胎儿先天性心脏病产前产后一体化管理现状及挑战

为了提高胎儿先天性心脏病(congenital heart disease, CHD)的产前检出率和诊断准确率, 关口前移的防治已成为国际主要趋势。胎儿CHD产前产后一体化管理, 即及早准确的诊断、结构相关的多维病因诊断、规范咨询、面向下一胎一级预防的临床路径建立及出生救治, 在实践中已显示了对CHD防治的效果。现针对胎儿CHD产前产后一体化管理目前国内实施的现状、存在的挑战及发展趋势进行总结及阐述。     

胎儿心脏超声Yagel法扫描在产前诊断双胎妊娠胎儿先天性心脏病中的价值

目的探讨胎儿心脏超声Yagel法扫描对双胎妊娠胎儿先天性心脏病的产前诊断价值。方法1103例双胎妊娠孕妇中,有胎儿先天性心脏病的高危病史孕妇127例（高危双胎组）,正常双胎妊娠孕妇976例（低危双胎组）。应用超声Yagel法对两组双胎妊娠胎儿进行心脏5个心脏横切面（胎儿腹部胃泡平面、四腔心平面、五腔心平面、三血管气管平面和动脉弓平面）快速扫描,并对诊断为先天性心脏病而引产的胎儿进行尸体解剖,以核对产前超声Yagel法诊断的正确性,同时进行胎儿染色体分析;对未引产或产前诊断未发现明显异常的胎儿进行临床随访,胎儿出生后进行新生儿或婴儿的心脏超声检查,判定产前超声Yagel法诊断的正确性。结果（1）1103例双胎妊娠中,有12例产前发现有先天性心脏病,检出率为1．09％,其中4例（33．3％,4／12）来自高危双胎组,8例（66．7％,8／12）来自低危双胎组。（2）2例双胎为两个胎儿同时患同一种先天性心脏病,其中1例双胎胎儿均为法洛四联症（TOF）,另1例双胎两个胎儿均为心脏横纹肌瘤;1例双胎为两个胎儿患不同类型异常,一胎儿为TOF,另一胎儿心脏正常,但十二指肠闭锁。上述3例患者均选择终止妊娠放弃胎儿,尸体解剖结果与产前超声诊断相同。9例双胎仅一胎儿受累为先天性心脏病,另一胎儿正常,均足月分娩或自然早产,其中7例在行新生儿心脏检查时得出的诊断与产前相同。（3）12例中,2例有先天性心脏病的双胎被发现染色体异常。（4）1091例双胎妊娠孕妇产前超声检查未发现胎儿心脏异常,但其中1例双胎中的1个胎儿出生后被诊断为室间隔缺损（VSD）,染色体异常（为21三体）。另1个胎儿正常。另1例双胎中的1个胎儿出生后被诊断为动脉导管未闭,另1个胎儿正常。（5）应用超声Yagel法产前诊断双胎先天性心脏病的敏感度为82．4％,特异度为100％。结论心脏超声Yagel法是筛查和诊断双胎妊娠中胎儿先天性心脏病的简单、有效和可靠方法,值得在临床产前诊断中推广应用。     

