目的 初步探讨无创产前基因检测（NIPT）筛查胎儿患猫叫综合征临床性能。方法 收集2018年4月—2019年3月行NIPT提示胎儿患猫叫综合征高风险的孕妇,并收集其羊水细胞培养染色体核型分析或微阵列芯片检测结果,分析NIPT与羊水产前诊断结果的符合率。结果 NIPT提示猫叫综合征病例11例,孕妇均接受了羊水穿刺,染色体核型分析或微阵列芯片检测出胎儿染色体异常6例,符合率为54.5%。结论 NIPT对胎儿猫叫综合征的筛查具有临床价值,当提示高风险时必须行有创性产前诊断。

Objective To investigate the value of non-invasive prenatal testing（NIPT）for the screening of fetal Cri du Chat Syndrome（CdCS）. Methods Pregnant women who accepted NIPT with the results with high risk of fetal CdCS were selected in the study from April 2018 to March 2019．They were also accepted prenatal genetic counseling and the chromosome karyotype analysis or CMA detection of amniotic fluid cell culture．The coincidence rate of NIPT with chromosome karyotype and microarray analysis results were conducted. Results There were 11 cases with high risk of fetal CdCS in NIPT．All of them had received amniocentesis chromosome karyotype or microarray analysis,6（54.5%）cases were confirmed. Conclusions NIPT has some clinical value in screening fetal CdCS from maternal blood．Therefore,it was suggested to perform the invasive chromosomal karyotyping and CMA for high risk of fetal CdCS．

目的 了解CHPS患儿经胃镜下幽门肌切开术治疗后幽门部黏膜近期各种并发症的发生情况及对预后的影响。方法 选取2006—2012年我院新生儿科确诊的34例CHPS患儿。以超细胃镜进入十二指肠乳头处,使用电切刀按上行性方向,沿幽门管纵轴切割肥厚狭窄的幽门管黏膜及环形肌以解除幽门部梗阻。术后第1、3、6月复查胃镜。结果 34例CHPS患儿共行胃镜下幽门肌切开术48次,均未发生胃及幽门穿孔、撕裂等严重并发症。24例患儿术后通过胃镜进行了复查,胃镜见幽门部及黏膜改变主要有黏膜充血肿胀、切口未完全愈合、切口疤痕形成、幽门部息肉形成等。结论 经胃镜下幽门肌切开术是一种安全性较高的治疗CHPS的新技术。术后黏膜充血肿胀、切口未完全愈合等幽门部黏膜改变的发生率随时间下降。切口疤痕形成并未影响幽门功能。

目的 探讨新生儿早发型B族链球菌(GBS)败血症的临床特点,提高对本病的认识。方法 选取我院2010—2012年我院新生儿重症监护病房(NICU)收治的新生儿资料,回顾性分析GBS的临床表现、实验室检查、治疗和转归。结果 早发型GBS败血症8例,占住院患儿的6.28‰,均为足月儿,生后24小时内发病,以气促、发绀等呼吸系统症状为主,其中4例出现感染性休克表现;实验室检查提示血常规WBC:2.07~14.1×10⁹/L,＜5×10⁹/L 5例,中性粒细胞绝对值0.54~8.32×10⁹/L。胸部X线提示:肺部纹理粗乱,渗出增多。1例需机械通气辅助呼吸。青霉素联合头孢三代或万古霉素治疗有效,重症感染者需加强支持治疗。结论 应重视新生儿早发型无乳链球菌败血症早期呼吸系统症状,尽早诊断和治疗,降低病死率。

Objective To investigate the clinical features of early-on set neonatal Group B Streptococcal (GBS)septicemia in order to guide the clinical diagnosis and treatment. Methods Retrospectively analysing the clinical presentation, laboratory examination, treatment and prognosis of the 8 cases of all newborns from 2010 to 2012 in our hospital. Results The incidence of neonatal early-on set Group B Streptococcal septicemia was 6.28‰.8 cases were full-term infants in this study.Respiratory symptoms such as anhelation and cyanosis were first signs of early-on set Group B streptococcal septicemia within 24 hours after birth; 4 cases of septic shock. Results of laboratory tests included WBC:2.07~14.1×10⁹/L, in which 5 cases were ＜5×10⁹/L, N 0.54~8.32×10⁹/L. Chest X-ray: lung texture showed coarse and disorderly, leakage was increased. One case needed respiratory support with mechanical ventilation. Intravenous treatment of neonatal GBS with penicillin combined with Vancomycin was effective. Patients of serve infections should be provided supportive care. Conclusion Patients of serve early symptom of respiratory system should be paid attention. Early diagnosis and treatment should be as soon as possible to reduce fatalities.