双胎血清学筛查由于需要考虑合子性和绒毛膜性,唐氏综合征阳性病例的有限和多数研究依靠统计建模的局限性等原因,其筛查效率和价值的研究较为复杂.本文从双胎妊娠与非整倍体筛查的相关因素、双胎与单胎之间血清学水平的差异、筛查方案中涉及的颈项透明层厚度、血清学筛查方案在双胎妊娠中的研究、双胎之一消失、双胎血清学筛查方案的选择等方面,探讨基于唐氏综合征血清学筛查的双胎产前筛查在临床中的应用价值,以期为评估双胎唐氏综合征风险提供理论依据.

Object:To understand methicillin-resistant Staphylococcus aureus leukocidin genes check conditions for clinical treatment,drug selection and epidemiological investigations provide evidence;Methods:Collected 48 samples from methicillin-resistant Staphylococcus aureus patients at First People''s Hospital of Guangzhou during July and October in 2014, and MecA and PVL genes were detect ed by PCR method;Results:mecA gene was detected in all 48 MRSA isolates,and PVL gene was detected in 21 isolates among 48 MRSA isolates;PVL gene-positive MRSA compared with PVL gene-negative MRSA,the two groups showed no significant difference resistance (P＞ 0.05);Conclusion:Leukocidin PVL gene detection rate is higher,which is an important pathogenic factor for MRSA.;PVL MRSA resistance gene and no obvious correlation.

16号染色体三体(Trisomy 16,T16)是自然流产中最常见的染色体三体,在所有妊娠中占比约1％～2％[1].染色体三体由减数分裂或受精卵早期卵裂过程中染色体不分离所致,一般认为染色体不分离的发生几率与孕妇年龄呈正相关.非嵌合型的T16胚胎一般不能存活,并在孕早期发生自然流产,目前尚无非嵌合型T16的活产儿或成人病例报道.而嵌合型的T16可导致胎儿宫内生长受限(fetal growth restriction,FGR)、子痫、早产、心脏异常及异常面容等.本文将讨论1例嵌合型T16的产前诊断过程,分析不同标本类型结果不一致的原因,以优化产前诊断标本类型和技术的选择,为临床提供参考.

OBJECTIVE:To study the distribution of peripheral blood lymphocyte subsets in healthy children aged 0-6 years. METHODS:A total of 826 healthy Han children aged 0-6 years were recruited. According to their age, the children were divided into four groups: newborn, infant, toddler and preschool. Their peripheral blood samples were collected to measure the percentages of lymphocyte subsets by flow cytometry. RESULTS:There were significant differences in the percentages of CD3+ T cells, CD3+CD4+ T cells and CD3-CD19+ B cells and the CD4+/CD8+ ratio between boys and girls (P<0.05). The girls had a lower percentage of CD3-CD19+ B cells, higher percentages of CD3+ T cells and CD3+CD4+ T cells and a higher CD4+/CD8+ ratio than the boys. The newborn group had the highest percentages of CD3+ T cells and CD3+CD4+ T cells and the highest CD4+/CD8+ ratio (P<0.05). The percentage of CD3+CD4+ T cells and the CD4+/CD8+ ratio gradually decreased with age and the preschool group had the lowest values (P<0.05). The newborn group had the lowest percentages of CD3-CD19+ B cells and CD3-CD16+CD56+ NK cells (P<0.05). The percentage of CD3-CD16+CD56+ NK cells gradually increased with age and the preschool group had the highest percentage (P<0.05). The percentage of CD3-CD19+ B cells reached the peak in the toddler period and then decreased with age (P<0.05). The preschool group had the highest percentage of CD3+CD8+ T cells (P<0.05). The variation trend of distribution of lymphocyte subsets in boys from different age groups was consistent with that in children from different age groups. For girls, the newborn group had the highest percentage of CD3+CD4+ T cells and CD4+/CD8+ ratio (P<0.05). CONCLUSIONS:The distribution of peripheral blood lymphocyte subsets in healthy children is significantly different across ages and sexes. Therefore, the reference values should be established according to age and sex.

目的 通过对广东地区育龄女性TORCH感染筛查结果进行分析,了解广东地区育龄女性TORCH感染情况.方法 采用化学发光免疫分析法筛查广东地区育龄女性TORCH感染,并对筛查结果进行分析.结果 广东地区育龄女性的弓形虫、风疹病毒、巨细胞病毒、单纯疱疹病毒IgM抗体阳性率分别为0.17％(47/26 708)、1.57％(429/27 368)、0.68％(184/26 987)和4.20％(1 154/27 489);弓形虫、风疹病毒、巨细胞病毒、单纯疱疹病毒IgG抗体阳性率分别为4.86％(43/885)、79.18％(9 444/11 928)、98.31％(1 108/1 127)和92.43％(1 502/1 625).结论 开展育龄女性TORCH感染筛查工作,对优生优育、提高人口素质具有非常重要意义.

目的 通过对广东地区育龄妇女人细小病毒B19(human parvovirus B19,B19)感染筛查结果进行分析,了解广东地区育龄妇女人细小病毒B19感染情况. 方法 采用酶联免疫吸附试验(enzyme linked immunosorbent assay,ELISA)检测广东地区育龄妇女血清中人细小病毒B19特异性IgM和IgG抗体,并对检测结果进行分析. 结果 广东地区育龄妇女血清中人细小病毒B19特异性IgM和IgG抗体阳性率分别为1.40％(700/50 086)、16.72％ (341/2 039).结论 开展育龄妇女人细小病毒B19感染筛查工作,对优生优育、提高人口素质具有非常重要意义.

目的：评价葡萄糖6磷酸脱氢酶（G6PD）检测在地中海贫血筛查中的应用价值，为地贫筛查提供联合检测的依据。方法在血红蛋白电泳、红细胞平均体积（MCV）、红细胞渗透脆性试验的基础上增加G6PD检测。结果用血红蛋白电泳、MCV、脆性试验联合检测对α地贫的准确度为90.5%，用血红蛋白电泳、MCV、脆性试验、G6PD对α地贫的准确度为96.8%，二法有显著性差别。结论血红蛋白电泳、MCV、脆性试验、G6PD联合测定是地贫筛查的更理想的试验方法。

目的 探讨孕早期一站式唐氏筛查模式的临床应用价值及其筛查结果与胎儿染色体异常的关系.方法 对2012年1月至2014年9月之间在本院进行孕早期一站式唐氏筛查的20 323例孕妇的产前筛查、产前诊断和妊娠结局进行分析.结果 20 323例孕早期一站式筛查孕妇筛出高风险孕妇539例,阳性率为2.65％,高风险孕妇通过产前诊断21-三体综合征胎儿19例、18-三体综合征胎儿5例和其他染色体异常胎儿9例;19 794例筛查低风险孕妇中随访妊娠结局发现4例染色体异常,其中21-三体综合征1例,18-三体综合征1例,其他染色体异常2例.结论 孕早期一站式唐氏筛查是产前筛查重要筛查模式,对预测胎儿染色体异常有的临床价值.