利用CNV-seq技术产前诊断Pallister-Killian综合征胎儿一例

应用拷贝数变异测序(copy number variation sequencing,CNV-seq)技术鉴别来源不明的胎儿标记染色体,明确其遗传物质的来源,并探讨此技术在产前诊断中的应用价值。讨论Pallister-Killian综合征(Pallister-Killian syndrome,PKS)的临床特征及遗传学特点,提高对此类罕见染色体疾病的认识。该病例因在妊娠中期超声发现胎儿异常而行羊水穿刺进行CNV-Seq检测,同时分析胎儿和父母的核型。羊水CNV-Seq结果示该样本12号染色体p13.33-p11.1处检测到拷贝数为3.5、片段大小为34.70 Mb的嵌合重复区域;羊水染色体核型结果为47,XY,+i(12)(p10)[58]/46,XX[42],综合上述结果考虑为PKS。通过结合超声结果,综合应用染色体G显带核型分析和CNV-seq技术能准确确认染色体异常片段来源,在产前有效诊断PKS患者。     

Voluntariado radiológico para apoyar un programa de detección precoz del cáncer de mama en Perú: descripción del proyecto,presentación de los primeros resultados e impresiones

Breast cancer is the second most common cancer in Peruvian women. Due to limitations in national breast cancer screening programs, especially in rural areas, more than 50% of cases of breast cancer in Peru are diagnosed in advanced stages. In collaboration with a local clinic registered as a nongovernmental organization (CerviCusco), RAD-AID International aims to create a sustainable diagnostic structure to improve breast cancer screening in Cuzco. With the support of local, national, and international partners that have collaborated in analyzing radiological resources, raising awareness in the population, acquiring equipment, training clinical staff, and building referral networks, our teams of radiologists, included in the RAD-AID team, have participated in training CerviCusco staff in breast ultrasound, thus enabling additional training for radiology residents through a regulated international collaboration.     

产前分娩预演对初产妇自然分娩成功率及产后并发症的影响

[目的]探讨产前分娩预演对初产妇自然分娩成功率和产后并发症的影响.[方法]收集2016年9月至2018年10月在本院妇产科分娩的初产妇86例,按产前分娩教育方式分为观察组(n=42)和对照组(n=44).对照组孕妇产前接受常规产前健康教育课程培训,观察组在对照组的基础上进行分娩预演实践.比较两组自我效能感量表(GSES)、抑郁自评量表(SDS)和焦虑自评量表(SAS)评分及自然分娩成功率和产后并发症发生率等.[结果]与对照组相比,观察组分娩总产程和第一、二、三明显缩短;新生儿窒息率和产后SDS、SAS评分均明显降低;自然分娩成功率、GSES评分均明显提高,其差异均有统计学意义(P<0.05).观察组产后出血、感染、尿潴留、乳汁淤积发生率及总并发症发生率均低于对照组(P<0.05).[结论]采用常规产前健康教育培训结合产前分娩预演实践的产前管理方式,可有效提高初产妇自然分娩成功率,缩短产程,减少产后并发症的发生,值得临床推广应用.     

产前超声诊断胎儿右房异构一例

本文报道产前超声诊断胎儿右房异构一例。孕妇孕24周产前超声检查发现胎儿左位心合并复杂心血管畸形(右心室双出口、房室间隔缺损、肺动脉发育不良、双侧上腔静脉、心下型完全型肺静脉异位引流)、胃泡位于腹腔右侧、中位肝、可疑无脾、腹主动脉与下腔静脉位于脊柱左侧、双侧支气管呈右侧支气管对称形态,综合考虑右房异构可能。引产后经尸体解剖证实脾脏发育不良、右房异构。右房异构常合并复杂心血管畸形,因此产前超声发现复杂心血管畸形时,应警惕右房异构的可能。右房异构病死率极高,产前诊断具有重要意义。     

Congenital high airway obstruction syndrome (CHAOS): Natural history,prenatal management strategies,and outcomes at a single comprehensive fetal center

PurposeCongenital high airway obstruction syndrome (CHAOS) is a devastating fetal condition of complete airway discontinuity resulting in significant hydrops and extreme lung hyperplasia. It is universally fatal with survival reported only in the rare spontaneous fistulization or EXIT intervention (Ex Utero Intrapartum Treatment). Even in these cases, mortality remains high, and current investigations are targeting prenatal interventions. This report describes our experience with management and fetal interventions for CHAOS, including laser laryngotomy.MethodsWe retrospectively reviewed all patients diagnosed with CHAOS at a single academic institution between 2006 and 2017.ResultsFifteen patients were identified. Eight had obstruction at the trachea and seven at the larynx. In the laryngeal obstructions, three expired shortly after birth, and one survived after spontaneous fistulization and subsequent EXIT to tracheostomy. The remaining three underwent in-utero treatment with laser laryngotomy. One had preterm premature rupture of membranes (PPROM), delivered 3 days post-operatively, and died. Two underwent EXIT to tracheostomy with one surviving to discharge and is currently 2 years old.ConclusionOur study demonstrates the outcomes of a large series of patients diagnosed with CHAOS. While mortality remains high, options for fetal intervention are being explored to allow alterations in the prenatal natural history and improve postnatal outcomes.Type of StudyRetrospective Treatment Study.Level of EvidenceLevel IV.     

组织多普勒成像评价左房收缩功能的临床研究

目的应用多普勒组织成像技术测定61名健康成人二尖瓣环运动峰值速率(Am),以评价Am在左房收缩功能中的价值。方法观察61名无心脏疾患者的Am,Am值为二尖瓣前、后、左、右侧心房收缩期二尖瓣环运动峰值速率的平均值;并与左房收缩时左房面积改变分数(FAC)和容积改变分数(FVC)作相关性研究。结果61例研究对象平均FAC和FVC分别为(31±10)%和(42±11)%;Am为(13.4±3.2)cm/s;直线回归分析显示,Am与FAC和FVC均呈正相关(r=0.78和0.82;P均<0.001)。结论Am与FAC、FVC具有良好相关性,从而为临床评价左房收缩功能提供了一种简便而快速的方法。     

超声在狭窄颈部动脉支架植入术后随访中的应用

目的评价超声在颈部动脉(颈动脉、锁骨下动脉及椎动脉)狭窄血管支架成形术后随访中的应用价值。方法应用超声随访观察47例患者的15枚颈内动脉(ICA)支架、9枚锁骨下动脉(SCA)支架及26枚椎动脉(VA)支架术后1～12个月,观察狭窄血管处支架位置、支架内及远端的收缩期峰值流速(PSV)、支架内有无血栓及再狭窄等情况,判断其疗效。结果支架置入术后超声示狭窄ICA、VA及SCA内径较术前明显增宽,内径分别由术前(2．90±0．76)mm、(2．0±0．38)mm及(4．00±1．46)mm增宽至术后的(4．20±1．78)mm、(3．4±0．51)mm、(6．15±0．98)mm;PSV分别由术前(115±15)cm/s、(181．4±32．5)cm/s、(257．67±66．41)cm/s减低至术后的(75±24)cm/s、(47．15±12．44)cm/s及(98．87±48．63)cm/s。随访中发现2例患者颈内动脉支架狭窄,1例颈内动脉支架闭塞。结论超声是评价颈部动脉狭窄血管支架成形术后疗效的无创、安全可靠的影像学检查方法。