胎儿先天性心脏病151例围生结局及预后分析

目的:探讨各种胎儿先天性心脏病(简称先心病)的围生儿结局和预后,为产前咨询、产后处理提供证据.方法:回顾性分析2005年1月至2009年12月在广东省人民医院产前和(或)产后经彩色超声心动图检查诊断为胎儿先心病151例的临床资料,并分析随访至出生后1～5年的情况.结果:我院的胎儿先心病的发生率为1.25％(151/12056),其中活产104例,引产45例(包括死胎引产1例),死产2例；存活95例,死亡9例(自然死亡6例,心脏矫形术后死亡3例).简单型先心病占41.06％ (62/151),其中61.29％( 38/62)是产后诊断,存活率91.94％(57/62).复杂型先心病占58.94％ (89/151),＜28孕周诊断者占42.70％( 38/89),复杂型先心病的引产率46.07％(41/89),存活率42.70％(38/89).产前诊断的98例胎儿先心病仅有67例产前行胎儿染色体核型分析,染色体异常发生率为16.42％( 11/67).151例胎儿先心病共有25例患儿行心脏矫形手术治疗,其中简单型先心病8例(术后均存活),复杂型先心病17例(术后死亡3例).结论:简单型先心病可出生后观察、随访,预后好；近一半复杂型先心病可以在28周内明确诊断,某些复杂畸形可以经医患双方充分沟通后,决定是否引产或出生后限期手术；应重视对胎儿先心痛的染色体异常进行产前诊断.     

染色体微阵列分析技术在先天性心脏病胎儿中的临床应用

目的:探讨染色体微阵列分析技术(CMA)检测先天性心脏病(CHD)胎儿染色体异常的临床应用价值.方法:收集2016年1月至2020年3月因产前检查存在高危因素在南京医科大学附属无锡妇幼保健院产前诊断中心就诊,行超声心动图提示CHD并接受侵入性产前诊断的100例胎儿的临床资料.采用单核苷酸多态性阵列行CMA检测.100例...     

孕中期胎儿心脏单纯肺动脉主干增宽在产前超声筛查胎儿CHD中的诊断与鉴别诊断价值

目的评价孕中期胎儿单纯肺动脉主干增宽在产前超声筛查胎儿CHD中的诊断与鉴别诊断价值,提高胎儿CHD的产前诊断率,改善预后。方法 2017年12月至2019年11月山西省泽州县人民医院对31例18～24周行胎儿畸形筛查时以MPA/AO 1.2为诊断标准,仅表现为肺动脉主干增宽的胎儿,后期进一步超声复查及随访评价肺动脉主干及左右肺动脉内径、血流速度;肺动脉瓣的回声及启闭运动,明确是否合并胎儿CHD及病变类型,所有胎儿超声复查及随访至新生儿超声心动图检查或引产后尸解。结果超声复查及随访的31例胎儿肺动脉主干增宽(MPA/AO1.2)的病例中, 3例为肺动脉瓣重度狭窄伴狭窄后肺动脉主干扩张; 1例为先天性肺动脉瓣缺如(congenital absence of the pulmonary valve)伴瓣后主肺动脉及左右肺动脉扩张;1例为特发性肺动脉扩张(idiopathic dilatation of pul-monary artery);1例为特发性肺动脉高压。其中先天性肺动脉瓣缺如合并Down(21三体)综合征染色体畸形。余25例中未发现明确心脏畸形。结论肺动脉增宽是多种先天性心脏病的表现形式,孕中早期仅表现肺动脉主干增宽,随孕龄增大,通过对胎儿肺动脉瓣回声及启闭运动、肺动脉峰值流速等逐渐显现的病理性超声表现,产前容易明确诊断胎儿CHD,其中肺动脉重度狭窄、先天性肺动脉瓣缺如、肺动脉重度高压或合并染色体异常是终止妊娠的指征。     

先天性畸形的产前诊断、围产期管理及随诊网络的建立与初步实践效果分析

目的 通过先天性畸形的产前诊断、围产期管理和随诊网络的建立,分析初步实践的效果. 方法网络由"产前诊断和分娩中心"与"新生儿治疗及随诊中心"组成.两个中心随时保持业务交流与合作,以实现其网络化功能. 结果网络运行模式:超声科及产科通过超声等影像学检查发现畸形,家长到新生儿外科咨询,新生儿外科与产科、超声科讨论诊断、制定分娩与诊疗计划,按计划分娩,根据病情选择:(1)配有新生儿转运设备的救护车即刻转诊;(2)救护车常规转运;(3)在分娩医院观察及出院后到新生儿外科门诊.转诊患儿进一步检查后根据病情选择急诊手术、择期手术或观察.2003年3月至2007年12月共接诊经产前超声诊断的先天性畸形患儿228例.19例妊娠中期终止妊娠;4例出生后放弃治疗;56例在新生儿期手术,其中51例治愈、5例术后放弃治疗;149例出生后未行手术,仅观察. 结论对先天性畸形的产前诊断、围产期管理及随诊实施网络化管理,进一步加强小儿外科与产科、超声科的密切交流与合作,在实践中逐步建立一套适合我国现实医疗环境、较规范的运作模式,可望进一步提高我国先天性畸形的围产期管理和总体诊治水平.     

