顺序检查法在彩超产前筛查中的应用

目的:探讨顺序检查法在彩超产前筛查中的应用价值。方法:对来香洲区人民医院进行产前筛查的孕周为16～40周的孕妇,按子宫-胎儿生物测量-胎儿结构-胎儿附属物的步骤进行彩超筛查,其中胎儿结构的检查顺序为颅脑、脊柱、骨及四肢、颜面、颈项、胸腔、腹腔、盆腔、心脏及大血管;胎儿附属物的检查顺序为胎盘、羊水、脐带。结果:6 728例胎儿中发生各种胎儿畸形85例(1.26%),超声筛查检出胎儿畸形79例,检出率为92.94%。结论:在彩超产前筛查中应用顺序检查法可提高胎儿畸形的检出率,是一种重要且可行的方法,值得推广应用。     

产前超声筛查胎儿先天性心脏病的诊断价值及高危因素分析

目的 探讨产前超声筛查胎儿先天性心脏病的临床价值并分析其高危因素。方法 应用回顾性分析2019年1月—2020年7月在本院接受产前胎儿先天性心脏病超声筛查的2 869例孕妇的临床资料,计算超声对胎儿先天性心脏病的诊断灵敏度、特异度及准确度。将发生胎儿先天性心脏病者作为先天性心脏病组,未发生者作为正常组。采用Logistic回归分析胎儿发生先天性心脏病的高危因素。结果 2 869例孕妇中126例发生胎儿先天性心脏病,检出率为4.39%,超声检查结果灵敏度为87.30%(110/126)、特异度为88.52%(2 428/2 743)、准确度为88.46%(2 538/2 869)。与正常组相比,先天性心脏病组胎儿早期颈项透明层(nuchal translucency,NT)值高或患有颈部淋巴水囊瘤(61.90%)、母亲患有结缔组织病或糖尿病(64.29%)、先天性心脏病家族史(77.78%)、羊水异常(62.70%)占比均高于正常组的35.29%、46.85%、60.30%、44.29%(χ2=36.850、14.688、15.480、16.479,P值均＜0.001)。经Logistic回归分析,胎儿早期NT值高或患有颈部淋巴水囊瘤、母亲患有结缔组织病或糖尿病、先天性心脏病家族史与羊水异常均为导致胎儿先天性心脏病的高危因素(P＜0.001)。结论 产前超声筛查对于胎儿先天性心脏病的诊断价值高,胎儿早期NT值高或患有颈部淋巴水囊瘤、母亲患有结缔组织病或糖尿病、先天性心脏病家族史与羊水异常均为导致胎儿先天性心脏病的高危因素。     

孕中期产前筛查的价值

目的:探讨产前筛查在孕中期产前诊断中的价值。方法:2006年1月～2009年9月对2 880例孕16～20周的妇女行产前筛查,检测其血清中甲胎蛋白(AFP)、游离β绒毛膜促性腺激素(F-βHCG)和游离雌三醇(μE3)浓度,结合年龄、体重等因素,评定危险系数。高危孕妇进行羊膜腔穿刺,羊水细胞染色体核型检查以确诊。结果:共有2 880例孕妇接受筛查。其中筛出唐氏综合征(DS)高风险5例,经羊水细胞染色体核型分析确诊2例;18-三体高风险2例,确诊1例:神经管缺陷(NTD)高风险2例,确诊2例。所有筛查孕妇均随访至胎儿出生,1例筛查阴性的孕妇分娩唐氏儿。结论:产前筛查可提高先天缺陷儿的检出率,是提高出生人口素质的有效技术措施。     

超声筛查在胎儿颅脑畸形的应用及研究

目的探讨分析超声筛查在胎儿颅脑畸形的应用价值,研究超声筛查的作用。方法选取该院2011年1月1日—2012年12月31日间进行超声筛查胎儿颅脑畸形的孕妇5430例,采用多切面序贯扫查法对胎儿颅脑进行筛查,对于超声诊断颅脑严重畸形的胎儿,进行中止妊娠。结果超声筛查检出19例胎儿颅脑畸形,经产后证实检出率为100%(6/6)。在进行超声筛查胎儿颅脑畸形的过程中,检出心脏畸形18例,唇腭裂12例,羊膜束带综合征1例,先天性膈疝3例,先天性肺囊腺瘤2例,四肢短小3例。结论超声筛查在胎儿颅脑畸形的应用价值巨大,对胎儿颅脑畸形的检出率高,同时可以检出胎儿自身患有的畸形,为临床提供有价值的信息。     

