MCC detected by three methods, including 16 (1.6%) cases with amniotic fluid puncture, 2 (1.0%) cases with choriomic villus puncture and 1 (0.4%) case with cord blood puncture.Of 19 cases there were 2 cases with contamination over 25% and 18 cases with contamination over 10%.Conclusion In prenatal diagnosis samples, the incidence of MCC is relatively high in amniotic fluid puncture samples.MCC detection should be performed as a routine test in prenatal diagnosis of monogenic disease.