西藏林芝地区胎儿先天性心脏病的危险因素分析

目的:探究西藏林芝地区先天性心脏病(CHD)的发生情况及其相关危险因素的关系。方法:选择于2016年6月至2018年6月在林芝市人民医院产前检查和(或)分娩且为当地常住人口的2126例孕妇,孕中期常规进行胎儿CHD筛查及孕期危险因素的调查。经胎儿超声心动图诊断出胎儿心脏畸形病例纳入CHD组,将胎儿超声心动图检查结果正常的孕妇纳入对照组,所有胎儿出生后进一步检查以明确诊断。结果:CHD组纳入26例,产后均确诊为CHD;对照组纳入2100例,产后进行一般体检未见异常,心脏听诊未闻及杂音;CHD产前检出率1.22%。单因素分析结果显示,两组孕妇年龄、孕前体质量指数(BMI)、孕产史、孕前6个月至此次产前检查期间主动及被动吸烟史、孕早期补充叶酸及微量元素、孕期发热史及感染性疾病史、妊娠期合并糖尿病史比较,差异有统计学意义(P0.05)。多因素分析结果显示,孕前超重(OR=13.60,95%CI 5.04～36.66)及孕前肥胖(OR=67.33,95%CI 16.03～282.78)、孕前6个月至此次产前检查期间主动与被动吸烟史(OR=4.02,95%CI 1.59～10.17)、孕期发热史(OR=10.31,95%CI 1.56～68.29)、妊娠合并糖尿病史(OR=15.88,95%CI 3.90～64.63)是胎儿发生CHD的危险因素。结论:为降低先心病的发病及改善预后,应加强林芝地区孕妇的孕期保健知识宣教及孕期管理,及时进行有效产前检查。     

胎儿先天性心脏病的筛查和诊断

超声是胎儿心血管疾病产前筛查与诊断的首选技术。文章试图阐述一种适合我国人群的胎儿先天性心脏病的产前筛查和诊断模式,即大范围、广覆盖快速筛查胎儿先天性心脏病,对筛查出的阳性病例由胎儿先天性心脏病产前诊断专家进行产前诊断,以提高影响患儿生存的严重先天性心脏病产前检出率。     

彩色多普勒超声在胎儿心脏病诊断中的应用

目的：探讨彩色多普勒超声诊断胎儿心脏病的临床价值。方法：应用Ａｃｕｓｏｎ１２８×Ｐ／１０彩色多普勒超声诊断仪检查３６８例孕２０～４０周的心脏病高危胎儿，并将产前超声检查与胎儿尸体检查或分娩后彩色多普勒超声检查结果进行对照。结果：产前超声检查发现１１例胎儿心脏病，５例经引产后胎儿尸体检查证实，５例经产后彩色多普勒超声检查证实，１例假阳性，１例假阴性。结论：彩色多普勒超声是产前诊断胎儿心脏病的重要方法。     