四腔心切面在产前超声诊断先天性心脏畸形中的作用

目的:分析四腔心切面所见异常在产前超声诊断先天性心脏畸形中的作用和临床意义。方法:据四腔心切面所见异常对产前超声诊断先天性心脏畸形所提供的心脏信息及对诊断意义的不同,将产前超声诊断的先天性心脏畸形胎儿病例71例分为3组。结果:第1组为根据四腔心切面所见异常即可明确诊断的胎儿先天性心脏畸形,共52例,占73.24%,但该组伴发的大动脉畸形25例,占48.08%,如果单用四腔心切面将全部漏诊;第2组为根据四腔心切面所见异常可以提供存在先天性心脏畸形重要线索,共12例,占16.90%;第3组为四腔心切面所见基本正常,但存在先天性心脏畸形,共7例,占9.86%。71例中合并心外畸形的病例39例,占54.93%。结论:四腔心切面在产前超声筛选新生儿先天性心脏畸形方面具有非常重要的作用和临床意义,90%以上的先天性心脏畸形在四腔心切面上或多或少有异常特征,但有局限性,大动脉畸形漏诊相当常见,如果能加上左、右心室流出道等切面则明显减少漏诊。     

围产儿的围产因素与胎盘病理改变的关系探讨

对１９９５年７月在我院分娩２４４例产妇胎盘病理检查结果显示，胎盘病理炎症改变与新生儿肺炎、羊水混浊间有着显著性差异（Ｐ＜０．０５）；而与胎膜早破、胎盘功能低下、宫内窘迫、ＳＧＡ、新生儿窒息等的发生无显著性差异（Ｐ＞０．０５）。提示当胎盘病理检查检出炎症，或发生羊水混浊者，都应高度警惕围产儿感染的发生，及早采取预防感染的措施，以提高围产儿质量。     

妊娠高血压综合征患者胎儿生长发育与白细胞介素-6的关系

目的:了解妊高征患者胎儿生长发育与白细胞介素-6(IL-6)水平的关系。方法:对2002年9月2004年9月50例妊娠高血压综合征患者(妊高征组)及30例正常孕妇(对照组)胎儿生长情况进行评价。采用酶联免疫吸附试验(ELISA法)检测两组母血清及羊水中IL-6的含量。结果:①中、重度妊高征患者低体重儿发生率显著高于正常妊娠组(P<0.01);②妊高征组母血清IL-6含量随病情加重呈升高趋势,中、重度妊高征组母血清IL-6含量显著高于正常妊娠组(P<0.01),羊水IL-6含量随妊高征病情加重呈下降趋势,中、重度妊高征组羊水IL-6含量显著低于正常妊娠组(P<0.01),母血清IL-6与羊水IL-6无显著相关关系(r=-0.21,r=-0.29,P>0.05);③妊高征组中24例新生儿出生体重低于2 500 g,其羊水IL-6含量显著低于新生儿出生体重达到2 500 g以上者,羊水IL-6水平与新生儿体重在妊高征组未发现明显相关性(r=0.232,P>0.05)。结论:妊高征患者的免疫活性细胞释放过多的IL-6,参与了妊高征的免疫损伤过程;妊高征患者胎盘产生并转运IL-6至羊水的能力下降,致羊水IL-6含量下降,对妊高征发病及其胎儿生长发育可能有重要影响。     

孕中期母血产前筛查36947例先天缺陷的研究

目的:探讨血清标志物甲胎蛋白(AFP)和游离绒毛膜促性腺激素(Free-βhCG)在胎儿先天缺陷筛查中的作用。方法:对孕15～20周妇女进行上述两项血清标志物检测,结合孕妇年龄、孕周、体重、既往妊娠史、有无糖尿病、吸烟等因素,通过产前筛查软件计算风险率;对高风险孕妇进行羊水细胞染色体检查及B超检查;每例受检孕妇追踪到新生儿出生。结果:36947例孕妇中,发现唐氏综合征13例,18-三体综合征6例,染色体其他核型异常3例。结论:孕中期血清AFP、Free-βhCG两项血清标志物联合检测作为筛查胎儿先天缺陷安全可行,能有效降低先天缺陷患儿出生率。     

Causes of fetal and neonatal mortality by race in a selected U.S. population.

