论文部分内容阅读
目的探讨胎儿染色体异常与产前诊断的高危因素的关系及胎儿预后。方法回顾性分析2004年10月至2009年8月间在我院因各种原因行羊膜腔穿刺或脐带血穿刺产前诊断的胎儿染色体核型。结果总共1075例产前诊断中共发现胎儿染色体异常32人,染色体异常检出率2.97%。其中检出45,XY,t(21.14)1例,双胎均为46,XX,22Pstk+1例,47,XY,+(?),1例,46,XX,t(8;16)1例,46,XY,t(1;18)1例,46,XY,t(2;14)1例,46,XX,t(11;12)1例,产前诊断指征均为夫妻双方之一染色体平衡异位。46,XY,inv(Y)1例,产前诊断指征为生育过唐氏综合征。46,XY,inv(9)10例,产前诊断指征为羊水少,单脐动脉1人,孕期使用胚胎毒性药物使用史1人,唐氏征筛查高危4人,高龄2人,地中海贫血1人。47,XXY1例,产前诊断指征为胎儿双肾盂分离。唐氏综合征6例,产前诊断指征为唐氏征高危2人,高龄3人,NT值高1人。47,XYY2例,产前诊断指征为唐氏征高危1人,高龄1人。47,XXY/46,XX1例,产前诊断指征为唐氏征高危。18-三体3例,产前诊断指征为高龄1人,NT值高1人,18,13-三体高危1人。结论夫妻双方之一染色体平衡异位胎儿染色体核型异常类型多样。唐氏综合征及18-三体胎儿常见于高龄,血清学筛查高危,NT值升高孕妇。孕11-14周B超测NT值及孕中期血清学唐氏综合征筛查可以提高产前诊断的效率,减少出生缺陷。
Objective To investigate the relationship between fetal chromosomal abnormalities and risk factors of prenatal diagnosis and fetal prognosis. Methods A retrospective analysis of fetal karyotypes in our hospital for prenatal diagnosis of amniocentesis or cord blood puncture for various reasons from October 2004 to August 2009 was retrospectively analyzed. Results A total of 1075 cases of prenatal diagnosis were found in 32 cases of fetal chromosomal abnormalities, chromosomal abnormalities detected rate of 2.97%. There were 1 case of 45, XY, t (21.14), 46 cases of XX, 22 cases of Pstk and 47 cases of XY, + (?), 1 case, 46, XX, t 1, 46, XY, t (2; 14) in 1 case, 46, XX, t (11; 12) in 46 cases with XY, t One of the chromosomes is ectopic. 46, XY, inv (Y) 1 case, prenatal diagnosis of indications for Down’s syndrome have been born. 46, XY, inv (9) 10 cases, prenatal diagnosis of indications for amniotic fluid less, single umbilical artery 1, the use of embryo during pregnancy toxic drug history 1, Down’s sign screening for high-risk 4 people, 2 years old, Mediterranean 1 anemia. 47, XXY1 cases, prenatal diagnosis indications for fetal double renal pelvic separation. Down syndrome in 6 cases, prenatal diagnosis indications for Down’s syndrome at high risk of 2 people, 3 were elderly, NT value of 1 high. 47, XYY2 cases, prenatal diagnosis indications for Down’s syndrome high-risk 1, 1-year-old. 47, XXY / 46, XX1 cases, prenatal diagnosis indications for Down’s syndrome high risk. 18-trisomy in 3 cases, prenatal diagnosis of indications for the elderly 1, NT high value 1, 18,13-trisomy 1 high risk. Conclusion One of the two husbands and husbands has one kind of chromosome aberration abnormal fetal chromosome karyotype. Down’s syndrome and 18-trisomy are common in advanced age, high-risk serological screening, elevated NT values in pregnant women. Pregnancy 11-14 weeks B ultrasound NT value and the second trimester serum Down’s syndrome screening can improve the efficiency of prenatal diagnosis and reduce birth defects.