胎儿先天性心脏病产前超声筛查诊断模式的评价

目的 评价胎儿先天性心脏病产前超声筛查诊断模式.方法 收集2004年2月-2007年5月复旦大学附属妇产科医院产科在孕24周前行产前诊断的11 410例孕妇,应用超声筛查其11 544例胎儿的先天性心脏病发生情况.超声筛查切面包括四腔心切面、流出道切面(包括左室流出道+三血管切面),计算不同切面诊断先天性心脏病的敏感性及特异性,并随访胎儿预后.结果 (1)11 544例胎儿中,筛查出先天性心脏病48例,漏诊6例,先天性心脏病发生率为0.47%(54/11 544).(2)四腔心切面发现胎儿先天性心脏病33例,主要为室间隔缺损18例(其中9例合并锥干异常)、房室瓣膜异常6例及左、右心不对称9例.四腔心切面诊断先天性心脏病的敏感性为61.11%(33/54),特异性为99.98%(11 488/11 490).流出道切面诊断胎儿先天性心脏病15例,包括肺动脉闭锁1例,肺动脉瓣狭窄3例,大血管错位2例,肺动脉狭窄及大血管错位1例,法洛四联症6例,肺动脉狭窄2例.四腔心切面+流出道切面诊断胎儿先天性心脏病的敏感性为B8.89%(48/54),特异性99.98%(11 488/11 490).(3)48例先天性心脏病胎儿中,有11例合并其他器官系统异常,另有11例行羊膜腔穿刺检查胎儿染色体,其中5例为21三体.结论 四腔心切面+流出道切面对胎儿先天性心脏病的产前超声筛查有较高的检出率,此产前超声筛查诊断模式在临床上诊断胎儿先天性心脏病切实可行.     

Toll样受体与子宫内膜及子宫内膜异位症

子宫内膜异位症(EMs)发病机制尚未完全阐明.大量研究表明,免疫因素在EMs的发病机制中起重要作用.EMs免疫应答异常主要是巨噬细胞数量和活性增加及其分泌产物,如生长因子、细胞因子和血管生成因子的改变.Toll样受体(TLRs)识别特异性的病原体相关分子模式,启动和介导免疫应答,在固有免疫中发挥重要作用,并诱导产生适应性免疫反应.TLRs在正常子宫内膜中的生理作用以及在EMs中的相关研究已逐步开展,对其深人认识和研究将为EMs诊断、治疗和预后判断提供新思路和手段.     

Pharmacokinetics and endometrial and tubal tissue penetration of cefalotin and cefazolin

The pharmacokinetics and concentrations of the two antibiotics cefazolin and cefalotin were studied during gynecologic operations in endometrial and tubal tissue. The patients received 0.05 g/kg of the antibiotics by intravenous injection. Under the given conditions, pharmacokinetic calculation of the plasma elimination gave half-lives of 24.8 min for cefalotin and of 63 min for cefazolin. Fitting of the tissue levels to the Bateman function showed that the two antibiotics diffuse rapidly into both tubal and endometrial tissue and attain peak concentration levels between 10 and 25 min. In both tissues the concentrations of cefazolin were higher than those of cefalotin. Higher tissue concentrations of cefazolin could also be demonstrated in experiments of longer duration.     

Toll样受体与子宫内膜及子宫内膜异位症

子宫内膜异位症（EMs）发病机制尚未完全阐明。大量研究表明,免疫因素在EMs的发病机制中起重要作用。EMs免疫应答异常主要是巨噬细胞数量和活性增加及其分泌产物,如生长因子、细胞因子和血管生成因子的改变。Toll样受体（TLRs）识别特异性的病原体相关分子模式,启动和介导免疫应答,在固有免疫中发挥重要作用,并诱导产生适应性免疫反应。TLRs在正常子宫内膜中的生理作用以及在EMs中的相关研究已逐步开展,对其深入认识和研究将为EMs诊断、治疗和预后判断提供新思路和手段。     

Israeli and British women's wellbeing and eating behaviours in pregnancy and postpartum

Objectives: The study had two main objectives: (a) track changes in self-esteem, eating behaviours and body satisfaction from early pregnancy to 24 months postpartum and (b) to compare changes by context (Israel vs. UK) and maternal body mass index (BMI).