In a large prospective study (1959--1966), the perinatal mortality rate for U.S. Whites was 34 deaths per 1000 total births, for Blacks 51/1000, for Puerto Ricans 41/1000, and for Orientals 23/1000. A number of disorders were responsible for these differences. Premature rupture of the fetal membranes occurred 92 per cent more often in Blacks than in Whites, marked placental growth retardation 56 per cent more often, amniotic fluid infections 45 per cent more often, and major congenital malformations 15 per cent more often. Most other disorders were less common in Blacks than in Whites. Stratifying the data by selected factors, such as prepregnancy body weight and antenatal medical care, eliminated or greatly reduced almost all of these interracial differences. The only major unexplained differences remaining were an excess of amniotic fluid infections and major congenital malformations in Blacks, and an excess of abruptio placentae and large placental infarcts in Whites.     

胎儿生长受限孕妇血浆、胎盘、羊水中妊娠特异性β_1糖蛋白(SP_1)与胎盘功能的研究

目的探讨胎儿生长受限孕妇血浆、胎盘、羊水中SP1与胎盘功能的相关性。方法对胎儿生长受限组与正常对照组孕妇血浆、分娩后胎盘以及羊水采取固相夹心法酶联免疫吸附实验(ELISA)检测其SP1含量。结果胎儿生长受限组与正常妊娠组比较SP1含量明显降低(P<0.05)。结论动态观察血清SP1含量变化可作为胎儿生长受限孕妇监测胎盘功能以及胎儿宫内安危的重要指标之一。     

Factors that determine the effectiveness of screening for congenital heart malformations at child health centres

BACKGROUND: The actual yield from current screening for clinically significant congenital heart malformations in Dutch child health care is far from optimal. In this study factors that determine the effectiveness of this screening are identified and recommendations for the optimization of the screening programme are formulated. METHODS: Eighty-two patients with a clinically significant congenital heart malformation were consecutively included in this study. Parents and child health centre physicians were interviewed in order to establish the screening, detection and referral history. Paediatric cardiologists established whether these patients were diagnosed 'in time' or 'too late'. RESULTS: Incomplete performance of the screening examination has more influence on the occurrence of delayed diagnoses than failure by parents to adhere to the complete visit schedule. Adequate screening advances detection of congenital heart malformations. Severity, however, is the most predominant determinant of the age at referral and diagnosis, as well as of the risk of complications. In only 7 out of 39 patients diagnosed 'too late', could no avoidable cause for an adverse outcome be found. In 10 cases (25%) there was a prolonged interval between first referral and diagnosis. CONCLUSION: To optimize the yield of the screening programme, improvement in the performance of the child health centre physicians and the co-operation of other physicians involved in reducing the interval between referral and diagnosis are required. Thus a considerable improvement in the prevention of complications of congenital heart malformations can be obtained.     

羊水粪染对新生儿的影响

羊水粪染主要见于足月产及过期妊娠,胎便排入羊水是胎儿成熟的表征或胎儿宫内窘迫的征象已得到公认。胎盘清理胎便能力降低是近年来提出的新的观点,作为羊水粪染主要的发病机制之一备受关注。胎儿羊水粪染可损伤多个系统,可通过直接观察、超声等及时诊断羊水粪染,及时对胎儿及新生儿进行干预,尽可能的降低对围产儿的不利影响,提高其生命质量。     

Alpha fetoprotein concentration in the amniotic fluid in normal pregnancy and in pregnancy complicated by fetal anomaly]

The authors determined alpha-fetoprotein (AFP) concentration of amniotic fluid samples taken from 351 pregnancies in the 15-23. gestational weeks with the outcome of healthy infants with the use of radioimmunoassay. These values were compared to those of 255 pathological pregnancies, and the sensitivity and specificity of this diagnostic method based on amniotic fluid AFP assay were determined. It has been concluded that if the borderline value between normal and pathological cases is three times greater than median, the specificity of the method is 100%, its sensitivity is 98.5% in anencephaly (exencephaly), 75.0% in ADAM sequence, 70.4% in spina bifida and 55.5 in omphalocele (gastroschisis). Thus amniocentesis is advisable in cases where the risk of the above malformations is above the average and also when the possibility of the malformation cannot be excluded by non-invasive methods.     