Background: High maternal BMI is associated with negative body image and restrained eating, which are experienced differently across cultures.

Methods: 156 pregnant women were recruited from Israel and the UK. Seventy-three women were followed up every six months from early postpartum and until 24 months following birth. Women completed questionnaires assessing self-esteem (RSEQ), body image (BIS/BIDQ) and eating behaviours (DEBQ) and self-reported weights and heights so that BMI could be calculated.

Results: Women with higher BMI had higher levels of self-esteem and were less satisfied with their body. Healthy-weight women were more likely to lose all of their retained pregnancy weight compared to overweight and obese women. Self-esteem, body image and eating behaviours remained stable from pregnancy until 24 months postpartum. No significant differences were found for any measure by context.

Conclusion: BMI was the strongest predictor of self-esteem and body dissatisfaction and a higher BMI predicted less weight loss postpartum.     

Psychological and pharmacological treatments of mood and anxiety disorders during pregnancy and postpartum. Review and synthesis

The aim of this article is to review the main methods of treatment of anxious and depressive disorders during pregnancy and the postpartum. To this end, we analyse recent publications about the use and efficacy of psychotherapy and psychosocial interventions (cognitive behavioural therapy, interpersonal psychotherapy, psychoanalytical therapy) in the perinatal period. We also review recent papers about the use of psychotropic medication during pregnancy and breast-feeding, with special emphasis on clinical trials. We particularly focus on the risk/benefit assessment of antidepressants, mood stabilisers, antipsychotics and benzodiazepines, in terms of teratogenicity, and impact on neonatal adaptation and neuropsychological development. Various treatment modalities are presented and discussed. It appears that psychotherapies have proved their efficiency on most pre- and postpartum anxious and depressive disorders and represent a first line treatment in most cases. Psychopharmacological treatment is indicated for severe anxious and depressive disorders. The risks of such medication, especially antidepressants, may have been overestimated in the past. Provided reasonable precautions are taken and mothers and future mothers receive clear information on the potential risks and benefits, psychotropic medication could be more broadly prescribed during pregnancy and the breast-feeding period.     

Placental ischemia and changes in umbilical and uteroplacental arterial and venous hemodynamics

Objective: To relate Doppler velocimetry findings in fetoplacental and uteroplacental circulation to placental histomorphology. Material and methods: In 14 uncomplicated and 31 high-risk pregnancies Doppler velocimetry was performed in umbilical artery and vein, and in maternal uterine veins and arteries during the second half of gestation. Histopathology of the placentas was examined, especially for signs of ischemia and inflammation. Results: All fetuses in uncomplicated pregnancies had normal flow velocity waveforms in umbilical artery; in the high-risk group, 18 fetuses had abnormal flow (increased PI or absent/reverse end-diastolic flow). The latter group had more often high ischemic score and infarctions in the placenta than found in pregnancies with normal umbilical artery flow (p?<?0.001 and p?=?0.02, respectively). Similarly, the abnormal uterine artery flow pattern (uterine artery score 3–4) occurred more often with high ischemic score and placenta infarctions (p?<?0.001 and p?<?0.001, respectively). No significant associations were found between the uterine venous flow type and placental ischemia. Conclusion: Placental ischemic morphological changes were associated with Doppler ultrasound signs of increased resistance to arterial blood flow, both on the fetal and maternal sides of the placenta. No significant relation to the uterine venous flow velocities was found.     

绒毛膜羊膜炎与胎儿及新生儿疾病

绒毛膜羊膜炎是产科炎症反应,但与新生儿预后关系密切。母体的宫内炎症反应可以直接导致胎儿和婴儿患病率和死亡率增加,胎儿炎症反应综合征（FIRS）也不可忽视。早期识别和快速诊断有助于减少母儿的近期合并症,改善新生儿的远期预后。产科和儿科共同关注,整合信息,是早期发现、实施有效干预的临床重点之一。