胎盘外泌体与妊娠及其并发症的研究进展

细胞产生的细胞外纳米泡称为外泌体（exosome），在组织微环境间传递信息。外泌体是纳米大小的、直径为30～100 nm的微型囊泡，由细胞以可控的方式释放介导多种细胞外和细胞间活动。外泌体的主要功能包括细胞间通讯、免疫调节、细胞外基质周转、干细胞分裂或分化、新生血管形成和细胞废物清除，从而促进机体正常的生理和病理过程。外泌体可以携带多种生物活性因子（蛋白质、RNA和脂质等），广泛存在于外周血、乳汁、尿液、唾液、腹水和羊水等体液中。母体血浆中胎盘来源外泌体的浓度在妊娠期间逐渐增加，在正常胎盘发育和母体免疫耐受中发挥作用；外泌体的生物学变化与妊娠并发症有关，如子痫前期、胎儿生长受限，有助于研发妊娠并发症风险妇女的早期诊断技术、监测治疗反应或可能研发外泌体靶向治疗。综述外泌体与妊娠及其并发症之间的关系进展。     

Revisión de nuevas evidencias acerca de la posible transmisión vertical de la COVID-19

ObjectiveTo conduct a systematic review of original peer-reviewed studies, containing data on the identification of SARS-CoV-2 in clinical samples of amniotic fluid, placenta or membranes, umbilical cord blood, and human milk, from women with a clinically or confirmed diagnosis of COVID-19. These studies should have been published after the guide for the management of patients with COVID-19 from World Health Organization guide (available in March 13, 2020).ResultsSeventeen studies were included, in which 143 clinical samples were identified (38 of amniotic fluid; 34 of placentas or membranes; 39 from umbilical cord blood and 32 from human milk). Among the 143 samples, nine were positive for SARS-CoV-2 RNA (one amniotic fluid sample obtained before rupturing the membranes; six samples of placenta or membranes, although authors indicate the possibility of contamination by maternal blood in three of these, and two samples of human milk).ConclusionsFollowing our search criteria, we found no studies that demonstrate the detection of SARS-CoV-2, in conjunction with viral isolation and the evaluation of the infective capacity of viral particles, in clinical samples of amniotic fluid, placenta or membranes, umbilical cord blood and human milk, from women with a confirmed or clinical diagnosis of COVID-19. However, vertical transmission cannot be ruled out, larger studies are required that ideally locate in situ RNA and protein of SARS-CoV-2, as well as isolation that demonstrate the infective capacity of the viral particles.     

细胞凋亡与妊娠期肝内胆汁淤积症妊娠结局的关系

目的:研究妊娠期肝内胆汁淤积症(ICP)患者胎盘细胞凋亡与羊水污染、新生儿窒息、早产、剖宫产的关系,探讨ICP患者妊娠结局不良的原因。方法:采用免疫组织化学方法检测ICP组和正常组凋亡相关基因Caspase-3的表达水平,再根据Caspase-3表达强弱将ICP组孕妇分为3组,了解羊水污染和新生儿窒息的发生率,探讨ICP患者胎儿预后不良是否与胎盘细胞凋亡有关。结果:ICP组胎盘细胞促细胞凋亡相关基因Caspase-3表达增加,且随着促凋亡基因表达的增加临床上表现为羊水污染及剖宫产几率升高。结论:ICP患者胎盘细胞促凋亡基因表达增加,胎盘细胞过度凋亡,与血清胆酸水平有相关性,使胎盘功能减退,导致羊水污染的几率增加。     

新生儿窒息相关产科因素分析与对策

目的:分析影响新生儿窒息的相关产科因素及对策。方法:以贵州黔西南州人民医院2004年1月～2009年6月住院分娩的9300例新生儿为研究对象,采用回顾性队列研究方法进行调查研究。结果:胎盘早剥、胎位异常、前置胎盘、产程异常、羊水过多及脐带异常等产科因素可显著增加新生儿窒息的发病率(P<0.05);剖宫产、羊水少、漏斗骨盆和头盆不称可显著降低新生儿窒息的危险性(P<0.05)。结论:产科因素可在产前明确诊断,应及时处理,采取恰当对策,以避免新生儿窒息的发生。     

产前系统超声检查对先天畸形的筛查效果评价

目的：了解产前系统超声检查对先天畸形的筛查效果。方法2010年1月-2012年12月在产科门诊接受胎儿产前B超筛查,并在该院住院分娩或终止妊娠的2056例孕妇的筛查结果,通过尸检、临床特征及染色体检查等确诊结果资料为基础,计算产前系统超声筛查先天畸形的灵敏度、特异度、阳性预测值和阴性预测值等。结果2056例孕妇参加了产前筛查,共分娩或引产胎儿2056例,产前正确筛查出75例,确诊为先天畸形患儿86例。产前系统超声筛查对先天畸形诊断的灵敏度、特异度分别为87.2％,99.8％,阳性预测值、阴性预测值分别为93.8％,99.4％,与产后临床诊断的符合率为99.2％;对严重结构畸形的诊断灵敏度、特异度分别为94.1％,99.9％,阳性预测值、阴性预测值分别为98.0％,99.9％,与产后临床诊断的符合率为99.9％。结论产前系统超声检查对先天畸形和严重结构畸形的筛查具有较高的临床价值,为临床处理提供早期的有利依据,减少严重畸形新生儿的出生率。     

Chromosomal mosaicism in the placenta

Chromosomal mosaicism is when two (or more) cell lines with different chromosomal complements are found within one individual. Mosaicism can be found in all tissues but may also be confined to a specific tissue. During pregnancy the aberrant cell line, often with a trisomy, may be confined to the placenta. In prenatal diagnosis, more specifically in chorionic villus sampling, this can interfere with the results and may necessitate follow-up investigation with amniotic fluid cell culture. Confined placental mosaicism can have no visible effect whatsoever on foetal development, but can also lead to serious foetal problems, depending on the chromosome involved. Uniparental disomy in the diploid cell line of the mosaicism may also have a negative effect on the foetal phenotype. In the case of the reverse situation, where the normal diploid cell line is confined to the placenta and the foetus has trisomy 13 or 18, it has been suggested that the diploid cell line might play a role in intrauterine survival; a recent study by the present authors could not confirm this view.     

Public health control of hyperhomocysteinemia and its consequences

The etiological role of hyperhomocysteinemia in the origin of neural-tube defects was proved, therefore a mandatory flour folic acid fortification program was introduced in the USA since January 1, 1998. In Hungary one kind of breads was fortified with folic acid, vitamin B12 and vitamin B6. The Hungarian randomised controlled trials of periconceptional folic acid containing micronutrient-combination supplementation also indicated a reduction in the occurrence of congenital cardiovascular malformations, urinary tract's defects and congenital limb deficiencies and these findings were confirmed by US teams. Recent studies showed a positive association between cardiovascular diseases and hyperhomocysteinemia as well, thus it is considered as an independent etiological factor in the pathogenesis of ischemic heart diseases, stroke, deep vein thrombosis, in addition of vascular diseases in the placenta during pregnancy. Other studies showed that hyperhomocysteinemia is more prevalent in demented patients and in persons with impaired cognitive performance. Some association was also found between hyperhomocysteinemia and cancers (e.g. colon). There is strong evidence that four vitamins B, such as vitamin B11 (folate-folic acid), vitamin B12, B2 and B6 can reduce the level of serum homocysteine and subsequently neural-tube defects. In addition the results of intervention studies indicated a protective effect of folic acid and other vitamins B for some other congenital abnormalities, cardiovascular diseases, senile dementia and cancers. The flour fortification with these water-soluble vitamins B is appropriate for an effective public health program for the primary prevention of these hyperhomocysteinemia-related disorders. There is no real risk for side effects on the basis of available US, Canadian and Hungarian experiences. In conclusion an urgent task is to introduce a mandatory flour fortification program in Hungary.